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.
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.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 8 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 14 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição.
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
Mitochondrion inner membrane
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.
Variantes genéticas (ClinVar)
19 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 12 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
2 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Parkinsonismo com polineuropatia
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
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Outros ensaios clínicos
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Publicações mais relevantes
Longitudinal Evaluation of Polyneuropathy in Atypical Parkinsonian Syndromes.
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.
Pearls & Oy-sters: Hereditary Spastic Paraplegia Type 15 Presenting as Juvenile Onset Levodopa-Responsive Parkinsonism.
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.
DISTRICTS trial: enhancing carpal tunnel syndrome treatment - Authors' reply.
Corneal confocal microscopy as a paraclinical test in neurodegenerative disease: a scoping review.
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.
Serum NfL, but not GFAP, differentiates primary lateral sclerosis from adrenomyeloneuropathy and hereditary spastic paraplegia type 4.
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.
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Acute Inflammatory Demyelinating Polyradiculoneuropathy-like Associated with Subcutaneous Foslevodopa-Foscarbidopa: First Report.
Movement disorders : official journal of the Movement Disorder SocietyLongitudinal Evaluation of Polyneuropathy in Atypical Parkinsonian Syndromes.
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The British journal of ophthalmologyDISTRICTS trial: enhancing carpal tunnel syndrome treatment - Authors' reply.
Lancet (London, England)Pearls & Oy-sters: Hereditary Spastic Paraplegia Type 15 Presenting as Juvenile Onset Levodopa-Responsive Parkinsonism.
NeurologyElectrophysiological and biochemical evaluations of neuropathy risk in oral levodopa versus levodopa/carbidopa intestinal gel treatment.
Arquivos de neuro-psiquiatriaPhenotypic spectrum of variants in the FIG4 gene: variants associated with Charcot-Marie-Tooth 4J and parkinsonism.
European journal of medical geneticsIdiopathic polyneuropathy with neurogenic autonomic failure - an early manifestation of Lewy body disease? a case report.
BMC neurologyPolyneuropathy in Parkinson's disease and atypical Parkinsonian syndromes: clinical impact and risk factors.
Journal of neural transmission (Vienna, Austria : 1996)Ocular Surface Changes Associated with Neurological Diseases.
Medicina (Kaunas, Lithuania)Clinical Reasoning: A 58-Year-Old Man With Resting Tremor, Bradykinesia, and Distal Numbness.
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Parkinsonism & related disordersSpastic Ataxia Composite (SPAXCOM): A Scale to Evaluate the Progression of Subjects with Spasticity and Ataxia.
Movement disorders : official journal of the Movement Disorder SocietyComorbid pathologies and their impact on progressive supranuclear palsy: current view.
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Clinical therapeuticsNeurotoxicity and Rare Adverse Events in BCMA-Directed CAR T Cell Therapy: A Comprehensive Analysis of Real-World FAERS Data.
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Annals of Indian Academy of NeurologyPolyneuropathy and levodopa therapy in Parkinson's Disease: an evolving clinical challenge.
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Movement disorders : official journal of the Movement Disorder SocietyAcute polyneuropathy: a serious complication of levodopa/ /carbidopa intestinal gel treatment for Parkinson's Disease.
Neurologia i neurochirurgia polskaA Homoplasmic MT-TV Mutation Associated with Mitochondrial Inheritance of Hereditary Spastic Paraplegia.
Movement disorders : official journal of the Movement Disorder SocietyLarge-fiber neuropathy in Parkinson's disease: a narrative review.
Neurological research and practiceFIG4-Related Parkinsonism and the Particularities of the I41T Mutation: A Review of the Literature.
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Advances in clinical chemistryLongitudinal evaluation of polyneuropathy in Parkinson's disease.
Journal of neurology[Influence of neurological diseases on mobility and ability to drive].
Bundesgesundheitsblatt, Gesundheitsforschung, GesundheitsschutzMRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study.
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Journal of neural transmission (Vienna, Austria : 1996)Association between cytomegalovirus infection and neurological disorders: A systematic review.
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Journal of neurologyExamining the National Representativeness of the Axon Registry: A Neurology-Specific Patient Registry.
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Movement disorders : official journal of the Movement Disorder SocietyBefore blaming levodopa/carbidopa intestinal gel for demyelinating polyneuropathy, all differential aetiologies must be ruled out.
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Movement disorders : official journal of the Movement Disorder SocietyEpidemiology of small intestinal bacterial overgrowth.
World journal of gastroenterologyMagnetic resonance neurography and diffusion tensor imaging of the sciatic nerve in hereditary transthyretin amyloidosis polyneuropathy.
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BMC neurologyA systematic review of the potential consequences of abnormal serum levels of vitamin B6 in people living with Parkinson's disease.
Journal of the neurological sciencesOral Levodopa, Vitamin B6, and Polyneuropathy: A Case Series.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiquesData-driven subtyping of Parkinson's disease: comparison of current methodologies and application to the Bochum PNS cohort.
Journal of neural transmission (Vienna, Austria : 1996)The value of electrochemical skin conductance measurement by Sudoscan® for assessing autonomic dysfunction in peripheral neuropathies beyond diabetes.
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Annals of Indian Academy of NeurologyEarly-onset parkinsonism and hereditary spastic paraplegia type 7: pearls and pitfalls.
Parkinsonism & related disordersVagal cross-sectional area correlates with parasympathetic dysfunction in Parkinson's disease.
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Neurologia i neurochirurgia polskaUQCRC1 variants in early-onset and familial Parkinson's disease in a Taiwanese cohort.
Frontiers in neurologyMultiple neurological effects associated with exposure to organophosphorus pesticides in man.
ToxicologyMovement 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 NeurophysiologyAutophagic lysosome reformation in health and disease.
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Acta neurologica BelgicaInvestigating KIF1A mutations in a Taiwanese cohort with hereditary spastic paraplegia.
Parkinsonism & related disordersEarly-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.
Movement disorders : official journal of the Movement Disorder SocietySpecific Gait Changes in Prodromal Hereditary Spastic Paraplegia Type 4: preSPG4 Study.
Movement disorders : official journal of the Movement Disorder SocietyHeterozygous 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 GeneticsThe 2022 Lady Estelle Wolfson lectureship on neurofilaments.
Journal of neurochemistryLong-term efficacy of bilateral subthalamic deep brain stimulation in the parkinsonism of SCA 3: A rare case report.
European journal of neurologyMovement disorders and neuropathies: overlaps and mimics in clinical practice.
Journal of neurologyIrisin Serum Levels and Skeletal Muscle Assessment in a Cohort of Charcot-Marie-Tooth Patients.
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Parkinsonism & related disordersClinical and Genetic Aspects of Childhood-Onset Demyelinating Charcot-Marie-Tooth's Disease in Brazil.
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CellsPredicting Mitochondrial Dynamic Behavior in Genetically Defined Neurodegenerative Diseases.
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Brain communicationsCase Report: Yellow Fever Vaccine-Associated Neurotropic Disease and Associated MRI, EEG, and CSF Findings.
Frontiers in neurologyIncreased trunk movements in people with hereditary spastic paraplegia: do these involve balance correcting strategies?
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European journal of neurologyNeurological symptoms and disorders following electrical injury: A register-based matched cohort study.
PloS oneAssessing the NOTCH2NLC GGC repeat expansion in Taiwanese patients with hereditary spastic paraplegia.
Parkinsonism & related disordersDe Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Movement disorders : official journal of the Movement Disorder SocietyThe role of NOTCH2NLC in Parkinson's disease: A clinical, neuroimaging, and pathological study.
European journal of neurologyA Clinical and Integrated Genetic Study of Isolated and Combined Dystonia in Taiwan.
The Journal of molecular diagnostics : JMDThe second family affected with a PRDM8-related disease.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyChronic Inflammatory Demyelinating Polyneuropathy after ChAdOx1 nCoV-19 Vaccination.
VaccinesNAD+ Metabolism and Diseases with Motor Dysfunction.
GenesGuillain-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 NeurophysiologyPolyneuropathy monitoring in Parkinson's disease patients treated with levodopa/carbidopa intestinal gel.
Brain and behaviorDirect and Indirect Neurological Signs of COVID-19.
Neuroscience and behavioral physiologyHistory of Ataxias and Paraplegias with an Annotation on the First Description of Striatonigral Degeneration.
Cerebellum (London, England)Socio-Economic Disparities in Access to Diagnostic Neuroimaging Services in the United Kingdom: A Systematic Review.
International journal of environmental research and public healthOrthostatic myoclonus - A retrospective study of Asian patients.
Journal of the Formosan Medical Association = Taiwan yi zhiInvestigating ABCD1 mutations in a Taiwanese cohort with hereditary spastic paraplegia phenotype.
Parkinsonism & related disordersEarly Onset Degenerative Parkinsonism - Consider SPG7 Mutation.
Neurology IndiaAnticipation in Genetic Diseases: Moving Beyond Nucleotide Repeat Disorders.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiquesClinical Reasoning: A Middle-aged Man With Progressive Gait Abnormalities.
NeurologyIdentifying the Effects of Reactive Oxygen Species on Mitochondrial Dynamics and Cytoskeleton Stability in Dictyostelium discoideum.
CellsThe m.3890G>A/MT-ND1 mtDNA rare pathogenic variant: Expanding clinical and MRI phenotypes.
MitochondrionThe Impact of the COVID-19 Lockdown on the Quality of Life in Chronic Neurological Diseases: The Results of a COVQoL-CND Study.
European neurologyC19orf12 mutation causing mitochondrial membrane-protein Associated Neurodegeneration masquerading as spastic paraplegia.
Parkinsonism & related disordersHigher 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 NeurophysiologyPrevalence and Characteristics of Polyneuropathy in Atypical Parkinsonian Syndromes: An Explorative Study.
Brain sciencesTransactivation response DNA-binding protein of 43 kDa proteinopathy and lysosomal abnormalities in spastic paraplegia type 11.
Neuropathology : official journal of the Japanese Society of NeuropathologyClinical and genetic characterization of hereditary spastic paraplegia type 3A in Taiwan.
Parkinsonism & related disordersFludrocortisone for orthostatic hypotension.
The Cochrane database of systematic reviewsLighthouse in the open sea of spastic ataxia; what are the features that should not be missed in SPG11?
Parkinsonism & related disordersThe case of a 51-year-old man with 15 years of progressive leg spasticity.
Annals of clinical and translational neurologyA novel homozygous mutation in ATP13A2 gene causing pure hereditary spastic paraplegia.
Parkinsonism & related disordersNeurofilament light chain is a cerebrospinal fluid biomarker in hereditary spastic paraplegia.
Annals of clinical and translational neurologyGCH1 mutations in hereditary spastic paraplegia.
Clinical geneticsParoxysmal, exercise-induced, diurnally fluctuating dystonia: Expanding the phenotype of SPG8.
Parkinsonism & related disordersEvidence for Non-Mendelian Inheritance in Spastic Paraplegia 7.
Movement disorders : official journal of the Movement Disorder SocietyRandomized Trial of Botulinum Toxin Type A in Hereditary Spastic Paraplegia - The SPASTOX Trial.
Movement disorders : official journal of the Movement Disorder SocietyBrain Damage and Gene Expression Across Hereditary Spastic Paraplegia Subtypes.
Movement disorders : official journal of the Movement Disorder SocietyA follow-up study on restless legs syndrome in chronic obstructive pulmonary disease population.
Sleep medicineExpanding 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 SocietyPremotor Parkinson's disease: Overview of clinical symptoms and current diagnostic methods.
Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, CzechoslovakiaViral infections and their relationship to neurological disorders.
Archives of virologyAcute 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 NeurophysiologyImproving gait adaptability in patients with hereditary spastic paraplegia (Move-HSP): study protocol for a randomized controlled trial.
TrialsSpinal cord stimulation improves motor function and gait in spastic paraplegia type 4 (SPG4): Clinical and neurophysiological evaluation.
Parkinsonism & related disorders[Direct and indirect neurological manifestations of COVID-19].
Zhurnal nevrologii i psikhiatrii imeni S.S. KorsakovaMitochondria and Parkinson's disease: a complex (III) liaison.
Brain : a journal of neurologyClinical presentation and immunological features of Post-Malaria Neurologic Syndrome: a case report and review of literature.
Malaria journalSPG46 due to truncating mutations in GBA2: Two cases from India.
Parkinsonism & related disordersRNF170-Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation.
Movement disorders : official journal of the Movement Disorder Society''Eye of tiger sign" mimic in patients with spastic paraplegia gene 7 (SPG7) mutations.
Parkinsonism & related disordersMitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy.
Brain : a journal of neurologyPrecision Medicine in Neurology: The Inspirational Paradigm of Complement Therapeutics.
Pharmaceuticals (Basel, Switzerland)Charcot-Marie-Tooth disease type 4J with spastic quadriplegia, epilepsy and global developmental delay: a tale of three siblings.
The International journal of neuroscienceGeneration 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 researchUpdate on Neurological Manifestations of SARS-CoV-2.
The western journal of emergency medicineIntermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia.
Parkinsonism & related disordersSensory Neuropathy in Parkinson Disease: Electrodiagnostic Evaluation.
The Neurodiagnostic journal[Neurological complications of hepatitis C infections].
Der NervenarztA hereditary spastic paraplegia predominant phenotype caused by variants in the NEFL gene.
Parkinsonism & related disordersHomozygosity mapping and next generation sequencing for the genetic diagnosis of hereditary ataxia and spastic paraplegia in consanguineous families.
Parkinsonism & related disordersClarification of undiagnosed ataxia using whole-exome sequencing with clinical implications.
Parkinsonism & related disordersCorrelates of polyneuropathy in Parkinson's disease.
Annals of clinical and translational neurologyIdentification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project.
European journal of human genetics : EJHGDeep 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 neurologyUnderstanding the Immunologic Characteristics of Neurologic Manifestations of SARS-CoV-2 and Potential Immunological Mechanisms.
Molecular neurobiologyParkin Pleiotropy: Extremely Atypical Phenotypes in Patients With Compound Heterozygous Mutations.
Tremor and other hyperkinetic movements (New York, N.Y.)Neurological letter from Bangladesh.
Practical neurologyRTN2-gene associated spastic paraplegia in an indian patient with anterior horn cell involvement.
Parkinsonism & related disordersLevodopa-Carbidopa Intestinal Gel Infusion Therapy Discontinuation: A Ten-Year Retrospective Analysis of 204 Treated Patients.
Neuropsychiatric disease and treatmentNeurological and Neuropsychiatric Impacts of COVID-19 Pandemic.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiquesLentiform 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 NeurophysiologyCOVID-19 reveals influence of physical activity on symptom severity in hereditary spastic paraplegia.
Journal of neurologyRecessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.
Parkinsonism & related disordersBi-allelic variants in PNPLA6 possibly associated with Parkinsonian features in addition to spastic paraplegia phenotype.
Journal of neurologyMaximizing placebo response in neurological clinical practice.
International review of neurobiologyTumors masquerading as neurological diseases: A caution for clinicians in planning diagnosis and treatment.
Neurology IndiaScoping review of prevalence of neurologic comorbidities in patients hospitalized for COVID-19.
NeurologyLong-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 NeurophysiologySmall heat shock proteins in neurodegenerative diseases.
Cell stress & chaperonesFamily Game Show-style Didactic for Teaching Nervous System Disorders during Emergency Medicine Training.
Journal of education & teaching in emergency medicineThe Bruton tyrosine kinase inhibitor ibrutinib improves anti-MAG antibody polyneuropathy.
Neurology(R) neuroimmunology & neuroinflammationFIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome.
Parkinsonism & related disordersSafety of Levodopa-Carbidopa Intestinal Gel Treatment in Patients with Advanced Parkinson's Disease Receiving ≥2000 mg Daily Dose of Levodopa.
Parkinson's diseaseAssociation Between Neurological Disorders and Death by Suicide in Denmark.
JAMAMutation analysis of CAPN1 in Chinese populations with spastic paraplegia and related neurodegenerative diseases.
Journal of the neurological sciencesSmall fiber neuropathy in unexpected clinical settings: a review.
Muscle & nervePrevalence 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 SocietyMitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion.
Movement disorders : official journal of the Movement Disorder SocietyAn overview of pain in Parkinson's disease.
Clinical parkinsonism & related disordersChronic neurological disorders and related comorbidities: Role of age-associated physiological changes.
Handbook of clinical neurologyNovel mutations in the SPAST gene cause hereditary spastic paraplegia.
Parkinsonism & related disordersAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
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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.
- Longitudinal Evaluation of Polyneuropathy in Atypical Parkinsonian Syndromes.
- Pearls & Oy-sters: Hereditary Spastic Paraplegia Type 15 Presenting as Juvenile Onset Levodopa-Responsive Parkinsonism.
- DISTRICTS trial: enhancing carpal tunnel syndrome treatment - Authors' reply.
- Corneal confocal microscopy as a paraclinical test in neurodegenerative disease: a scoping review.
- Serum NfL, but not GFAP, differentiates primary lateral sclerosis from adrenomyeloneuropathy and hereditary spastic paraplegia type 4.
- Dissecting genetic variant contributions to neurodegenerative disorders through targeted gene sequencing in a Sicilian population.
- Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.
- Striatal Dopamine Transporter and Rest Tremor in Parkinson Disease: A Clinical Validation.
- POLG-Related Parkinsonism with Good Response to Deep Brain Stimulation.
- Motor Neuron Disease with Guillain-Barré Syndrome? Motor Band Sign with Anti-GQ1b Antibodies.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:611237(Orphanet)
- OMIM OMIM:619279(OMIM)
- MONDO:0036193(MONDO)
- GARD:18028(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- 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
