Raras
Buscar doenças, sintomas, genes...
Parkinsonismo com polineuropatia
ORPHA:611237CID-10 · G20OMIM 619279DOENÇA RARA

Neuropatia ou transtorno/distúrbio neurológico é um termo geral que se refere a doenças ou problemas no funcionamento dos nervos (patologias). Nervos podem ser comprometidos por problemas genéticos, infecções, toxinas, drogas, lesões físicas ou mesmo por reações do próprio organismo. Neuropatias são classificadas de acordo com a causa e localização dos nervos que são afetados ou pelas características da lesão.

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Introdução

O que você precisa saber de cara

📋

Parkinsonismo com polineuropatia é uma condição autossômica dominante associada ao gene UQCRC1. Caracteriza-se por parkinsonismo responsivo à dopamina e polineuropatia, com atrofia cerebral difusa e alterações na condução nervosa.

Publicações científicas
953 artigos
Último publicado: 2026 Apr 9

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
4
pacientes catalogados
Início
Adult
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: G20
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (2)
0202010694
Sequenciamento completo do exoma (WES)genetic_test
0301070040
Atendimento em reabilitação — doenças rarasrehabilitation
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

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

Partes do corpo afetadas

🧠
Neurológico
5 sintomas
💪
Músculos
1 sintomas

+ 8 sintomas em outras categorias

Características mais comuns

100%prev.
Rigidez
Frequência: 8/8
100%prev.
Bradicinesia
Frequência: 8/8
100%prev.
Amplitude diminuída do potencial de ação muscular composto
Frequência: 5/5
100%prev.
Ansiedade
Frequência: 5/5
100%prev.
Parkinsonismo com resposta favorável à medicação dopaminérgica
Frequência: 8/8
100%prev.
Amplitude diminuída dos potenciais de ação sensoriais
Frequência: 5/5
14sintomas
Muito frequente (8)
Frequente (5)
Sem dados (1)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 14 características clínicas mais associadas, ordenadas por frequência.

RigidezRigidity
Frequência: 8/8100%
BradicinesiaBradykinesia
Frequência: 8/8100%
Amplitude diminuída do potencial de ação muscular compostoDecreased compound muscle action potential amplitude
Frequência: 5/5100%
AnsiedadeAnxiety
Frequência: 5/5100%
Parkinsonismo com resposta favorável à medicação dopaminérgicaParkinsonism with favorable response to dopaminergic medication
Frequência: 8/8100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa7
Total histórico953PubMed
Últimos 10 anos200publicações
Pico202140 papers
Linha do tempo
20202019Hoje · 2026🧪 2009Primeiro ensaio clínico📈 2021Ano 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

1 gene identificado com associação a esta condição.

UQCRC1Cytochrome b-c1 complex subunit 1, mitochondrialDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular

LOCALIZAÇÃO

Mitochondrion inner membrane

VIAS BIOLÓGICAS (2)
Respiratory electron transportComplex III assembly
MECANISMO DE DOENÇA

Parkinsonism with polyneuropathy

An autosomal dominant disorder characterized by late-onset, levodopa-responsive parkinsonism with asymmetric tremor, rigidity and bradykinesia. Patients also manifest a sensorimotor polyneuropathy with variable degrees of distal legs and hands muscle atrophy and weakness, and absent deep tendon reflexes.

EXPRESSÃO TECIDUAL(Ubíquo)
Coração - Ventrículo esquerdo
391.7 TPM
Músculo esquelético
369.8 TPM
Coração - Átrio
264.3 TPM
Testículo
205.7 TPM
Cólon transverso
202.2 TPM
OUTRAS DOENÇAS (1)
parkinsonism with polyneuropathy
HGNC:HGNC:12585UniProt:P31930

Variantes genéticas (ClinVar)

19 variantes patogênicas registradas no ClinVar.

🧬 UQCRC1: GRCh37/hg19 3p26.3-14.3(chr3:2263690-55016039)x3 ()
🧬 UQCRC1: NM_003365.3(UQCRC1):c.966+14C>T ()
🧬 UQCRC1: NM_003365.3(UQCRC1):c.91_108dup (p.Ala36_Thr37insAlaLeuArgSerThrAla) ()
🧬 UQCRC1: NM_003365.3(UQCRC1):c.736G>A (p.Ala246Thr) ()
🧬 UQCRC1: NM_003365.3(UQCRC1):c.964G>A (p.Val322Met) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 12 variantes classificadas pelo ClinVar.

4
8
Patogênica (33.3%)
VUS (66.7%)
VARIANTES MAIS SIGNIFICATIVAS
UQCRC1: NM_003365.3(UQCRC1):c.359T>C (p.Leu120Pro) [Likely pathogenic]
LOC129936713: NM_003365.3(UQCRC1):c.[70-1G>A;73dup] [Pathogenic]
UQCRC1: NM_003365.3(UQCRC1):c.931A>C (p.Ile311Leu) [Pathogenic]
UQCRC1: NM_003365.3(UQCRC1):c.941A>C (p.Tyr314Ser) [Pathogenic]
UQCRC1: NM_003365.3(UQCRC1):c.953A>C (p.Tyr318Ser) [Uncertain significance]

Vias biológicas (Reactome)

2 vias biológicas associadas aos genes desta condição.

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.
·Pré-clínico5
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 5 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Parkinsonismo com polineuropatia

🗺️

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

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

Outros ensaios clínicos

0 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

🥉Melhor nível de evidência: Relato de caso
Timeline de publicações
0 papers (10 anos)
#1

Longitudinal Evaluation of Polyneuropathy in Atypical Parkinsonian Syndromes.

Neurology international2026 Feb 03

Background: In Parkinson's disease (PD), a higher prevalence of polyneuropathy (PNP) is increasingly recognized, although the causal association is still under debate. In contrast, PNP in atypical parkinsonian syndromes (APS) has been insufficiently addressed, despite preliminary evidence suggesting elevated prevalence. Methods: Nerve conduction studies were performed on 13 patients with multiple system atrophy (MSA) and 9 patients with progressive supranuclear palsy (PSP) at baseline. PNP was diagnosed according to standard electrophysiological criteria after exclusion of common secondary causes. Comprehensive clinical evaluation included motor and non-motor assessments over two years of follow-up. Results: At baseline, PNP was present in 53.8% of MSA patients and 66.7% of PSP patients. MSA patients with PNP showed greater motor symptom severity (UPDRS III score; p = 0.046) and worse cognitive performance (MoCA; p = 0.044) compared to those without PNP. Over two years, a significant reduction in the tibial nerve amplitude was observed exclusively in MSA patients (p = 0.039), paralleling disease progression. Conclusions: This study provides the first longitudinal evaluation of clinical and electrophysiological PNP progression in MSA and PSP. A high comorbidity of PNP in patients with APS could contribute to motor and sensory impairments in these patients. Our findings indicate that PNP progression may reflect disease progression in MSA. Given the limited sample size, larger-scale longitudinal studies are needed to further investigate biomarker potential of PNP in APS and to clarify differences in peripheral nerve involvement between synucleinopathies and tauopathies.

#2

Pearls & Oy-sters: Hereditary Spastic Paraplegia Type 15 Presenting as Juvenile Onset Levodopa-Responsive Parkinsonism.

Neurology2026 Feb 10

We report the case of a 27-year-old man with a history of speech delay and chronic, progressive movement disorder. He first developed gait difficulty at the age of 12. Given clinical signs of bradykinesia and resting tremor, he received a clinical diagnosis of childhood-onset parkinsonism. Treatment with oral levodopa initially improved symptoms, but after 2 years, he developed motor fluctuations and dyskinesias. Additional signs of spasticity and brain MRI showing a thin corpus callosum prompted genetic testing that identified a heterozygous pathogenic variant in the PRKN gene. However, he exhibited a progressive loss of response to chronic dopaminergic therapy, first with oral and later with continuous levodopa-carbidopa intestinal gel infusion, with disease progression over 7 years. This progression led to further genetic testing and the diagnosis of hereditary spastic paraplegia type 15 (SPG 15). Advancing motor symptoms prompted deep brain stimulation and botulinum toxin injections, although these had limited benefit. This case highlights the challenges of diagnosing and managing juvenile-onset parkinsonism and the value of comprehensive genetic analysis in evaluating genotypic-phenotypic correlations. Hereditary spastic paraplegias (HSPs) are a rare group of neurodegenerative disorders with diverse clinical and genetic features. They can be inherited in autosomal dominant, recessive, X-linked, or mitochondrial patterns. The SPG15 subtype (or HSP-ZFYVE26), caused by pathogenic variants in the ZFYVE26 gene, is a common form of autosomal recessive HSP. Presenting symptoms vary but commonly include cognitive impairment with a history of speech delay or learning disability and balance impairment or clumsiness from spasticity of the lower limbs.

#3

DISTRICTS trial: enhancing carpal tunnel syndrome treatment - Authors' reply.

Lancet (London, England)2026 Jan 10
#4

Corneal confocal microscopy as a paraclinical test in neurodegenerative disease: a scoping review.

The British journal of ophthalmology2026 Jan 28

Corneal confocal microscopy (CCM) is a non-invasive imaging technique that enables quantification of the corneal sub-basal nerve plexus and has emerged as a potential surrogate biomarker for peripheral neurodegeneration. This scoping review evaluated current evidence on the use of CCM in assessing corneal nerve fibre changes across neurodegenerative diseases (NDDs) and explored its potential as a paraclinical diagnostic and monitoring tool. A comprehensive search of PubMed and Scopus was conducted in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews guidelines to identify studies reporting quantitative CCM metrics, including corneal nerve fibre density (CNFD), corneal nerve branch density (CNBD) and corneal nerve fibre length (CNFL). Both cross-sectional and longitudinal studies of patients with NDDs were included, and findings were narratively synthesised. 50 studies were included: Parkinson's disease (n=13), multiple sclerosis (n=11), cerebrovascular accidents (n=7), post-COVID-19 neuropathy (n=5), amyotrophic lateral sclerosis (n=4), chronic inflammatory demyelinating polyneuropathy (n=4), Alzheimer's disease (n=3), Fabry disease (n=2) and neurofibromatosis type 1 (n=1). CNFL and CNFD were consistently reduced in Parkinson's disease, multiple sclerosis, cerebrovascular accidents, amyotrophic lateral sclerosis, chronic inflammatory demyelinating polyneuropathy and post-COVID-19 neuropathy, whereas CNBD results were inconsistent. The strongest evidence supported the role of CCM in Parkinson's disease and multiple sclerosis. CNFL and CNFD emerged as the most reliable CCM-derived metrics across NDDs, supporting their potential as objective biomarkers for neurodegeneration. While findings support the potential of CCM as a paraclinical diagnostic tool, methodological heterogeneity in image acquisition, analysis software and study design limited comparability. Standardised imaging and analysis protocols are needed to enable broader clinical application and validation across NDDs.

#5

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

Amyotrophic lateral sclerosis &amp; frontotemporal degeneration2026 Feb

Neurodegenerative upper motor neuron (UMN) syndromes ranging from primary lateral sclerosis (PLS) to pure and complicated types of hereditary spastic paraplegia (HSP) remain challenging to differentiate clinically, especially in the early stages of disease. As they share the hallmark of spastic paraparesis, easily accessible biomarkers are warranted to facilitate an early diagnosis. We examined serum neurofilament light chain (sNfL) and serum glial fibrillary acidic protein (sGFAP) as diagnostic biomarkers to differentiate PLS from HSP, represented by two paradigmatic subtypes: SPG4, the most common type of pure HSP, and adrenomyeloneuropathy (AMN), a common complicated form of HSP. In addition to sNfL and sGFAP raw levels, we used age-adjusted z-scores to account for age-related biomarker level increases. In our cohort of 18 PLS patients, 18 AMN patients, 25 SPG4 patients and 60 controls, sNfL z-scores were higher in PLS than in SPG4 (p < 0.001), AMN (p = 0.03), and controls (p < 0.001). Furthermore, sNfL z-scores allowed distinguishing PLS from SPG4 (AUC 0.82, 95% CI 0.67-0.98) and-slightly less accurate-from AMN (AUC 0.77, 95% CI 0.60-0.95). sGFAP z-scores did not differ significantly between groups. Our study suggests that serum NfL, but not GFAP, is a potential diagnostic biomarker in degenerative UMN diseases and may help to differentiate PLS from pure and complicated forms of HSP. Our results indicate that axonal degeneration-the source of NfL release-is predominant over astrocytic pathology-the source of GFAP release-in PLS, AMN, and SPG4.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC3 artigos no totalmostrando 194

2026

Acute Inflammatory Demyelinating Polyradiculoneuropathy-like Associated with Subcutaneous Foslevodopa-Foscarbidopa: First Report.

Movement disorders : official journal of the Movement Disorder Society
2026

Longitudinal Evaluation of Polyneuropathy in Atypical Parkinsonian Syndromes.

Neurology international
2026

Corneal confocal microscopy as a paraclinical test in neurodegenerative disease: a scoping review.

The British journal of ophthalmology
2026

DISTRICTS trial: enhancing carpal tunnel syndrome treatment - Authors' reply.

Lancet (London, England)
2026

Pearls & Oy-sters: Hereditary Spastic Paraplegia Type 15 Presenting as Juvenile Onset Levodopa-Responsive Parkinsonism.

Neurology
2025

Electrophysiological and biochemical evaluations of neuropathy risk in oral levodopa versus levodopa/carbidopa intestinal gel treatment.

Arquivos de neuro-psiquiatria
2025

Phenotypic spectrum of variants in the FIG4 gene: variants associated with Charcot-Marie-Tooth 4J and parkinsonism.

European journal of medical genetics
2025

Idiopathic polyneuropathy with neurogenic autonomic failure - an early manifestation of Lewy body disease? a case report.

BMC neurology
2025

Polyneuropathy in Parkinson's disease and atypical Parkinsonian syndromes: clinical impact and risk factors.

Journal of neural transmission (Vienna, Austria : 1996)
2025

Ocular Surface Changes Associated with Neurological Diseases.

Medicina (Kaunas, Lithuania)
2025

Clinical Reasoning: A 58-Year-Old Man With Resting Tremor, Bradykinesia, and Distal Numbness.

Neurology
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

Clinical and functional analysis of KIF5A related spastic paraplegia type 10.

Parkinsonism &amp; related disorders
2025

Spastic Ataxia Composite (SPAXCOM): A Scale to Evaluate the Progression of Subjects with Spasticity and Ataxia.

Movement disorders : official journal of the Movement Disorder Society
2025

Comorbid pathologies and their impact on progressive supranuclear palsy: current view.

Journal of neural transmission (Vienna, Austria : 1996)
2025

Further delineation of LRSAM1-related Charcot-Marie-Tooth type 2P with parkinsonism.

European journal of medical genetics
2025

HPDL Biallelic Variants in Cerebral Palsy and Childhood-Onset Hereditary Spastic Paraplegia: Human and Zebrafish Insights.

Movement disorders : official journal of the Movement Disorder Society
2025

Subacute Painful Axonal Polyneuropathy Associated with Foslevodopa/Foscarbidopa Subcutaneous Infusion in Advanced Parkinson's Disease.

Movement disorders : official journal of the Movement Disorder Society
2025

Anti-VGLUT2 autoantibodies in neurological diseases.

Brain, behavior, and immunity
2025

High Genetic Diagnostic Yield for Patients with Rare Movement Disorders at a Single-Center Neurogenetics Clinic.

Movement disorders clinical practice
2025

Identification of GGC Repeat Expansions in ZFHX3 among Chilean Movement Disorder Patients.

Movement disorders : official journal of the Movement Disorder Society
2025

Objective assessments for walking aid prescription in balance impairment and falls risk: a scoping review of current evidence.

Disability and rehabilitation. Assistive technology
2025

Phenotypic and molecular characterization of a recurrent SPTAN1 mutation causing SPG91.

Molecular biology reports
2025

Motor Neuron Involvement in Two ATP13A2-Related Families: ALS And HSP-Like Phenotypes.

Movement disorders clinical practice
2025

Three Cases of Spinocerebellar Ataxia Type 2 (SCA2) and Pediatric Literature Review: Do Not Forget Trinucleotide Repeat Disorders in Childhood-Onset Progressive Ataxia.

Brain sciences
2025

Effect of Brief Electrical Stimulation on Cell Biomechanics in Hereditary Sensory Neuropathy.

Small (Weinheim an der Bergstrasse, Germany)
2025

Neurotoxicity of levodopa/carbidopa intestinal gel preparations can cause polyneuropathy in Parkinson's Disease patients.

Neurologia i neurochirurgia polska
2025

Heterozygous variants in AP4S1 are not associated with a neurological phenotype.

Annals of clinical and translational neurology
2025

[Neurology: what's new in 2024].

Revue medicale suisse
2025

Blended phenotype of TECPR2-associated hereditary sensory-autonomic neuropathy and Temple syndrome.

Annals of clinical and translational neurology
2024

A Novel GBF1 Variant in a Charcot-Marie-Tooth Type 2: Insights from Familial Analysis.

Genes
2025

Expanding molecular and clinical spectrum of CPT1C-associated hereditary spastic paraplegia (SPG73)-a case series.

Annals of clinical and translational neurology
2025

Polyneuropathy in Parkinson's Disease is Highly Prevalent and Not Related to Treatment.

Clinical therapeutics
2025

Neurotoxicity and Rare Adverse Events in BCMA-Directed CAR T Cell Therapy: A Comprehensive Analysis of Real-World FAERS Data.

Transplantation and cellular therapy
2025

Comparison of Clinical and Electrophysiologic Characteristics of Peripheral Neuropathy in Progressive Supranuclear Palsy and Parkinson's Disease: An Observational Study.

Annals of Indian Academy of Neurology
2024

Polyneuropathy and levodopa therapy in Parkinson's Disease: an evolving clinical challenge.

Neurologia i neurochirurgia polska
2025

Unraveling Isoform Complexity: The Roles of M1- and M87-Spastin in Spastic Paraplegia 4 (SPG4).

Movement disorders : official journal of the Movement Disorder Society
2024

Acute polyneuropathy: a serious complication of levodopa/ /carbidopa intestinal gel treatment for Parkinson's Disease.

Neurologia i neurochirurgia polska
2025

A Homoplasmic MT-TV Mutation Associated with Mitochondrial Inheritance of Hereditary Spastic Paraplegia.

Movement disorders : official journal of the Movement Disorder Society
2024

Large-fiber neuropathy in Parkinson's disease: a narrative review.

Neurological research and practice
2024

FIG4-Related Parkinsonism and the Particularities of the I41T Mutation: A Review of the Literature.

Genes
2024

Assessment of swallowing performance in patients with neurodegenerative disease: A hierarchical cluster analysis.

Brain and behavior
2024

Robot-assisted gait training in patients with various neurological diseases: A mixed methods feasibility study.

PloS one
2024

Neurofilaments in neurologic disease.

Advances in clinical chemistry
2024

Longitudinal evaluation of polyneuropathy in Parkinson's disease.

Journal of neurology
2024

[Influence of neurological diseases on mobility and ability to drive].

Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz
2024

MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study.

Movement disorders : official journal of the Movement Disorder Society
2024

Parkinson's disease and vitamins: a focus on vitamin B12.

Journal of neural transmission (Vienna, Austria : 1996)
2024

Association between cytomegalovirus infection and neurological disorders: A systematic review.

Reviews in medical virology
2024

RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.

Brain : a journal of neurology
2024

Clinical and Genetic Spectrum in a Large Cohort of Hereditary Spastic Paraplegia.

Movement disorders : official journal of the Movement Disorder Society
2024

A novel ATP13A2 variant causing complicated hereditary spastic paraplegia.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2024

Fragile X premutation mimicking late onset hereditary spastic paraplegia.

Parkinsonism &amp; related disorders
2024

Expert commentary for fragile X premutation mimicking late onset hereditary spastic paraplegia.

Parkinsonism &amp; related disorders
2024

Parkinson's disease and chronic inflammatory demyelinating polyneuropathy: Broadening the clinical spectrum of VCP mutations.

Parkinsonism &amp; related disorders
2023

Movement disorders in hereditary spastic paraplegias.

Arquivos de neuro-psiquiatria
2024

Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization.

Movement disorders : official journal of the Movement Disorder Society
2024

Rare variant analysis of UQCRC1 in Chinese patients with early-onset Parkinson's disease.

Neurobiology of aging
2024

A novel frameshift DDHD1 mutation in a patient with hereditary spastic paraplegia type 28: Case report and review of the literature.

Parkinsonism &amp; related disorders
2024

Clinical and genetic features of patients suffering from CMT4J.

Journal of neurology
2024

Guillain-Barré syndrome following subthalamic nucleus - Deep Brain Stimulation in Parkinson's disease: A case report.

Revue neurologique
2023

Impact of social-functioning and sleep on quality of life in chronic inflammatory demyelinating polyneuropathy.

Clinical neurology and neurosurgery
2024

The comorbidity and co-medication profile of patients with progressive supranuclear palsy.

Journal of neurology
2024

Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum.

Journal of neurology
2023

Examining the National Representativeness of the Axon Registry: A Neurology-Specific Patient Registry.

Neurology
2023

Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia.

Movement disorders : official journal of the Movement Disorder Society
2023

Before blaming levodopa/carbidopa intestinal gel for demyelinating polyneuropathy, all differential aetiologies must be ruled out.

Neurologia i neurochirurgia polska
2023

Alu Retrotransposition Event in SPAST Gene as a Novel Cause of Hereditary Spastic Paraplegia.

Movement disorders : official journal of the Movement Disorder Society
2023

Epidemiology of small intestinal bacterial overgrowth.

World journal of gastroenterology
2023

Magnetic resonance neurography and diffusion tensor imaging of the sciatic nerve in hereditary transthyretin amyloidosis polyneuropathy.

Journal of neurology
2023

Parkinsonism in spinocerebellar ataxia with axonal neuropathy caused by adult-onset COA7 variants: a case report.

BMC neurology
2023

A systematic review of the potential consequences of abnormal serum levels of vitamin B6 in people living with Parkinson's disease.

Journal of the neurological sciences
2024

Oral Levodopa, Vitamin B6, and Polyneuropathy: A Case Series.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
2023

Data-driven subtyping of Parkinson's disease: comparison of current methodologies and application to the Bochum PNS cohort.

Journal of neural transmission (Vienna, Austria : 1996)
2023

The value of electrochemical skin conductance measurement by Sudoscan® for assessing autonomic dysfunction in peripheral neuropathies beyond diabetes.

Neurophysiologie clinique = Clinical neurophysiology
2022

Prevalence and Risk Factors of Peripheral Neuropathy in Parkinson's Disease.

Annals of Indian Academy of Neurology
2023

Early-onset parkinsonism and hereditary spastic paraplegia type 7: pearls and pitfalls.

Parkinsonism &amp; related disorders
2023

Vagal cross-sectional area correlates with parasympathetic dysfunction in Parkinson's disease.

Brain communications
2023

Acute/subacutae demyelinating polyneuropathy in Parkinson's Disease patients on levodopa-carbidopa intestinal gel therapy: systematic review with new case report.

Neurologia i neurochirurgia polska
2022

UQCRC1 variants in early-onset and familial Parkinson's disease in a Taiwanese cohort.

Frontiers in neurology
2023

Multiple neurological effects associated with exposure to organophosphorus pesticides in man.

Toxicology
2023

Movement disorders in hereditary spastic paraplegia (HSP): a systematic review and individual participant data meta-analysis.

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

Autophagic lysosome reformation in health and disease.

Autophagy
2023

The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.

Brain : a journal of neurology
2023

Novel RAB39B mutation (c.309G > A)-related spastic paraparasis: case report.

Acta neurologica Belgica
2022

Investigating KIF1A mutations in a Taiwanese cohort with hereditary spastic paraplegia.

Parkinsonism &amp; related disorders
2022

Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.

Movement disorders : official journal of the Movement Disorder Society
2022

Specific Gait Changes in Prodromal Hereditary Spastic Paraplegia Type 4: preSPG4 Study.

Movement disorders : official journal of the Movement Disorder Society
2022

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.

Genetics in medicine : official journal of the American College of Medical Genetics
2022

The 2022 Lady Estelle Wolfson lectureship on neurofilaments.

Journal of neurochemistry
2022

Long-term efficacy of bilateral subthalamic deep brain stimulation in the parkinsonism of SCA 3: A rare case report.

European journal of neurology
2022

Movement disorders and neuropathies: overlaps and mimics in clinical practice.

Journal of neurology
2022

Irisin Serum Levels and Skeletal Muscle Assessment in a Cohort of Charcot-Marie-Tooth Patients.

Frontiers in endocrinology
2022

SPG11 presenting with dystonic tremor in childhood.

Parkinsonism &amp; related disorders
2023

Clinical and Genetic Aspects of Childhood-Onset Demyelinating Charcot-Marie-Tooth's Disease in Brazil.

Journal of pediatric genetics
2022

Genetic, structural and clinical analysis of spastic paraplegia 4.

Parkinsonism &amp; related disorders
2022

Clinical advances of RNA therapeutics for treatment of neurological and neuromuscular diseases.

RNA biology
2022

Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.

Neurology. Genetics
2022

Mitochondrial Phenotypes in Genetically Diverse Neurodegenerative Diseases and Their Response to Mitofusin Activation.

Cells
2022

Predicting Mitochondrial Dynamic Behavior in Genetically Defined Neurodegenerative Diseases.

Cells
2022

New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49).

Brain communications
2021

Case Report: Yellow Fever Vaccine-Associated Neurotropic Disease and Associated MRI, EEG, and CSF Findings.

Frontiers in neurology
2022

Increased trunk movements in people with hereditary spastic paraplegia: do these involve balance correcting strategies?

Journal of neurology
2022

DNAJB2-related Charcot-Marie-Tooth disease type 2: Pathomechanism insights and phenotypic spectrum widening.

European journal of neurology
2022

Neurological symptoms and disorders following electrical injury: A register-based matched cohort study.

PloS one
2022

Assessing the NOTCH2NLC GGC repeat expansion in Taiwanese patients with hereditary spastic paraplegia.

Parkinsonism &amp; related disorders
2022

De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.

Movement disorders : official journal of the Movement Disorder Society
2022

The role of NOTCH2NLC in Parkinson's disease: A clinical, neuroimaging, and pathological study.

European journal of neurology
2022

A Clinical and Integrated Genetic Study of Isolated and Combined Dystonia in Taiwan.

The Journal of molecular diagnostics : JMD
2022

The second family affected with a PRDM8-related disease.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2021

Chronic Inflammatory Demyelinating Polyneuropathy after ChAdOx1 nCoV-19 Vaccination.

Vaccines
2021

NAD+ Metabolism and Diseases with Motor Dysfunction.

Genes
2022

Guillain-Barré syndrome following the first dose of Pfizer-BioNTech COVID-19 vaccine: case report and review of reported cases.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2021

Polyneuropathy monitoring in Parkinson's disease patients treated with levodopa/carbidopa intestinal gel.

Brain and behavior
2021

Direct and Indirect Neurological Signs of COVID-19.

Neuroscience and behavioral physiology
2022

History of Ataxias and Paraplegias with an Annotation on the First Description of Striatonigral Degeneration.

Cerebellum (London, England)
2021

Socio-Economic Disparities in Access to Diagnostic Neuroimaging Services in the United Kingdom: A Systematic Review.

International journal of environmental research and public health
2022

Orthostatic myoclonus - A retrospective study of Asian patients.

Journal of the Formosan Medical Association = Taiwan yi zhi
2021

Investigating ABCD1 mutations in a Taiwanese cohort with hereditary spastic paraplegia phenotype.

Parkinsonism &amp; related disorders
2021

Early Onset Degenerative Parkinsonism - Consider SPG7 Mutation.

Neurology India
2022

Anticipation in Genetic Diseases: Moving Beyond Nucleotide Repeat Disorders.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
2021

Clinical Reasoning: A Middle-aged Man With Progressive Gait Abnormalities.

Neurology
2021

Identifying the Effects of Reactive Oxygen Species on Mitochondrial Dynamics and Cytoskeleton Stability in Dictyostelium discoideum.

Cells
2021

The m.3890G>A/MT-ND1 mtDNA rare pathogenic variant: Expanding clinical and MRI phenotypes.

Mitochondrion
2021

The Impact of the COVID-19 Lockdown on the Quality of Life in Chronic Neurological Diseases: The Results of a COVQoL-CND Study.

European neurology
2021

C19orf12 mutation causing mitochondrial membrane-protein Associated Neurodegeneration masquerading as spastic paraplegia.

Parkinsonism &amp; related disorders
2022

Higher incidence of cervical spinal cord compression in amyotrophic lateral sclerosis: a single-institute cohort study.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2021

Prevalence and Characteristics of Polyneuropathy in Atypical Parkinsonian Syndromes: An Explorative Study.

Brain sciences
2021

Transactivation response DNA-binding protein of 43 kDa proteinopathy and lysosomal abnormalities in spastic paraplegia type 11.

Neuropathology : official journal of the Japanese Society of Neuropathology
2021

Clinical and genetic characterization of hereditary spastic paraplegia type 3A in Taiwan.

Parkinsonism &amp; related disorders
2021

Fludrocortisone for orthostatic hypotension.

The Cochrane database of systematic reviews
2021

Lighthouse in the open sea of spastic ataxia; what are the features that should not be missed in SPG11?

Parkinsonism &amp; related disorders
2021

The case of a 51-year-old man with 15 years of progressive leg spasticity.

Annals of clinical and translational neurology
2021

A novel homozygous mutation in ATP13A2 gene causing pure hereditary spastic paraplegia.

Parkinsonism &amp; related disorders
2021

Neurofilament light chain is a cerebrospinal fluid biomarker in hereditary spastic paraplegia.

Annals of clinical and translational neurology
2021

GCH1 mutations in hereditary spastic paraplegia.

Clinical genetics
2021

Paroxysmal, exercise-induced, diurnally fluctuating dystonia: Expanding the phenotype of SPG8.

Parkinsonism &amp; related disorders
2021

Evidence for Non-Mendelian Inheritance in Spastic Paraplegia 7.

Movement disorders : official journal of the Movement Disorder Society
2021

Randomized Trial of Botulinum Toxin Type A in Hereditary Spastic Paraplegia - The SPASTOX Trial.

Movement disorders : official journal of the Movement Disorder Society
2021

Brain Damage and Gene Expression Across Hereditary Spastic Paraplegia Subtypes.

Movement disorders : official journal of the Movement Disorder Society
2021

A follow-up study on restless legs syndrome in chronic obstructive pulmonary disease population.

Sleep medicine
2021

Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare Disease.

Movement disorders : official journal of the Movement Disorder Society
2021

Premotor Parkinson's disease: Overview of clinical symptoms and current diagnostic methods.

Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia
2021

Viral infections and their relationship to neurological disorders.

Archives of virology
2021

Acute motor axonal polyneuropathy in one parkinsonian patient receiving moderate dosage of oral levodopa.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2021

Improving gait adaptability in patients with hereditary spastic paraplegia (Move-HSP): study protocol for a randomized controlled trial.

Trials
2021

Spinal cord stimulation improves motor function and gait in spastic paraplegia type 4 (SPG4): Clinical and neurophysiological evaluation.

Parkinsonism &amp; related disorders
2020

[Direct and indirect neurological manifestations of COVID-19].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2020

Mitochondria and Parkinson's disease: a complex (III) liaison.

Brain : a journal of neurology
2020

Clinical presentation and immunological features of Post-Malaria Neurologic Syndrome: a case report and review of literature.

Malaria journal
2021

SPG46 due to truncating mutations in GBA2: Two cases from India.

Parkinsonism &amp; related disorders
2021

RNF170-Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation.

Movement disorders : official journal of the Movement Disorder Society
2020

''Eye of tiger sign" mimic in patients with spastic paraplegia gene 7 (SPG7) mutations.

Parkinsonism &amp; related disorders
2020

Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy.

Brain : a journal of neurology
2020

Precision Medicine in Neurology: The Inspirational Paradigm of Complement Therapeutics.

Pharmaceuticals (Basel, Switzerland)
2022

Charcot-Marie-Tooth disease type 4J with spastic quadriplegia, epilepsy and global developmental delay: a tale of three siblings.

The International journal of neuroscience
2020

Generation of a human induced pluripotent stem cell (iPSC) line (IBMS-iPSC-057-05) from a patient with familial parkinsonism and polyneuropathy having a heterozygous p.Y314S mutation in UQCRC1 gene.

Stem cell research
2020

Update on Neurological Manifestations of SARS-CoV-2.

The western journal of emergency medicine
2020

Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia.

Parkinsonism &amp; related disorders
2020

Sensory Neuropathy in Parkinson Disease: Electrodiagnostic Evaluation.

The Neurodiagnostic journal
2021

[Neurological complications of hepatitis C infections].

Der Nervenarzt
2020

A hereditary spastic paraplegia predominant phenotype caused by variants in the NEFL gene.

Parkinsonism &amp; related disorders
2020

Homozygosity mapping and next generation sequencing for the genetic diagnosis of hereditary ataxia and spastic paraplegia in consanguineous families.

Parkinsonism &amp; related disorders
2020

Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications.

Parkinsonism &amp; related disorders
2020

Correlates of polyneuropathy in Parkinson's disease.

Annals of clinical and translational neurology
2020

Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project.

European journal of human genetics : EJHG
2021

Deep geno- and phenotyping in two consanguineous families with CMT2 reveals HADHA as an unusual disease-causing gene and an intronic variant in GDAP1 as an unusual mutation.

Journal of neurology
2020

Understanding the Immunologic Characteristics of Neurologic Manifestations of SARS-CoV-2 and Potential Immunological Mechanisms.

Molecular neurobiology
2020

Parkin Pleiotropy: Extremely Atypical Phenotypes in Patients With Compound Heterozygous Mutations.

Tremor and other hyperkinetic movements (New York, N.Y.)
2020

Neurological letter from Bangladesh.

Practical neurology
2020

RTN2-gene associated spastic paraplegia in an indian patient with anterior horn cell involvement.

Parkinsonism &amp; related disorders
2020

Levodopa-Carbidopa Intestinal Gel Infusion Therapy Discontinuation: A Ten-Year Retrospective Analysis of 204 Treated Patients.

Neuropsychiatric disease and treatment
2021

Neurological and Neuropsychiatric Impacts of COVID-19 Pandemic.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
2021

Lentiform fork sign in a patient with systemic lupus erythematosus.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2020

COVID-19 reveals influence of physical activity on symptom severity in hereditary spastic paraplegia.

Journal of neurology
2020

Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.

Parkinsonism &amp; related disorders
2020

Bi-allelic variants in PNPLA6 possibly associated with Parkinsonian features in addition to spastic paraplegia phenotype.

Journal of neurology
2020

Maximizing placebo response in neurological clinical practice.

International review of neurobiology
2020

Tumors masquerading as neurological diseases: A caution for clinicians in planning diagnosis and treatment.

Neurology India
2020

Scoping review of prevalence of neurologic comorbidities in patients hospitalized for COVID-19.

Neurology
2020

Long-term effectiveness of levodopa-carbidopa intestinal gel on motor and non-motor symptoms in advanced Parkinson's disease: results of the Italian GLORIA patient population.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2020

Small heat shock proteins in neurodegenerative diseases.

Cell stress &amp; chaperones
2020

Family Game Show-style Didactic for Teaching Nervous System Disorders during Emergency Medicine Training.

Journal of education &amp; teaching in emergency medicine
2020

The Bruton tyrosine kinase inhibitor ibrutinib improves anti-MAG antibody polyneuropathy.

Neurology(R) neuroimmunology &amp; neuroinflammation
2020

FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome.

Parkinsonism &amp; related disorders
2020

Safety of Levodopa-Carbidopa Intestinal Gel Treatment in Patients with Advanced Parkinson's Disease Receiving ≥2000 mg Daily Dose of Levodopa.

Parkinson's disease
2020

Association Between Neurological Disorders and Death by Suicide in Denmark.

JAMA
2020

Mutation analysis of CAPN1 in Chinese populations with spastic paraplegia and related neurodegenerative diseases.

Journal of the neurological sciences
2020

Small fiber neuropathy in unexpected clinical settings: a review.

Muscle &amp; nerve
2020

Prevalence and factors related to orthostatic syndromes in recently diagnosed, drug-naïve patients with Parkinson disease.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2019

Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion.

Movement disorders : official journal of the Movement Disorder Society
2020

An overview of pain in Parkinson's disease.

Clinical parkinsonism &amp; related disorders
2019

Chronic neurological disorders and related comorbidities: Role of age-associated physiological changes.

Handbook of clinical neurology
2019

Novel mutations in the SPAST gene cause hereditary spastic paraplegia.

Parkinsonism &amp; related disorders

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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. Longitudinal Evaluation of Polyneuropathy in Atypical Parkinsonian Syndromes.
    Neurology international· 2026· PMID 41745712mais citado
  2. Pearls &amp; Oy-sters: Hereditary Spastic Paraplegia Type 15 Presenting as Juvenile Onset Levodopa-Responsive Parkinsonism.
    Neurology· 2026· PMID 41505685mais citado
  3. DISTRICTS trial: enhancing carpal tunnel syndrome treatment - Authors' reply.
    Lancet (London, England)· 2026· PMID 41519594mais citado
  4. Corneal confocal microscopy as a paraclinical test in neurodegenerative disease: a scoping review.
    The British journal of ophthalmology· 2026· PMID 41605610mais citado
  5. Serum NfL, but not GFAP, differentiates primary lateral sclerosis from adrenomyeloneuropathy and hereditary spastic paraplegia type 4.
    Amyotrophic lateral sclerosis &amp; frontotemporal degeneration· 2026· PMID 40961460mais citado
  6. Dissecting genetic variant contributions to neurodegenerative disorders through targeted gene sequencing in a Sicilian population.
    Sci Rep· 2026· PMID 41957096recente
  7. Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.
    J Inherit Metab Dis· 2026· PMID 41872043recente
  8. Striatal Dopamine Transporter and Rest Tremor in Parkinson Disease: A Clinical Validation.
    Neurology· 2026· PMID 41855450recente
  9. POLG-Related Parkinsonism with Good Response to Deep Brain Stimulation.
    Mov Disord Clin Pract· 2026· PMID 41850899recente
  10. Motor Neuron Disease with Guillain-Barré Syndrome? Motor Band Sign with Anti-GQ1b Antibodies.
    Diagnostics (Basel)· 2026· PMID 41827952recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:611237(Orphanet)
  2. OMIM OMIM:619279(OMIM)
  3. MONDO:0036193(MONDO)
  4. GARD:18028(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q122933190(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

Parkinsonismo com polineuropatia
Compêndio · Raras BR

Parkinsonismo com polineuropatia

ORPHA:611237 · MONDO:0036193
Prevalência
<1 / 1 000 000
Casos
4 casos conhecidos
CID-10
G20 · Doença de Parkinson
Início
Adult
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C5543299
Testes
54 disponíveis
Repurposing
2 candidatos
procyclidineacetylcholine receptor antagonist
trihexyphenidyl
EuropePMC
Wikidata
Evidência
🥉 Relato de caso
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