A ataxia espinocerebelar tipo 41 é uma doença neurológica rara e genética, transmitida de forma dominante (o que significa que basta receber um gene alterado de um dos pais para desenvolver a doença). Ela afeta o cerebelo e causa falta de coordenação (ataxia). A doença é caracterizada pelo início na idade adulta de uma perda progressiva do equilíbrio e da coordenação, levando a um jeito de andar instável e descoordenado. Exames de ressonância magnética do cérebro podem mostrar uma atrofia leve (redução do tamanho) do vérmis, uma parte do cerebelo.
Introdução
O que você precisa saber de cara
A ataxia espinocerebelar tipo 41 é uma doença neurológica rara e genética, transmitida de forma dominante (o que significa que basta receber um gene alterado de um dos pais para desenvolver a doença). Ela afeta o cerebelo e causa falta de coordenação (ataxia). A doença é caracterizada pelo início na idade adulta de uma perda progressiva do equilíbrio e da coordenação, levando a um jeito de andar instável e descoordenado. Exames de ressonância magnética do cérebro podem mostrar uma atrofia leve (redução do tamanho) do vérmis, uma parte do cerebelo.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 9 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. Padrão de herança: Autosomal dominant.
Forms a receptor-activated non-selective calcium permeant cation channel (PubMed:29726814, PubMed:30139744, PubMed:35051376, PubMed:9417057, PubMed:9930701, PubMed:10611319) Forms a receptor-activated non-selective calcium permeant cation channel. May be operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors
Cell membrane
Spinocerebellar ataxia 41
A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord.
Variantes genéticas (ClinVar)
31 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 10 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
5 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 — Ataxia espinocerebelosa tipo 41
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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
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Mostrando amostra de 86 publicações de um total de 3.160
Quantitative susceptibility mapping of dentate nucleus iron in SCA6 and SCA31: comparison with pathological findings.
Spinocerebellar ataxia type 6 (SCA6) and 31 (SCA31) exhibit similar clinical and radiological features and have traditionally been distinguishable only through genetic testing. We focused on iron deposition in the cerebellar dentate nucleus (DN) to differentiate these diseases, referencing corresponding pathological findings. Using quantitative susceptibility mapping (QSM), DN susceptibility was measured in 32 patients with SCA6, 31 with SCA31, and 37 controls, and the values were compared among groups. Correlations between susceptibility and disease duration or Scale for the Assessment and Rating of Ataxia (SARA) scores were also evaluated. In separate autopsy cases, Berlin blue and anti-ferritin immunostaining were performed on the DN in five SCA6 cases, one SCA31 case, and three controls. Susceptibility was significantly lower in patients with SCA6 than in those with SCA31 or controls. In SCA6, susceptibility inversely correlated with disease duration, whereas no such correlations were observed in SCA31. In contrast, no significant correlation was noted between susceptibility and SARA scores in either SCA6 or SCA31. Pathological findings showed absent ferritin staining in SCA6, strong staining in controls, and intermediate staining in SCA31. Berlin blue staining was negative in all groups. Reduced DN susceptibility in SCA6 reflects ferritin loss, distinguishing it from SCA31. Assessing DN susceptibility using QSM or SWI may provide useful imaging markers to complement the diagnosis of SCA6 and SCA31.
An R83W mutation in Rab3A causes autosomal-dominant cerebellar ataxia.
Spinocerebellar ataxias (SCAs) are a group of progressive neurodegenerative disorders caused by pathogenic variants in more than 40 genes with diverse cellular functions. In this study, we identified the c.247C > T p.(Arg83Trp) variant in RAB3A, encoding a small GTPase involved in membrane-associated regulated exocytosis, in two families with cerebellar ataxia. Affected individuals presented with adult-onset, gradually progressive cerebellar symptoms, often accompanied by mild gait spasticity and tremors. Variable features of neurodevelopmental disorders were also observed. Brain MRI consistently revealed cerebellar atrophy, often accentuated in the vermis, and neuropathological examinations demonstrated diffuse cerebellar cortical degeneration. Functionally, the R83W mutation lies within the conserved switch II region of Rab3A, a domain critical for effector interaction. Although the mutant Rab3A R83W retained GTP-binding affinity, it failed to bind the key effector proteins RIM1 and Rabphilin-3A, highlighting the functional importance of R83 in effector complex formation, as supported by structural analysis. In PC12 cells, the R83W mutant exhibited diffuse cytoplasmic localization, in contrast to the vesicle- and neurite-tip localization of the wild-type and GTP-bound Rab3A mutant. The concordant localization pattern of R83W and GDP-bound Rab3A mutants suggests that R83W-induced mislocalization results from a failure to engage downstream effector proteins. In the cerebellum, Rab3A was predominantly localized to parallel fiber terminals and was absent from postsynaptic Purkinje cells. These findings suggest that disruption of the interaction between Rab3A and its effector proteins may underlie disease pathogenesis, possibly involving presynaptic dysfunction at parallel fiber-Purkinje cell synapses mediated by the Rab3A-RIM1 complex.
Childhood-Onset Huntington's Disease-Like Presentation of SCA17 with Intermediate Repeats, A Case Report.
Objectives: In Spinocerebellar Ataxia type 17 (SCA17), penetrance is determined by repeat number of the CAG/CAA trinucleotide in the TATA-binding protein (TBP) gene. The intermediate range (41–48) exhibits only partial penetrance but may manifest a Huntington’s disease-like (HDL-4) syndrome with onset at age 50–60 years. We report a unique case of HDL-4 with childhood onset despite intermediate range repeats. Methods: This patient was evaluated at the University of Minnesota Movement Disorders Clinic. Standard Protocol Approvals, Registrations, and Patient Consents: Informed consent to disclose was obtained from the legal guardian of the subject of this report. Results: A 14-year-old male of Chinese descent presented with generalized dystonic and choreoathetoid movements since age 11 alongside motor delays, epilepsy, and speech, balance, and coordination dysfunction since infancy. Family history was limited given his adoptive status. Subsequent workup confirmed SCA17 with repeat numbers of 43 and 37 in the intermediate range. Discussion: This is the first case of intermediate range SCA17 of childhood-onset, emphasizing the evolving classification of intermediate vs. full penetrance while suggesting that the TBP repeat length may not be the sole determinant of disease onset and severity. It also highlights the importance of repeat expansion panels when investigating complex movement disorders.
A case report of spinocerebellar ataxia with TRPC3 gene mutation and review of literature.
Spinocerebellar ataxia type 41 (SCA41) is a rare autosomal dominant cerebellar ataxia caused by mutations in the transient receptor potential canonical 3 (TRPC3) gene. We report a case of a patient with SCA41 whose clinical manifestations were initially suspected to be multiple system atrophy cerebellar-type (MSA-C). Whole-exome sequencing (WES) revealed a c.1955A>G (p.K652R) mutation in the TRPC3 gene of this patient. After treatment with transcranial magnetic stimulation and rehabilitation training, the patient reported a slight improvement in unsteady gait compared with before. This is the first report of SCA41 caused by the c.1955A>G variant in the TRPC3 gene, which expands the mutation spectrum of the TRPC3 gene. Clinicians should have sufficient awareness of SCA41, as SCA and MSA-C share overlapping clinical phenotypes and imaging features, which may easily lead to misdiagnosis, and genetic testing plays a crucial role in differentiating between the two disorders.
Propranolol for Tremors in Spinocerebellar Ataxia Type 12: A Randomized Clinical Trial.
Spinocerebellar ataxia type 12 (SCA12) is a neurodegenerative disorder with prominent upper limb tremors. No trials have evaluated tremor-targeted therapies in this population. We evaluated long-acting propranolol for efficacy and safety in reducing tremors and improving ataxia and quality of life in SCA12. In this single-center, randomized, double-blind, placebo-controlled trial, 60 genetically confirmed SCA12 patients (aged 18-65 years; TETRAS PS [The Essential Tremor Rating Assessment Scale Performance Subscale] upper limb component ≥2) were randomized 1:1 to receive extended-release propranolol or placebo. Propranolol was escalated by 40 mg/week (placebo by one tablet/week) up to 240 mg/day, limiting side effects or ≥30% reduction in TETRAS PS/ADL (Activities-of-Daily-Living Subscale) + PS. The stable dose was continued for 8 weeks (maintenance phase). Primary outcomes were changes from baseline in TETRAS PS and ADL + PS at maintenance weeks 4 and 8. Secondary outcomes included changes in the Scale for the Assessment and Rating of Ataxia (SARA), RAND 36-Item Short-Form Health Survey (SF-36) domains, and accelerometric tremor parameters. Propranolol significantly reduced TETRAS PS (LSM ± SE: -4.4 ± 0.3 at week 4; -4.42 ± 0.4 at week 8) and ADL + PS (-5.5 ± 0.63 at week 4; -5.56 ± 0.62 at week 8; P < 0.001 vs. placebo). Significant improvements were also noted in SARA and five of nine SF-36 domains at both time points. Accelerometry confirmed reductions in tremor peak frequency and power in all positions except rest. Fatigue and headache were the commonest adverse effects, with no discontinuations due to adverse events. Propranolol effectively reduced tremors and improved quality of life in SCA12, with good tolerability. © 2025 International Parkinson and Movement Disorder Society.
Publicações recentes
Therapeutic targeting of blood-derived protein infiltration to modulate neuroinflammation in cerebellar ataxia.
Association Between Cerebellar Metabolic Markers and Activities of Daily Living in Patients With Spinocerebellar Ataxia Type 3.
Long term administration of selective NMDA GluN2B receptor blocker Ro25-6981 attenuates neurodegeneration in mouse model of spinocerebellar ataxia type 1 (SCA1).
Cell-Based Therapies for Spinocerebellar Degenerations: A Systematic Review of Human Clinical Evidence.
Comprehensive Review of Anesthetic Strategies for Patients With Neurodegenerative Diseases.
📚 EuropePMC3.032 artigos no totalmostrando 86
Childhood-Onset Huntington's Disease-Like Presentation of SCA17 with Intermediate Repeats, A Case Report.
Cerebellum (London, England)Quantitative susceptibility mapping of dentate nucleus iron in SCA6 and SCA31: comparison with pathological findings.
Journal of neurologyA case report of spinocerebellar ataxia with TRPC3 gene mutation and review of literature.
Journal of human geneticsAn R83W mutation in Rab3A causes autosomal-dominant cerebellar ataxia.
Human molecular geneticsChanges in Gait After Training for Individuals With Cerebellar Ataxia.
Archives of rehabilitation research and clinical translationPropranolol for Tremors in Spinocerebellar Ataxia Type 12: A Randomized Clinical Trial.
Movement disorders : official journal of the Movement Disorder SocietyArticle Title: Impact of Dysphagia on Quality of Life in Machado-Joseph Disease.
Cerebellum (London, England)Long-Term Effects of Annual Intensive Rehabilitation in Patients with Hereditary Pure Cerebellar Ataxia: A 7-year Follow-up Study.
Cerebellum (London, England)Spinocerebellar ataxia type 2 followed by amyotrophic lateral sclerosis due to a pure CAG repeat expansion in ATXN2: a case report and literature review.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyIsolated Generalized Chorea in a Patient with Small-Expanded Allele Spinocerebellar Ataxia 17.
Cerebellum (London, England)Machado-Joseph disease in Brazil and other South American countries: A systematic Review and Meta-analysis of Prevalence, CAG Repeat Lengths, Age At Onset, and Ancestry.
Cerebellum (London, England)Clinical Characteristics of Spinocerebellar Ataxia Type 3 in Uruguay.
Cerebellum (London, England)Altered Brain Iron Depositions of Spinocerebellar Ataxia Type 3: From Pre-Symptomatic to Symptomatic Stage.
European journal of neurologyMovement Disorders in Hereditary Cerebellar Ataxia.
Movement disorders clinical practiceNovel Intermediate ATXN10 Alleles in the Healthy Peruvian Population: A Matter of Indigenous American Ethnic Origin.
Cerebellum (London, England)Unveiling Spinocerebellar Ataxia 25: First Case Report of a Brazilian Family.
Cerebellum (London, England)The FGF14 GAA repeat expansion is a major cause of ataxia in the Cypriot population.
Brain communicationsDifferences in the Impact of Intensive Rehabilitation on Hereditary Ataxias and the Cerebellar Subtype of Multiple System Atrophy.
Cerebellum (London, England)Longitudinal Changes of Clinical, Imaging, and Fluid Biomarkers in Preataxic and Early Ataxic Spinocerebellar Ataxia Type 2 and 7 Carriers.
NeurologyWhole Exome Sequencing Indicating GGCCTG Hexanucleotide Repeat in Patients with Spinocerebellar Ataxia Type 36.
Neuro-degenerative diseasesPGT-M for spinocerebellar ataxia type 1: development of a STR panel and a report of two clinical cases.
Journal of assisted reproduction and geneticsGAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort.
EBioMedicineSpinocerebellar ataxia type 2 has multiple ancestral origins.
Parkinsonism & related disordersCognitive impairment associated with cerebellar volume loss in spinocerebellar ataxia type 3.
Journal of neurologyA Case of Coexistent Spinocerebellar Ataxia Type 2 and Primary Progressive Multiple Sclerosis-Coincidental or Associated?
Cerebellum (London, England)Neurocutaneous Syndromes, Perinatal Factors, and the Risk of Childhood Cancer in Sweden.
JAMA network openTemporal Relationship between Impairment of Cerebellar Motor Learning and Deterioration of Ataxia in Patients with Cerebellar Degeneration.
Cerebellum (London, England)Dopa-responsive dystonia in spinocerebellar ataxia 6: A case report.
Clinical neurology and neurosurgerySystematic assessment of plasma biomarkers in spinocerebellar ataxia.
Neurobiology of diseaseAllele-specific quantitation of ATXN3 and HTT transcripts in polyQ disease models.
BMC biologySpinocerebellar ataxia type 31: A clinical and radiological literature review.
Journal of the neurological sciencesSpinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient.
Acta neuropathologica communicationsGenotype-Phenotype Correlations for ATX-TBP (SCA17): MDSGene Systematic Review.
Movement disorders : official journal of the Movement Disorder SocietyMulti-omic profiling reveals the ataxia protein sacsin is required for integrin trafficking and synaptic organization.
Cell reportsTargeting RTN4/NoGo-Receptor reduces levels of ALS protein ataxin-2.
Cell reportsGenome-wide CRISPR screen reveals v-ATPase as a drug target to lower levels of ALS protein ataxin-2.
Cell reportsUnravelling the etiology of sporadic late-onset cerebellar ataxia in a cohort of 205 patients: a prospective study.
Journal of neurologyA novel compound heterozygous mutation in the COA7 gene responsible for a Chinese patient with spinocerebellar ataxia with axonal neuropathy type 3.
Clinical neuropathologyNetwork Reconfiguration Among Cerebellar Visual, and Motor Regions Affects Movement Function in Spinocerebellar Ataxia Type 3.
Frontiers in aging neuroscienceParticipation and Functional Independence in Adults With Recessive Spastic Ataxia of Charlevoix-Saguenay.
Canadian journal of occupational therapy. Revue canadienne d'ergotherapieHypothalamic Atrophy, Expanded CAG Repeat, and Low Body Mass Index in Spinocerebellar Ataxia Type 3.
Movement disorders : official journal of the Movement Disorder SocietyVocal cord paralysis as a presenting sign of autosomal recessive spinocerebellar atrophy type 10.
BMJ case reportsDigenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48.
Genetics in medicine : official journal of the American College of Medical GeneticsThe complexities of CACNA1A in clinical neurogenetics.
Journal of neurologyEffect of CAG repeats on the age at onset of patients with spinocerebellar ataxia type 2 in China.
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciencesSafety and Outcomes of Dentate Nucleus Deep Brain Stimulation for Cerebellar Ataxia.
Cerebellum (London, England)Exploring the clinical meaningfulness of the Scale for the Assessment and Rating of Ataxia: A comparison of patient and physician perspectives at the item level.
Parkinsonism & related disordersTreatment of infantile-onset spinal muscular atrophy with nusinersen: final report of a phase 2, open-label, multicentre, dose-escalation study.
The Lancet. Child & adolescent healthThe Electrophysiological Findings in Spinocerebellar Ataxia Type 6: Evidence From 24 Patients.
Journal of clinical neurophysiology : official publication of the American Electroencephalographic SocietySCA7 Mouse Cerebellar Pathology Reveals Preferential Downregulation of Key Purkinje Cell-Identity Genes and Shared Disease Signature with SCA1 and SCA2.
The Journal of neuroscience : the official journal of the Society for NeurosciencePhenotypic and molecular diversities of spinocerebellar ataxia type 2 in Japan.
Journal of neurologyAbnormal eye movements in spinocerebellar ataxia type 3.
BMC neurologyAbsent Foveal Avascular Zone in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyAntisense Oligonucleotide Therapy Targeted Against ATXN3 Improves Potassium Channel-Mediated Purkinje Neuron Dysfunction in Spinocerebellar Ataxia Type 3.
Cerebellum (London, England)Clinical features and genetic characteristics of homozygous spinocerebellar ataxia type 3.
Molecular genetics & genomic medicinePrevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort.
Neurology. GeneticsMechanisms of Regulation and Diverse Activities of Tau-Tubulin Kinase (TTBK) Isoforms.
Cellular and molecular neurobiologySpinocerebellar ataxia type 48: last but not least.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyVertical pons hyperintensity and hot cross bun sign in cerebellar-type multiple system atrophy and spinocerebellar ataxia type 3.
BMC neurologyHereditary Ataxias in Cuba: A Nationwide Epidemiological and Clinical Study in 1001 Patients.
Cerebellum (London, England)Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyGeneration of induced pluripotent stem cell line (ZZUi0014-A) from a patient with spinocerebellar ataxia type 3.
Stem cell researchThe influence of initial symptoms on phenotypes in spinocerebellar ataxia type 3.
Molecular genetics & genomic medicinePrevalence and clinicoradiological features of spinocerebellar ataxia type 34 in a Japanese ataxia cohort.
Parkinsonism & related disordersAdvance Care Plan and Factors Related to Disease Progression in Patients With Spinocerebellar Ataxia Type 1: A Cross-Sectional Study in Thailand.
The American journal of hospice & palliative careInfantile-onset spinocerebellar ataxia type 5 associated with a novel SPTBN2 mutation: A case report.
Brain & developmentGenetic analysis of undiagnosed ataxia-telangiectasia-like disorders.
Brain & developmentDystonia in Patients with Spinocerebellar Ataxia 3 - Machado-Joseph disease: An Underestimated Diagnosis?
The open neurology journalHistogram analysis of DTI-derived indices reveals pontocerebellar degeneration and its progression in SCA2.
PloS oneClinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37.
Brain : a journal of neurologyA diagnostic decision tree for adult cerebellar ataxia based on pontine magnetic resonance imaging.
Journal of the neurological sciencesClinical Characteristics and Etiology of Bilateral Vestibular Loss in a Cohort from Central Illinois.
Frontiers in neurologyThe progression rate of spinocerebellar ataxia type 2 changes with stage of disease.
Orphanet journal of rare diseasesRegulatory Role of RNA Chaperone TDP-43 for RNA Misfolding and Repeat-Associated Translation in SCA31.
NeuronGene dosage effect in spinocerebellar ataxia type 6 homozygotes: A clinical and neuropathological study.
Journal of the neurological sciencesIdentification of early neurodegenerative change in presymptomatic spinocerebellar ataxia type 1: A diffusion tensor imaging study.
Parkinsonism & related disordersPromoter Variation and Expression Levels of Inflammatory Genes IL1A, IL1B, IL6 and TNF in Blood of Spinocerebellar Ataxia Type 3 (SCA3) Patients.
Neuromolecular medicineTrinucleotide repeat expansion of TATA-binding protein gene associated with Parkinson's disease: A Thai multicenter study.
Parkinsonism & related disordersFatigue and Its Associated Factors in Spinocerebellar Ataxia Type 3/Machado-Joseph Disease.
Cerebellum (London, England)A patient with 41 CAG repeats in SCA17 presenting with parkinsonism and chorea.
Parkinsonism & related disordersAbnormalities in synaptic dynamics during development in a mouse model of spinocerebellar ataxia type 1.
Scientific reportsSCA 6 with Writer's Cramp: The Phenotype Expanded.
Movement disorders clinical practiceCentral auditory processing in patients with spinocerebellar ataxia.
Hearing researchStructural and functional MRI abnormalities of cerebellar cortex and nuclei in SCA3, SCA6 and Friedreich's ataxia.
Brain : a journal of neurologySporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.
Journal of neurologyThe role of the mammalian DNA end-processing enzyme polynucleotide kinase 3'-phosphatase in spinocerebellar ataxia type 3 pathogenesis.
PLoS geneticsAssociações
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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.
- Quantitative susceptibility mapping of dentate nucleus iron in SCA6 and SCA31: comparison with pathological findings.
- An R83W mutation in Rab3A causes autosomal-dominant cerebellar ataxia.
- Childhood-Onset Huntington's Disease-Like Presentation of SCA17 with Intermediate Repeats, A Case Report.
- A case report of spinocerebellar ataxia with TRPC3 gene mutation and review of literature.
- Propranolol for Tremors in Spinocerebellar Ataxia Type 12: A Randomized Clinical Trial.Movement disorders : official journal of the Movement Disorder Society· 2026· PMID 41261874mais citado
- Therapeutic targeting of blood-derived protein infiltration to modulate neuroinflammation in cerebellar ataxia.
- Association Between Cerebellar Metabolic Markers and Activities of Daily Living in Patients With Spinocerebellar Ataxia Type 3.
- Long term administration of selective NMDA GluN2B receptor blocker Ro25-6981 attenuates neurodegeneration in mouse model of spinocerebellar ataxia type 1 (SCA1).
- Cell-Based Therapies for Spinocerebellar Degenerations: A Systematic Review of Human Clinical Evidence.
- Comprehensive Review of Anesthetic Strategies for Patients With Neurodegenerative Diseases.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:458798(Orphanet)
- OMIM OMIM:616410(OMIM)
- MONDO:0014626(MONDO)
- GARD:17810(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55345896(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
