Raras
Buscar doenças, sintomas, genes...
Esclerose lateral primária
ORPHA:35689CID-10 · G12.2CID-11 · 8B60.4DOENÇA RARA

A Esclerose Lateral Primária (ELP) é uma doença neurológica que afeta os neurônios motores (as células nervosas responsáveis pelos movimentos do corpo). Ela não tem causa conhecida e não é hereditária. A doença é marcada por um problema lento e progressivo nos neurônios motores superiores, causando rigidez excessiva nos músculos (espasticidade), fraqueza leve ao fazer movimentos voluntários, reflexos exagerados (hiperreflexia) e dificuldade para falar.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A Esclerose Lateral Primária (ELP) é uma doença neurológica que afeta os neurônios motores (as células nervosas responsáveis pelos movimentos do corpo). Ela não tem causa conhecida e não é hereditária. A doença é marcada por um problema lento e progressivo nos neurônios motores superiores, causando rigidez excessiva nos músculos (espasticidade), fraqueza leve ao fazer movimentos voluntários, reflexos exagerados (hiperreflexia) e dificuldade para falar.

Pesquisas ativas
38 ensaios
980 total registrados no ClinicalTrials.gov
Publicações científicas
599 artigos
Último publicado: 2026 Apr 13

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 100 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
1.5
Europe
Início
Adult
+ elderly
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: G12.2
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (2)
0202010694
Sequenciamento completo do exoma (WES)genetic_test
0301070040
Atendimento em reabilitação — doenças rarasrehabilitation
Você se identifica com essa condição?
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧠
Neurológico
18 sintomas
💪
Músculos
4 sintomas
🫘
Rins
2 sintomas
🫃
Digestivo
1 sintomas
😀
Face
1 sintomas

+ 19 sintomas em outras categorias

Características mais comuns

90%prev.
Sinal de Babinski
Muito frequente (99-80%)
90%prev.
Espasticidade
Muito frequente (99-80%)
90%prev.
Hiperreflexia generalizada
Muito frequente (99-80%)
90%prev.
Morfologia anormal do neurônio motor superior
Muito frequente (99-80%)
90%prev.
Disfunção do neurônio motor superior
Muito frequente (99-80%)
55%prev.
Paraparesia espástica progressiva
Frequente (79-30%)
45sintomas
Muito frequente (5)
Frequente (13)
Ocasional (5)
Muito raro (3)
Sem dados (19)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 45 características clínicas mais associadas, ordenadas por frequência.

Sinal de BabinskiBabinski sign
Muito frequente (99-80%)90%
EspasticidadeSpasticity
Muito frequente (99-80%)90%
Hiperreflexia generalizadaGeneralized hyperreflexia
Muito frequente (99-80%)90%
Morfologia anormal do neurônio motor superiorAbnormal upper motor neuron morphology
Muito frequente (99-80%)90%
Disfunção do neurônio motor superiorUpper motor neuron dysfunction
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico599PubMed
Últimos 10 anos200publicações
Pico202546 papers
Linha do tempo
2026Hoje · 2026🧪 1982Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

3 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive, Not applicable.

SPG7Mitochondrial inner membrane m-AAA protease component parapleginDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalytic component of the m-AAA protease, a protease that plays a key role in proteostasis of inner mitochondrial membrane proteins, and which is essential for axonal and neuron development (PubMed:11549317, PubMed:28396416, PubMed:31097542, PubMed:9635427). SPG7 possesses both ATPase and protease activities: the ATPase activity is required to unfold substrates, threading them into the internal proteolytic cavity for hydrolysis into small peptide fragments (By similarity). The m-AAA protease ex

LOCALIZAÇÃO

Mitochondrion inner membrane

VIAS BIOLÓGICAS (2)
Processing of SMDT1Mitochondrial protein degradation
MECANISMO DE DOENÇA

Spastic paraplegia 7, autosomal recessive

A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG7 is a complex form. Additional clinical features are cerebellar syndrome, supranuclear palsy, and cognitive impairment, particularly disturbance of attention and executive functions.

EXPRESSÃO TECIDUAL(Ubíquo)
Tireoide
63.6 TPM
Cerebelo
50.5 TPM
Cérebro - Hemisfério cerebelar
47.8 TPM
Ovário
47.7 TPM
Cervix Endocervix
43.6 TPM
OUTRAS DOENÇAS (2)
hereditary spastic paraplegia 7lateral sclerosis
HGNC:11237UniProt:Q9UQ90
ALS2AlsinDisease-causing germline mutation(s) inTolerante
FUNÇÃO

May act as a GTPase regulator. Controls survival and growth of spinal motoneurons (By similarity)

LOCALIZAÇÃO

VIAS BIOLÓGICAS (2)
RAC1 GTPase cycleRAB GEFs exchange GTP for GDP on RABs
MECANISMO DE DOENÇA

Amyotrophic lateral sclerosis 2

A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.

OUTRAS DOENÇAS (4)
infantile-onset ascending hereditary spastic paralysisjuvenile primary lateral sclerosisamyotrophic lateral sclerosis type 2, juvenilejuvenile amyotrophic lateral sclerosis
HGNC:443UniProt:Q96Q42
ERLIN2Erlin-2Candidate gene tested inTolerante
FUNÇÃO

Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs) such as ITPR1 (PubMed:17502376, PubMed:19240031). Promotes sterol-accelerated ERAD of HMGCR probably implicating an AMFR/gp78-containing ubiquitin ligase complex (PubMed:21343306). Involved in regulation of cellular cholesterol homeostasis by regulation the SREBP signaling pathway. May promote ER retention of the SCAP-SREBF complex (PubMe

LOCALIZAÇÃO

Endoplasmic reticulum membrane

VIAS BIOLÓGICAS (3)
AMPK-induced ERAD and lysosome mediated degradation of PD-L1(CD274)ABC-family proteins mediated transportDefective CFTR causes cystic fibrosis
MECANISMO DE DOENÇA

Spastic paraplegia 18B, autosomal recessive

A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG18B is a severe form with onset in early childhood. Most affected individuals have severe psychomotor retardation. Some may develop significant joint contractures.

EXPRESSÃO TECIDUAL(Ubíquo)
Fibroblastos
29.8 TPM
Tireoide
22.2 TPM
Ovário
21.0 TPM
Útero
18.9 TPM
Nervo tibial
18.8 TPM
OUTRAS DOENÇAS (4)
spastic paraplegia 18a, autosomal dominantjuvenile primary lateral sclerosishereditary spastic paraplegia 18recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
HGNC:1356UniProt:O94905

Variantes genéticas (ClinVar)

733 variantes patogênicas registradas no ClinVar.

🧬 ERLIN2: NM_007175.8(ERLIN2):c.684del (p.Tyr229fs) ()
🧬 ERLIN2: NM_007175.8(ERLIN2):c.988del (p.Glu330fs) ()
🧬 ERLIN2: NM_007175.8(ERLIN2):c.207T>A (p.Asp69Glu) ()
🧬 ERLIN2: GRCh37/hg19 8p11.23-11.1(chr8:36650289-43776564)x3 ()
🧬 ERLIN2: NM_007175.8(ERLIN2):c.969_973del (p.Ser324fs) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 32 variantes classificadas pelo ClinVar.

14
5
13
Patogênica (43.8%)
VUS (15.6%)
Benigna (40.6%)
VARIANTES MAIS SIGNIFICATIVAS
ALS2: NM_020919.4(ALS2):c.4064del (p.Gln1355fs) [Likely pathogenic]
ALS2: NM_020919.4(ALS2):c.1321_1327del (p.Ile441fs) [Likely pathogenic]
ALS2: NM_020919.4(ALS2):c.3583G>T (p.Gly1195Ter) [Pathogenic]
ALS2: NM_020919.4(ALS2):c.601C>T (p.Arg201Ter) [Pathogenic/Likely pathogenic]
ALS2: NM_020919.4(ALS2):c.2104G>T (p.Glu702Ter) [Likely pathogenic]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
3Fase 31
2Fase 25
·Pré-clínico14
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 20 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Esclerose lateral primária

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

20 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

NCT07467187 · Invasive Home Ventilation in DenmarkRecrutando
NCT03225144 · Investigating Complex Neurodegenerative Disorders Related to…Recrutando
NCT07161999 · Study of COYA 302 for the Treatment of ALSRecrutando
PHASE2
NCT05747937 · Longitudinal Assessment of Autonomic and Sensory Nervous Sys…Recrutando
NA
NCT04297683 · HEALEY ALS Platform Trial - Master ProtocolRecrutando
PHASE2, PHASE3
NCT07357428 · Connect-One: Early Feasibility Study of Connexus® Brain-Comp…Recrutando
NA
NCT07017946 · Intestinal Microbiome Transplant in ALSRecrutando
PHASE1, PHASE2
NCT05204017 · Comprehensive Analysis Platform To Understand, Remedy and El…Recrutando
NCT06450691 · Modeling Amyotrophic Lateral Sclerosis With FibroblastsRecrutando
NA
NCT07287397 · Study is to Assess the Safety and Tolerability of VTx-002 in…Recrutando
PHASE1, PHASE2
NCT07521930 · Interfacing With NeuroTechnology to Expand Neural Throughput…Recrutando
NA
NCT07259980 · A Study to Learn More About the Long-Term Safety of Tofersen…Recrutando
NCT06819124 · Examining Interactions Between PALS and CaregiversRecrutando
NA
NCT03174938 · The Swedish BioFINDER 2 StudyRecrutando
NA
NCT07509125 · Ultra-High Resolution PET in Aging, Neurodegeneration and Ps…Recrutando
NA
NCT07142291 · PHENOGENE-1A (Cromolyn) Treatment in Patients With Mild to M…Recrutando
PHASE2
NCT07502677 · Diagnostic Accuracy of SleepImage Technology for Detecting R…Recrutando
NCT05407324 · Dazucorilant in Patients With Amyotrophic Lateral SclerosisRecrutando
PHASE2
NCT06856850 · Disease Biosignatures in ALS/FTD Spectrum: New Impactful Bio…Recrutando
NCT07491484 · Impact of Physical Functioning on Patient-Reported Outcomes …Recrutando

Outros ensaios clínicos

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Publicações mais relevantes

Timeline de publicações
340 papers (10 anos)
#1

The Amyotrophic Lateral Sclerosis House Call Program: A Single-Center Experience in the United States.

Neurology research international2026

Accessing multidisciplinary care poses challenges for people living with amyotrophic lateral sclerosis (ALS) due to mobility issues. As ALS care rarely requires hospital-based technology, most care is available through home visits. The Daniella Lipper ALS House Call Program (HCP) at Massachusetts General Hospital (MGH), launched in 2017 in collaboration with Compassionate Care ALS, has pioneered home-based ALS care in Eastern Massachusetts. A retrospective chart review of ALS and primary lateral sclerosis (PLS) patients enrolled in the HCP at MGH was conducted. Data on demographics, visit details, and procedures performed during home visits were collected from electronic health records for patients seen from January 2024 to December 2024. In 2024, the ALS HCP conducted 959 visits for 142 patients (average age: 68 years, range: 36-93; 47.9% female). Of these patients, 137 (96.5%) were diagnosed with ALS and 5 (3.5%) with PLS. Notably, 61 patients (43%) received care exclusively at home. Key interventions included 44 gastrostomy tube exchanges and 59 respiratory assessments, both of which significantly reduced hospital visits. The average distance traveled by the care team was 30.32 miles per visit. The Daniella Lipper ALS HCP at MGH brings ALS expertise into the patient's home, minimizing travel burdens and ensuring continuity of care. The program illustrates the feasibility and impact of home-based ALS care, suggesting potential for broader implementation across the nation. Development will focus on expanding services, such as tracheostomy changes in the homes, and on creating sustainable models for similar initiatives.

#2

TBK1-Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia.

Annals of clinical and translational neurology2026 Feb 05

We report a 58-year-old woman with a novel splice-site variant in the TANK-binding kinase 1 (TBK1:c.993-2A>C p.Ala332TyrfsTer39) who sequentially developed primary lateral sclerosis (PLS) followed by right temporal variant frontotemporal dementia (rtvFTD). Neuroimaging demonstrated right anterior temporal atrophy before cognitive symptoms, and prosopagnosia represented the earliest manifestation of rtvFTD. Molecular analysis revealed reduced levels of correctly spliced TBK1 transcripts, consistent with haploinsufficiency. Given the shared involvement of TDP-43 pathology in both PLS and rtvFTD, this case indicates TBK1 dysfunction as a fundamental genetic factor underlying the coexistence of these phenotypes, underscoring the clinical value of early neuroimaging and genetic evaluation.

#3

Demographic, clinical and genetic characteristics of patients with amyotrophic lateral sclerosis from two specialised centres in Austria.

Journal of neurology2026 Jan 10

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterised by progressive muscle weakness and ultimately death from respiratory failure. Heterogeneity in disease trajectories and outcomes among patients with ALS (pwALS) is influenced by healthcare access, rehabilitation, and palliative care, but real-world data on demographic and clinical characteristics remain scarce in many countries, including Austria. To characterise the demographic, clinical, and genetic landscape of pwALS in Austria. In this retrospective cohort study, we included pwALS diagnosed according to the Gold Coast criteria and treated at two large tertiary referral centres. Demographic, clinical, and genetic data were extracted from the local ALS registries, and survival was determined via linkage with Statistik Austria, censored in December 2023. A total of 341 patients with motor neuron disease were included (44.9% female), of whom 5% were diagnosed with primary lateral sclerosis and 2.9% with progressive muscular atrophy. Among pwALS (n = 314), spinal onset was most common (67.2%), followed by bulbar onset (29.6%) and respiratory onset (2.5%). Median survival from symptom onset was 36.0 months (IQR 20.0-74.0), with age at onset (HR 1.04, 95% CI 1.02-1.05; p < 0.0001), diagnostic delay (HR 0.97, 95% CI 0.96-0.98; p < 0.0001), and PEG tube placement (HR 0.72, 95% CI 0.50-1.00; p = 0.0478) as the only independent predictors of survival. (Likely) pathogenic variants were identified in 5.5% of patients, including two in SOD1 and one each in C9orf72, OPTN, TARDBP, and FUS. This study provides the first comprehensive description of the demographic, clinical, and genetic characteristics of pwALS in Austria, offering valuable real-world insight into disease presentation and genetic diversity.

#4

The Epidemiology of Primary Lateral Sclerosis: Results from a Population-Based Cohort.

Annals of neurology2026 Mar

In this population-based study, we described the epidemiology of primary lateral sclerosis (PLS) in northern Italy and compared the clinical characteristics of patients with PLS to those with predominant upper motor neuron (PUMN) involvement and classic amyotrophic lateral sclerosis (ALS). Patients from the PARALS registry diagnosed with probable or definite PLS between 2007 and 2021 were included. Crude annual incidence rates were calculated, along with age- and sex-specific rates. A survival analysis was performed to identify prognostic factors at diagnosis. Covariates included sex, age at onset, site of onset, diagnostic delay, forced vital capacity (FVC), change in ALS Functional Rating Scale (ΔFRS), and change in body mass index (ΔBMI). A total of 57 PLS patients (2.7%) were included, with a crude incidence rate of 0.084 per 100,000 person-years. Compared to PUMN and classic ALS, PLS patients were younger (median onset age 63.5 years, interquartile range [IQR] 54.9-70.4) and predominantly female (male-to-female ratio 0.58). Bulbar onset occurred in 11 cases (19.3%), all of whom later developed spinal symptoms. At censoring, 38 patients (66.7%) were still alive (median survival 8.3 years, IQR 5.7-12.3), corresponding to a point prevalence of 0.89 per 100,000. Survival was significantly associated with age at onset (hazard ratio [HR] 1.17, 95% confidence interval [CI]: 1.05-1.33, p = 0.001), male sex (HR 4.41, 95% CI: 1.24-15.6, p = 0.02), and FVC at diagnosis (HR 0.95, 95% CI: 0.93-0.98, p = 0.006). PLS was confirmed to be rarer than other ALS phenotypes. Patients had a higher age at onset than previously reported and a female predominance. Sex, age at onset, and respiratory function were key prognostic factors. ANN NEUROL 2026;99:606-613.

#5

Primary Lateral Sclerosis Natural History Study: Primary Lateral Sclerosis Functional Rating Scale and Other Outcomes Assessment.

Annals of neurology2026 Feb

The primary lateral sclerosis (PLS) consensus diagnostic criteria and functional rating scale (PLSFRS) were recently established to facilitate and optimize future PLS clinical trials. We examined the trajectory of the PLSFRS and other functional outcome measures and biomarkers in the PLS Natural History Study (PLS NHS) to understand their performance in this prospective cohort. The PLS NHS is a prospective, longitudinal, multicenter study of people living with PLS in different diagnostic categories: early (disease duration <2 years); probable (2-4 years); and definite PLS (4-15 years). PLSFRS scores and other functional outcome measures were collected at baseline, 3-, 6-, 9-, and 12-month follow-up visits. Baseline characteristics were compared between the groups. The slopes of the PLSFRS and other functional outcome measures over 12 months were examined in the overall cohort and subgroups using linear mixed-effect models. The associations between baseline characteristics and the rate of PLSFRS decline were analyzed with linear regression models. A total of 76 participants were included: early (n = 6); probable (n = 26); and definite (n = 44) PLS. Baseline PLSFRS total scores were highest in the early PLS group, followed by the probable and definite PLS groups. In the overall cohort, the PLSFRS total score declined by 0.33 points/month (95% confidence interval [0.27-0.39], adjusted p < 0.05). The rate of decline was steepest in the early PLS group, followed by the probable and definite PLS groups. Baseline neurofilament light chain level was associated with the rate of PLSFRS decline over 1 year (p = 0.001). In PLS, the rate of functional decline, as measured by the PLSFRS total score, is faster during the early phase of the disease. Neurofilament light might serve as a prognostic biomarker in PLS. ANN NEUROL 2026;99:418-428.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC269 artigos no totalmostrando 193

2026

Expanding the Motor Band Sign in Motor Neuron Disease Using 7T MRI: Visualization of Cortical Layer-Dependent Iron Deposition in the Primary Motor Cortex.

Muscle &amp; nerve
2026

Prospective Validation of the New PLS Diagnostic Criteria From PLS Natural History Study: EMG and Neurofilament Analyses.

Muscle &amp; nerve
2026

The Amyotrophic Lateral Sclerosis House Call Program: A Single-Center Experience in the United States.

Neurology research international
2026

Trajectory of Mobility Function Decline for People With Motor Neuron Disease.

Archives of physical medicine and rehabilitation
2026

TBK1-Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia.

Annals of clinical and translational neurology
2026

Involvement of Keap1/Nrf2 and the antioxidant defence in cytoprotective effects induced by cannabis polyphenols in SH-SY5Y neuronal cells.

Biomedicine &amp; pharmacotherapy = Biomedecine &amp; pharmacotherapie
2026

Riluzole use and reasons for non-use in people with amyotrophic lateral sclerosis in Aotearoa New Zealand.

The New Zealand medical journal
2025

Establishing Diagnostic and Differential Diagnostic Criteria for Amyotrophic Lateral Sclerosis.

Journal of clinical medicine
2026

Demographic, clinical and genetic characteristics of patients with amyotrophic lateral sclerosis from two specialised centres in Austria.

Journal of neurology
2026

Co-aggregation of annexin A11 and TDP-43 in FTLD/MND with primary lateral sclerosis phenotype.

Acta neuropathologica communications
2025

Variably Protease-Sensitive Prionopathy: Two New Cases With Motor Neuron-Dementia Syndrome.

Annals of clinical and translational neurology
2026

Motor band sign in 18F-FDG PET/CT studies: a biomarker of degenerative upper motor neuron disease? A study of three cases and literature review.

Neurologia
2025

Case Series Assessing the Use of Levetiracetam for Gait Improvement in Primary Lateral Sclerosis.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
2026

Startle Reflex in Primary Lateral Sclerosis (PLS): A Comparison With Amyotrophic Lateral Sclerosis (ALS).

Muscle &amp; nerve
2026

The Epidemiology of Primary Lateral Sclerosis: Results from a Population-Based Cohort.

Annals of neurology
2025

The genetic architecture of primary lateral sclerosis in a cohort of Italian patients.

Journal of neurology
2025

Expanding the spectrum of annexin A11 proteinopathy in frontotemporal lobar degeneration and motor neuron disease.

Acta neuropathologica
2025

Spanish adaptation of the Primary Lateral Sclerosis Functional Rating Scale (PLSFRS).

Amyotrophic lateral sclerosis &amp; frontotemporal degeneration
2025

Motor Cortex Coverage Predicts Signal Strength of a Stentrode Endovascular Brain-Computer Interface.

medRxiv : the preprint server for health sciences
2025

Development of a Human iPSC-Derived "Corticospinal Tract-on-a-Chip" for Neurodegenerative Disease Research.

bioRxiv : the preprint server for biology
2026

Primary Lateral Sclerosis Natural History Study: Primary Lateral Sclerosis Functional Rating Scale and Other Outcomes Assessment.

Annals of neurology
2025

Atypical features including acquired oculomotor apraxia in C9orf72-associated familial primary lateral sclerosis.

Journal of neuromuscular diseases
2026

Serum NfL, but not GFAP, differentiates primary lateral sclerosis from adrenomyeloneuropathy and hereditary spastic paraplegia type 4.

Amyotrophic lateral sclerosis &amp; frontotemporal degeneration
2025

Generation and characterization of two pluripotent stem cell lines from Primary Lateral Sclerosis (PLS) patients.

Stem cell research
2025

Amyotrophic Lateral Sclerosis Masquerading as Multiple System Atrophy with Parkinsonism and Anxiety as Initial Manifestations.

Degenerative neurological and neuromuscular disease
2025

Whole genome sequencing analysis in primary lateral sclerosis (PLS) patients reveals mutations in neurological diseases-causing genes.

Journal of neurology
2025

A Japanese familial spastic paraplegia associated with a missense UBQLN2 variant.

Journal of human genetics
2025

Unilateral Motor Band Sign in Hemiplegic Primary Lateral Sclerosis.

Neurology India
2025

Neuroaxonal Degeneration as a Converging Mechanism in Motor Neuron Diseases (MNDs): Molecular Insights into RNA Dysregulation and Emerging Therapeutic Targets.

International journal of molecular sciences
2025

Toward therapeutic trials in primary lateral sclerosis.

Amyotrophic lateral sclerosis &amp; frontotemporal degeneration
2025

Cortical Excitability as a Prognostic and Phenotypic Stratification Biomarker in Amyotrophic Lateral Sclerosis.

Annals of neurology
2025

What Is in the Literature.

Journal of clinical neuromuscular disease
2025

Burden of pathogenetic and likely pathogenetic variants in SPG7, SPG11 and AP4 genes in Amyotrophic Lateral Sclerosis. A case-control study.

Journal of neurology
2025

Differentiating upper- and lower motor neuron diseases using automated acoustic analysis.

Amyotrophic lateral sclerosis &amp; frontotemporal degeneration
2025

Inconsistent primary motor cortex glucose hypometabolism in primary lateral sclerosis.

Journal of neurology
2025

Primary Lateral Sclerosis: Implications for Diagnostic Criteria From a Natural History Study in the Netherlands.

Neurology
2025

Primary Lateral Sclerosis (Progressive Spinobulbar Spasticity): Serial Analysis Over Many Years Increases Diagnostic Certainty.

Neurology
2025

Progression and life expectancy in primary lateral sclerosis.

Journal of neurology, neurosurgery, and psychiatry
2026

Latest progress and challenges in drug development for degenerative motor neuron diseases.

Neural regeneration research
2025

New developments in imaging in ALS.

Journal of neurology
2025

[Genetics of Motor Neuron Diseases and Hereditary Spastic Paraplegia].

Brain and nerve = Shinkei kenkyu no shinpo
2025

Advances and research priorities in the respiratory management of ALS: Historical perspectives and new technologies.

Revue neurologique
2025

Pathological laugher and crying in motor neuron diseases: a matter of bulbar and neurobehavioral involvement with sex imbalance.

Journal of neurology
2025

Motor phenotypes of amyotrophic lateral sclerosis - a three-determinant anatomical classification based on the region of onset, propagation of motor symptoms, and the degree of upper and lower motor neuron dysfunction.

Neurological research and practice
2025

TDP-43 seeding activity in the olfactory mucosa of patients with amyotrophic lateral sclerosis.

Molecular neurodegeneration
2025

Sensory Dysfunction in ALS and Other Motor Neuron Diseases: Clinical Relevance, Histopathology, Neurophysiology, and Insights from Neuroimaging.

Biomedicines
2025

Pseudobulbar affect: clinical associations, social impact and quality of life implications - Lessons from PLS.

Journal of neurology
2025

HIV associated motor neuron disease (MND): A case series with systematic review of literature.

Journal of neurovirology
2025

Cervical Collar Satisfaction and Functional Impact in Amyotrophic Lateral Sclerosis: A Survey Study.

American journal of physical medicine &amp; rehabilitation
2025

The Role of Gastrostomy and Noninvasive Ventilation in Primary Lateral Sclerosis.

Muscle &amp; nerve
2025

Hypothalamic atrophy in primary lateral sclerosis, assessed by convolutional neural network-based automatic segmentation.

Scientific reports
2025

Association between cardiometabolic diseases and the risk and progression of motor neuron diseases in Sweden: a population-based case-control study.

The Lancet regional health. Europe
2025

High-density multielectrode arrays bring cellular resolution to neuronal activity and network analyses of corticospinal motor neurons.

Scientific reports
2024

Diagnosing primary lateral sclerosis: a clinico-pathological study.

Journal of neurology
2025

Motor Neuron Diseases and Central Nervous System Tractopathies: Clinical-Radiologic Correlation and Diagnostic Approach.

Radiographics : a review publication of the Radiological Society of North America, Inc
2024

Development and validation a novel FEZF2 based fluorescent reporter for corticospinal motor neurons.

Metabolic brain disease
2025

Utilizing quantitative susceptibility mapping to differentiate primary lateral sclerosis from progressive supranuclear palsy: A case report.

Neuropathology : official journal of the Japanese Society of Neuropathology
2025

Amyotrophic lateral sclerosis established as a multistep process across phenotypes.

European journal of neurology
2025

Phenotype and Genotype of Children with ALS2 gene-Related Disorder.

Neuropediatrics
2024

Safety and efficacy of memantine and trazodone versus placebo for motor neuron disease (MND SMART): stage two interim analysis from the first cycle of a phase 3, multiarm, multistage, randomised, adaptive platform trial.

The Lancet. Neurology
2024

A microRNA diagnostic biomarker for amyotrophic lateral sclerosis.

Brain communications
2024

Longitudinal analysis of glymphatic function in amyotrophic lateral sclerosis and primary lateral sclerosis.

Brain : a journal of neurology
2024

Comparative analysis of neurofilaments and biomarkers of muscular damage in amyotrophic lateral sclerosis.

Brain communications
2024

An autopsy case of progressive supranuclear palsy with severe corticospinal tract degeneration.

Neuropathology : official journal of the Japanese Society of Neuropathology
2024

Reliability and consistency of the Japanese version of the Primary Lateral Sclerosis Functional Rating Scale.

BMC neurology
2024

Primary lateral sclerosis associated with PSEN1 Pro284Leu variant in a Colombian family: Clinical and neuropathological features.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2025

Upper motor neuron-predominant motor neuron disease presenting as atypical parkinsonism: A clinicopathological study.

Brain pathology (Zurich, Switzerland)
2024

Decoding genetic and pathophysiological mechanisms in amyotrophic lateral sclerosis and primary lateral sclerosis: A comparative study of differentially expressed genes and implicated pathways in motor neuron disorders.

Advances in protein chemistry and structural biology
2024

Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS.

BMC genomics
2024

Analysis and occurrence of biallelic pathogenic repeat expansions in RFC1 in a German cohort of patients with a main clinical phenotype of motor neuron disease.

Journal of neurology
2024

Autonomic impairment in primary lateral sclerosis.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2024

Serum neurofilament light chain in distinct phenotypes of amyotrophic lateral sclerosis: A longitudinal, multicenter study.

European journal of neurology
2024

The periprocedural respiratory safety of propofol sedation in patients with a motor neuron disease undergoing percutaneous endoscopic gastrostomy insertion.

Journal of the neurological sciences
2025

Could PLS represent a UMN-predominant ALS syndrome?

Revue neurologique
2024

Acceptance and Commitment Therapy plus usual care for improving quality of life in people with motor neuron disease (COMMEND): a multicentre, parallel, randomised controlled trial in the UK.

Lancet (London, England)
2024

Upper motor neuron signs in primary lateral sclerosis and hereditary spastic paraplegia.

Muscle &amp; nerve
2024

Clinical and neuroimaging characteristics of primary lateral sclerosis with overlapping features of progressive supranuclear palsy.

European journal of neurology
2024

Repeat expansions in AR, ATXN1, ATXN2 and HTT in Norwegian patients diagnosed with amyotrophic lateral sclerosis.

Brain communications
2024

Harnessing Big Data in Amyotrophic Lateral Sclerosis: Machine Learning Applications for Clinical Practice and Pharmaceutical Trials.

Journal of integrative neuroscience
2024

Whole-body fasciculation detection in amyotrophic lateral sclerosis using motor unit MRI.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
2024

Supra- and infra-tentorial degeneration patterns in primary lateral sclerosis: a multimodal longitudinal neuroradiology study.

Journal of neurology
2024

Primary lateral sclerosis: application and validation of the 2020 consensus diagnostic criteria in an expert opinion-based PLS cohort.

Journal of neurology, neurosurgery, and psychiatry
2024

Phenotypic Spectrum of Progressive Supranuclear Palsy: Clinical Study and Apolipoprotein E Effect.

Journal of movement disorders
2024

Primary Lateral Sclerosis: An Overview.

Journal of clinical medicine
2024

Primary lateral sclerosis: more than just an upper motor neuron disease.

Neural regeneration research
2024

Current challenges in primary lateral sclerosis diagnosis.

Expert review of neurotherapeutics
2023

Upper Limb Movement Execution Classification using Electroencephalography for Brain Computer Interface.

Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference
2024

A case of Mills' syndrome: initially characterized by one cerebral hemisphere atrophy and decreased brain metabolism then evolving into amyotrophic lateral sclerosis.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2023

Ketamine-Assisted Psychodynamic Psychotherapy.

Psychodynamic psychiatry
2024

An autopsy case of diffuse atypical argyrophilic grain disease (AGD) with presenile onset and three-year course of motor and cognitive impairment.

Neuropathology : official journal of the Japanese Society of Neuropathology
2024

Language deficits in primary lateral sclerosis: cortical atrophy, white matter degeneration and functional disconnection between cerebral regions.

Journal of neurology
2024

Familial motor neuron disease: co-occurrence of PLS and ALS (-FTD).

Amyotrophic lateral sclerosis &amp; frontotemporal degeneration
2023

Primary lateral sclerosis plus parkinsonism: a case report.

BMC neurology
2023

Primary lateral sclerosis.

Handbook of clinical neurology
2023

The hereditary spastic paraplegias.

Handbook of clinical neurology
2023

Creatine Kinase MB Isoenzyme Is a Complementary Biomarker in Amyotrophic Lateral Sclerosis.

International journal of molecular sciences
2023

Radiological correlates of pseudobulbar affect: Corticobulbar and cerebellar components in primary lateral sclerosis.

Journal of the neurological sciences
2023

Serum Neurofilaments in Motor Neuron Disease and Their Utility in Differentiating ALS, PMA and PLS.

Life (Basel, Switzerland)
2023

Role of the immune system in amyotrophic lateral sclerosis. Analysis of the natural killer cells and other circulating lymphocytes in a cohort of ALS patients.

BMC neurology
2023

Limited value of serum neurofilament light chain in diagnosing amyotrophic lateral sclerosis.

Brain communications
2023

Advantages of routine next-generation sequencing over standard genetic testing in the amyotrophic lateral sclerosis clinic.

European journal of neurology
2023

Cortico-muscular coherence in primary lateral sclerosis reveals abnormal cortical engagement during motor function beyond primary motor areas.

Cerebral cortex (New York, N.Y. : 1991)
2023

Genetic characterization of primary lateral sclerosis.

Journal of neurology
2023

Regional spreading pattern is associated with clinical phenotype in amyotrophic lateral sclerosis.

Brain : a journal of neurology
2023

Motor Band Sign in Primary Lateral Sclerosis: A Case Report Proposing the Need for an Imaging Biomarker.

Cureus
2023

Clinical and molecular spectrum of a large Egyptian cohort with ALS2-related disorders of infantile-onset of clinical continuum IAHSP/JPLS.

Clinical genetics
2023

Primary Lateral Sclerosis: Can Rocuronium Be an Option?

Cureus
2023

Phenotypic correlates of serum neurofilament light chain levels in amyotrophic lateral sclerosis.

Frontiers in aging neuroscience
2023

Utilizing machine learning and lipidomics to distinguish primary lateral sclerosis from amyotrophic lateral sclerosis.

Muscle &amp; nerve
2023

Not a benign motor neuron disease: longitudinal imaging captures relentless motor connectome disintegration in primary lateral sclerosis.

European journal of neurology
2022

Progress and challenges in directing the differentiation of human iPSCs into spinal motor neurons.

Frontiers in cell and developmental biology
2023

M1/precuneus ratio as a surrogate marker of upper motor neuron sign in ALS.

Journal of the neurological sciences
2023

Assessment of Safety of a Fully Implanted Endovascular Brain-Computer Interface for Severe Paralysis in 4 Patients: The Stentrode With Thought-Controlled Digital Switch (SWITCH) Study.

JAMA neurology
2023

Primary lateral sclerosis natural history study - planning, designing, and early enrollment.

Amyotrophic lateral sclerosis &amp; frontotemporal degeneration
2023

Genotype-phenotype characterisation of long survivors with motor neuron disease in Scotland.

Journal of neurology
2023

Globular glial tauopathy type II.

Practical neurology
2022

Current state of research on acupuncture for the treatment of amyotrophic lateral sclerosis: A scoping review.

Frontiers in neurology
2022

A randomised controlled trial of acceptance and commitment therapy plus usual care compared to usual care alone for improving psychological health in people with motor neuron disease (COMMEND): study protocol.

BMC neurology
2022

Progressive motor neuron syndromes with single CNS lesions and CSF oligoclonal bands: never forget solitary sclerosis!

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2022

Case report: A variant of the FIG4 gene with rapidly progressive amyotrophic lateral sclerosis.

Frontiers in neurology
2022

Mills' syndrome is a unique entity of upper motor neuron disease with N-shaped progression: Three case reports.

World journal of clinical cases
2022

Clinical Spectrum of Tauopathies.

Frontiers in neurology
2022

Parkinsonian Syndromes in Motor Neuron Disease: A Clinical Study.

Frontiers in aging neuroscience
2022

Nonalcoholic Fatty Liver Disease in Patients with Inherited and Sporadic Motor Neuron Degeneration.

Genes
2022

Segmental alterations of the corpus callosum in motor neuron disease: A DTI and texture analysis in 575 patients.

NeuroImage. Clinical
2022

Iron-sensitive MR imaging of the primary motor cortex to differentiate hereditary spastic paraplegia from other motor neuron diseases.

European radiology
2022

Cerebellar pathology in motor neuron disease: neuroplasticity and neurodegeneration.

Neural regeneration research
2022

The Global Burden of Motor Neuron Disease: An Analysis of the 2019 Global Burden of Disease Study.

Frontiers in neurology
2022

Arthroscopic Lateral Collateral Ligament Repair for the Acute Elbow Dislocation in Primary Lateral Sclerosis Patient: A Case Report.

Orthopedic reviews
2023

Motor Band Sign in Motor Neuron Disease: A Marker for Upper Motor Neuron Involvement.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
2022

Acoustic Change Over Time in Spastic and/or Flaccid Dysarthria in Motor Neuron Diseases.

Journal of speech, language, and hearing research : JSLHR
2022

Parental and child adjustment to amyotrophic lateral sclerosis: transformations, struggles and needs.

BMC psychology
2022

Primary lateral sclerosis: diagnostic contribution of brain [18F]FDG PET/CT.

Revista espanola de medicina nuclear e imagen molecular
2022

Frontotemporal Dementia as a Possible Manifestation of Primary Lateral Sclerosis: A Case Report and Literature Review.

Case reports in psychiatry
2022

Differential Diagnosis of Rare Subtypes of Progressive Supranuclear Palsy and PSP-Like Syndromes-Infrequent Manifestations of the Most Common Form of Atypical Parkinsonism.

Frontiers in aging neuroscience
2022

Does limited EMG denervation in early primary lateral sclerosis predict amyotrophic lateral sclerosis?

Amyotrophic lateral sclerosis &amp; frontotemporal degeneration
2022

Motor neuron disease in three asymptomatic pVal50Met TTR gene carriers.

Amyotrophic lateral sclerosis &amp; frontotemporal degeneration
2022

[Oral hygiene in patients with motor neuron disease: a cross-sectional survey].

Nederlands tijdschrift voor tandheelkunde
2022

Primary Lateral Sclerosis Presenting With Focal Onset Spreading Through Contiguous Neuroanatomic Regions.

Neurology
2022

Home-monitoring of vital capacity in people with a motor neuron disease.

Journal of neurology
2022

Asymmetrical Primary Lateral Sclerosis Presenting as Corticobasal Syndrome.

Journal of neuropathology and experimental neurology
2022

ALS2-Related Motor Neuron Diseases: From Symptoms to Molecules.

Biology
2022

Cerebellar degeneration in primary lateral sclerosis: an under-recognized facet of PLS.

Amyotrophic lateral sclerosis &amp; frontotemporal degeneration
2021

A Case Report on Robot-Aided Gait Training in Primary Lateral Sclerosis Rehabilitation: Rationale, Feasibility and Potential Effectiveness of a Novel Rehabilitation Approach.

Innovations in clinical neuroscience
2022

AI-based protein structure databases have the potential to accelerate rare diseases research: AlphaFoldDB and the case of IAHSP/Alsin.

Drug discovery today
2021

Imaging data reveal divergent longitudinal trajectories in PLS, ALS and poliomyelitis survivors: Group-level and single-subject traits.

Data in brief
2022

Phenotypic categorisation of individual subjects with motor neuron disease based on radiological disease burden patterns: A machine-learning approach.

Journal of the neurological sciences
2022

Upper motor neurons are a target for gene therapy and UCHL1 is necessary and sufficient to improve cellular integrity of diseased upper motor neurons.

Gene therapy
2021

CSF Heavy Neurofilament May Discriminate and Predict Motor Neuron Diseases with Upper Motor Neuron Involvement.

Biomedicines
2021

Half Wine Glass Appearance in Early Primary Lateral Sclerosis.

Neurology India
2021

Amyotrophic lateral sclerosis (ALS) and the endocrine system: Are there any further ties to be explored?

Aging brain
2022

The expanding clinical and genetic spectrum of alsin-related disorders: the first cohort of Brazilian patients.

Amyotrophic lateral sclerosis &amp; frontotemporal degeneration
2021

Electromyographic findings in primary lateral sclerosis during disease progression.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
2022

Familial clustering of primary lateral sclerosis and amyotrophic lateral sclerosis: Supplementary evidence for a continuum.

European journal of neurology
2021

Emotional Processing and Experience in Amyotrophic Lateral Sclerosis: A Systematic and Critical Review.

Brain sciences
2022

Propagation patterns in motor neuron diseases: Individual and phenotype-associated disease-burden trajectories across the UMN-LMN spectrum of MNDs.

Neurobiology of aging
2021

Blenderized Tube Feeding and Enterostomy Tube Occlusions Among Adults with Amyotrophic Lateral Sclerosis and Primary Lateral Sclerosis.

Canadian journal of dietetic practice and research : a publication of Dietitians of Canada = Revue canadienne de la pratique et de la recherche en dietetique : une publication des Dietetistes du Canada
2021

Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome.

Frontiers in molecular neuroscience
2021

Frontotemporal Pathology in Motor Neuron Disease Phenotypes: Insights From Neuroimaging.

Frontiers in neurology
2021

Bradykinesia in motoneuron diseases.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
2021

The Upper Motor Neuron-Improved Knowledge from ALS and Related Clinical Disorders.

Brain sciences
2022

Role of the nigrosome 1 absence as a biomarker in amyotrophic lateral sclerosis.

Journal of neurology
2021

Gold Coast diagnostic criteria: Implications for ALS diagnosis and clinical trial enrollment.

Muscle &amp; nerve
2021

Utility of Transcranial Magnetic Simulation in Studying Upper Motor Neuron Dysfunction in Amyotrophic Lateral Sclerosis.

Brain sciences
2021

Combining structural and metabolic markers in a quantitative MRI study of motor neuron diseases.

Annals of clinical and translational neurology
2021

The diagnostic challenge of primary lateral sclerosis: the integration of clinical, genetic and radiological cues.

European journal of neurology
2021

Initial Cerebellar Ataxia in Hereditary Adult-Onset Primary Lateral Sclerosis.

Case reports in neurology
2022

Primary Lateral Sclerosis: Clinical, radiological and molecular features.

Revue neurologique
2021

Lipidomics study of plasma from patients suggest that ALS and PLS are part of a continuum of motor neuron disorders.

Scientific reports
2021

SMN1 Duplications Are Associated With Progressive Muscular Atrophy, but Not With Multifocal Motor Neuropathy and Primary Lateral Sclerosis.

Neurology. Genetics
2021

Upper Motor Neuron Disorders: Primary Lateral Sclerosis, Upper Motor Neuron Dominant Amyotrophic Lateral Sclerosis, and Hereditary Spastic Paraplegia.

Brain sciences
2021

Prevalence of multimorbidity and its impact on survival in people with motor neuron disease.

European journal of neurology
2021

Distinguishing Primary Lateral Sclerosis from Parkinsonian Syndromes with the Help of Advanced Imaging.

Journal of nuclear medicine : official publication, Society of Nuclear Medicine
2021

Mutations and Protein Interaction Landscape Reveal Key Cellular Events Perturbed in Upper Motor Neurons with HSP and PLS.

Brain sciences
2021

Estimation of the prevalence and incidence of motor neuron diseases in two Spanish regions: Catalonia and Valencia.

Scientific reports
2021

Natural History of "Pure" Primary Lateral Sclerosis.

Neurology
2021

Improving mitochondria and ER stability helps eliminate upper motor neuron degeneration that occurs due to mSOD1 toxicity and TDP-43 pathology.

Clinical and translational medicine
2020

Clinical care and therapeutic trials in PLS.

Amyotrophic lateral sclerosis &amp; frontotemporal degeneration
2020

Measuring disease progression in primary lateral sclerosis.

Amyotrophic lateral sclerosis &amp; frontotemporal degeneration
2020

Neuroimaging in primary lateral sclerosis.

Amyotrophic lateral sclerosis &amp; frontotemporal degeneration
2020

Better understanding the neurobiology of primary lateral sclerosis.

Amyotrophic lateral sclerosis &amp; frontotemporal degeneration
2020

The clinical spectrum of primary lateral sclerosis.

Amyotrophic lateral sclerosis &amp; frontotemporal degeneration
2020

Genetics of primary lateral sclerosis.

Amyotrophic lateral sclerosis &amp; frontotemporal degeneration
2020

Neurophysiological features of primary lateral sclerosis.

Amyotrophic lateral sclerosis &amp; frontotemporal degeneration
2020

Neuropathology of primary lateral sclerosis.

Amyotrophic lateral sclerosis &amp; frontotemporal degeneration
2021

Diagnostics of Amyotrophic Lateral Sclerosis: Up to Date.

Diagnostics (Basel, Switzerland)
2021

Progression of cognitive and behavioral disturbances in motor neuron diseases assessed using standard and computer-based batteries.

Amyotrophic lateral sclerosis &amp; frontotemporal degeneration
2020

Case Report: Association of a Variant of Unknown Significance in the FIG4 Gene With Frontotemporal Dementia and Slowly Progressing Motoneuron Disease: A Case Report Depicting Common Challenges in Clinical and Genetic Diagnostics of Rare Neuropsychiatric and Neurologic Disorders.

Frontiers in neuroscience
2021

Extra-motor cerebral changes and manifestations in primary lateral sclerosis.

Brain imaging and behavior
2021

The cutaneous silent period in motor neuron disease.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
2022

A case of vertebral artery compression syndrome mimicking primary lateral sclerosis.

The International journal of neuroscience
2021

Importance of lipids for upper motor neuron health and disease.

Seminars in cell &amp; developmental biology
2021

The Importance of Personally Reviewing Imaging for Clinical Correlation: A Case of Thoracic Spinal Stenosis Masquerading as a Motor Neuron Disease.

American journal of physical medicine &amp; rehabilitation
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Doenças relacionadas

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. The Amyotrophic Lateral Sclerosis House Call Program: A Single-Center Experience in the United States.
    Neurology research international· 2026· PMID 41769387mais citado
  2. TBK1-Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia.
    Annals of clinical and translational neurology· 2026· PMID 41645024mais citado
  3. Demographic, clinical and genetic characteristics of patients with amyotrophic lateral sclerosis from two specialised centres in Austria.
    Journal of neurology· 2026· PMID 41513843mais citado
  4. The Epidemiology of Primary Lateral Sclerosis: Results from a Population-Based Cohort.
    Annals of neurology· 2026· PMID 41316718mais citado
  5. Primary Lateral Sclerosis Natural History Study: Primary Lateral Sclerosis Functional Rating Scale and Other Outcomes Assessment.
    Annals of neurology· 2026· PMID 41020440mais citado
  6. Primary lateral sclerosis in Brazil: phenotypic heterogeneity, non-motor features, and prognostic markers in a 17-year multicentre cohort.
    Amyotroph Lateral Scler Frontotemporal Degener· 2026· PMID 41974023recente
  7. Disappearing corticospinal tract on routine MRI: dynamic signal evolution in primary lateral sclerosis.
    BMJ Case Rep· 2026· PMID 41951265recente
  8. Neuroimaging confirms selective cerebral involvement in primary lateral sclerosis and predilection to brain regions with high metabolic activity.
    Rev Neurol (Paris)· 2026· PMID 41925483recente
  9. Expanding the Motor Band Sign in Motor Neuron Disease Using 7T MRI: Visualization of Cortical Layer-Dependent Iron Deposition in the Primary Motor Cortex.
    Muscle Nerve· 2026· PMID 41792976recente
  10. Prospective Validation of the New PLS Diagnostic Criteria From PLS Natural History Study: EMG and Neurofilament Analyses.
    Muscle Nerve· 2026· PMID 41772409recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:35689(Orphanet)
  2. MONDO:0018155(MONDO)
  3. GARD:10684(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q2881413(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Esclerose lateral primária
Compêndio · Raras BR

Esclerose lateral primária

ORPHA:35689 · MONDO:0018155
Prevalência
1-9 / 100 000
Herança
Autosomal dominant, Autosomal recessive, Not applicable
CID-10
G12.2 · Doença do neurônio motor
CID-11
Ensaios
38 ativos
Início
Adult, Elderly
Prevalência
1.5 (Europe)
MedGen
UMLS
C0154682
EuropePMC
Wikidata
Papers 10a
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