A Ataxia Espinocerebelar Tipo 6 (SCA6) é o subtipo mais comum da Ataxia Cerebelar Autossômica Dominante Tipo III (ADCA Tipo III), uma condição genética. Ela é caracterizada por surgir mais tarde na vida e progredir lentamente, causando dificuldade de coordenação ao andar e outros sinais que afetam o cerebelo, como problemas para coordenar os movimentos musculares e nistagmo (movimentos involuntários dos olhos).
Introdução
O que você precisa saber de cara
A Ataxia Espinocerebelar Tipo 6 (SCA6) é o subtipo mais comum da Ataxia Cerebelar Autossômica Dominante Tipo III (ADCA Tipo III), uma condição genética. Ela é caracterizada por surgir mais tarde na vida e progredir lentamente, causando dificuldade de coordenação ao andar e outros sinais que afetam o cerebelo, como problemas para coordenar os movimentos musculares e nistagmo (movimentos involuntários dos olhos).
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
Partes do corpo afetadas
+ 23 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 39 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.
Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1A gives rise to P and/or Q-type calcium currents. P/Q-type calcium channels belong to the 'high-voltage activated' (HVA) group and are specifically blocked by the spider omega-agatoxin-IVA
Cell membrane
Spinocerebellar ataxia 6
Spinocerebellar ataxia is 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. SCA6 is an autosomal dominant cerebellar ataxia (ADCA), mainly caused by expansion of a CAG repeat in the coding region of CACNA1A. There seems to be a correlation between the repeat number and earlier onset of the disorder.
Variantes genéticas (ClinVar)
1,521 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 149 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 — Ataxia espinocerebelosa, tipo 6
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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
Ensaios em destaque
🟢 Recrutando agora
2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
13 ensaios clínicos encontrados, 8 ativos.
Publicações mais relevantes
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.
Resilience to Endoplasmic Reticulum Stress Mitigates Membrane Hyperexcitability Underlying Late Disease Onset in a Murine Model of SCA6.
An enduring puzzle in many inherited neurological disorders is the late onset of symptoms despite expression of function-impairing mutant protein early in life. We examined the basis for onset of impairment in spinocerebellar ataxia type 6 (SCA6), a canonical late-onset neurodegenerative ataxia which results from a polyglutamine expansion in the voltage gated calcium channel, Cav2.1. We performed serial transcriptome analysis with weighted gene correlation network analysis to investigate mechanisms for resilience in SCA6 mice that prevent onset of symptoms. We examined changes in membrane excitability that result in cerebellar Purkinje neuron spiking abnormalities through patch-clamp recordings of Purkinje neurons in acute brain slices. Using unbiased transcriptome analysis, we identified endoplasmic reticulum (ER) stress as a driver of disease. Using spatial transcriptome analysis, we identified Purkinje neuron specific changes in unfolded protein response (UPR) related pathways. Novel activation of a store-operated calcium current due to ER stress is the cause for Purkinje neuron spiking abnormalities in SCA6 mice. The impairments in Purkinje neuron spiking are unrelated to Cav2.1 ion-flux function. Redundant pathways of the UPR act through a HSP90-dependent mechanism to mitigate this ER stress. Our studies support a model whereby proteotoxicity from misfolded mutant Cav2.1 is mitigated by a HSP90-dependent UPR, and age-related breakdown of this response causes motor dysfunction and aberrant Purkinje neuron spiking. These studies elucidate a mechanism of resilience connecting aberrant proteostasis and calcium-dependent intrinsic membrane hyperexcitability to explain delayed disease onset more widely in age-dependent neurodegenerative disease. ANN NEUROL 2026;99:502-522.
Spinocerebellar Ataxia Type 6 Initially Diagnosed as Alcoholic Cerebellar Degeneration: A Case Report.
Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant adult-onset neurodegenerative disorder. Cases may appear sporadic when the family history is uninformative or relatives' symptoms are unrecognized as disease-related. We herein report a 49-year-old male with no family history of ataxia but with excessive alcohol consumption, initially diagnosed with alcoholic cerebellar degeneration (ACD) and subsequently identified as having SCA6. Diagnosing ACD is difficult because reliable diagnostic markers and threshold levels of alcohol intake predicting cerebellar degeneration are lacking. Alternative diagnoses, including SCA6, should be considered when clinical or imaging findings are atypical and the family history is uninformative.
A diagnostic challenge: spinocerebellar ataxia type 6 presenting with dystonia and parkinsonism.
Spinocerebellar ataxias (SCA) are a group of hereditary cerebellar ataxias that are autosomal dominant. They often manifest as an adult-onset progressive neurodegenerative disease with predominantly cerebellar features of gait ataxia, nystagmus and dysarthria. SCA6 is a subtype of SCA which has been historically classified as 'pure cerebellar'. However, many patients may still present with non-cerebellar features. We present a woman in her 70s who was referred to a movement disorder clinic with rigidity, dystonia, upper limb contractures, dysarthria, ocular disturbance and muscle atrophy, with a strong family history of affected individuals. Whole exome sequencing identified 22 CAG repeats in the CACNA1A gene, in keeping with SCA6. A review of the literature identified a broader SCA6 phenotype, which can present with non-cerebellar features, and present a diagnostic challenge.
Redefining the Pathogenic CAG Repeat Units Threshold in CACNA1A for Spinocerebellar Ataxia Type 6.
Spinocerebellar ataxia type 6 (SCA6) is caused by expansion of CAG repeat units (RUs) in CACNA1A. While the pathologic threshold has been considered to be 20 or 21 RUs, the lower limit remains controversial. This study aimed to clarify the pathologic significance of RUs in SCA6, including the role of opposite alleles (OAs). This was an observational study of patients with suspected spinocerebellar ataxia who underwent SCA6 genetic testing. We analyzed the relationship between CACNA1A RUs and age at onset (AAO). Family history positivity rates were examined for different RUs of the expanded allele (EA). Regression analyses were performed for AAO estimation based on the EA RUs. The influence of OAs on AAO was investigated, particularly in cases with 21-22 EA RUs. In total, 2,768 participants were enrolled. Family history positivity rates increased progressively above 19 RUs and plateaued at ≥23 RUs. Regression analysis of cases with ≥23 RUs showed that 96.20% of cases with ≥23 RUs, 90.67% of cases with 22 RUs, 91.15% of cases with 21 RUs, 61.54% of cases with 20 RUs, and 33.33% of cases with 19 RUs fell within the 95% prediction interval for AAO. However, no patients with ≤18 RUs were included. In the 21-22 RU group, OAs significantly influenced AAO, and ≥17 RUs had a significant effect. For ≥23 RUs, no significant OA effect was observed. Cases with 19-20 RUs showed a higher prevalence of OA with ≥19 RUs compared with cases with ≥23 RUs. Our findings suggest that clinical manifestation within a typical lifespan likely requires at least 19 RUs. The 19-20 RU range represents an intermediate zone where OA may influence disease likelihood. For 21-22 RUs, OA significantly affects AAO, indicating a complex interplay between EA and OA. ≥23 RUs seem sufficient to cause disease onset within a typical lifespan, regardless of OA. These results provide a new paradigm for SCA6 diagnosis and genetic counseling, emphasizing the need for cautious interpretation of the intermediate RU range and consideration of OA.
Publicações recentes
Quantitative susceptibility mapping of dentate nucleus iron in SCA6 and SCA31: comparison with pathological findings.
🥇 Revisão sistemáticaSpinocerebellar Ataxia Type 6 Initially Diagnosed as Alcoholic Cerebellar Degeneration: A Case Report.
Commentary on the Flocculonodular Lobe as a Cerebellar Resilience Zone: Could Exercise Really be the Best Medicine?
📖 RevisãoResilience to Endoplasmic Reticulum Stress Mitigates Membrane Hyperexcitability Underlying Late Disease Onset in a Murine Model of SCA6.
📖 RevisãoStimulation of Purkinje cell firing reverses early onset spatial navigation deficits in a spinocerebellar ataxia type 6 mouse model.
📚 EuropePMC186 artigos no totalmostrando 122
Quantitative susceptibility mapping of dentate nucleus iron in SCA6 and SCA31: comparison with pathological findings.
Journal of neurologySpinocerebellar Ataxia Type 6 Initially Diagnosed as Alcoholic Cerebellar Degeneration: A Case Report.
Internal medicine (Tokyo, Japan)Commentary on the Flocculonodular Lobe as a Cerebellar Resilience Zone: Could Exercise Really be the Best Medicine?
Cerebellum (London, England)Resilience to Endoplasmic Reticulum Stress Mitigates Membrane Hyperexcitability Underlying Late Disease Onset in a Murine Model of SCA6.
Annals of neurologyStimulation of Purkinje cell firing reverses early onset spatial navigation deficits in a spinocerebellar ataxia type 6 mouse model.
Neurobiology of diseaseA diagnostic challenge: spinocerebellar ataxia type 6 presenting with dystonia and parkinsonism.
BMJ case reportsHomozygous CAG Repeat Expansion in Spinocerebellar Ataxia Type 6: Longitudinal Analysis of Vestibulo-Ocular Reflex Findings.
Cerebellum (London, England)Effects of Levetiracetam on Episodic Ataxia Type 2 and Spinocerebellar Ataxia Type 6 with Episodic Ataxic Symptoms: A Case Series.
GenesRedefining the Pathogenic CAG Repeat Units Threshold in CACNA1A for Spinocerebellar Ataxia Type 6.
Neurology. GeneticsResilience to Endoplasmic Reticulum Stress Mitigates Calcium-Dependent Membrane Hyperexcitability Underlying Late Disease Onset in SCA6.
bioRxiv : the preprint server for biologyL-arginine in patients with spinocerebellar ataxia type 6: a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial.
EClinicalMedicineQuantitative Oculomotor and Vestibular Profile in Spinocerebellar Ataxia Type 6 - Systematic Review and Meta-Analysis.
Cerebellum (London, England)Cerebellar type 1 metabotropic glutamate receptor availability decreases with disease progression in spinocerebellar ataxia type 6.
Journal of the neurological sciencesIntrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants in CACNA1A.
Frontiers in neurologyCACNA1A variant associated with generalized dystonia.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyDeveloping a pathway to clinical trials for CACNA1A-related epilepsies: A patient organization perspective.
Therapeutic advances in rare diseasePhenotypic analysis of ataxia in spinocerebellar ataxia type 6 mice using DeepLabCut.
Scientific reportsMitochondrial damage and impaired mitophagy contribute to disease progression in SCA6.
Acta neuropathologicaSubcellular localization and ER-mediated cytotoxic function of α1A and α1ACT in spinocerebellar ataxia type 6.
Biochemical and biophysical research communicationsMild Deficits in Fear Learning: Evidence from Humans and Mice with Cerebellar Cortical Degeneration.
eNeuroEndosomal dysfunction contributes to cerebellar deficits in spinocerebellar ataxia type 6.
eLifeSpinocerebellar Ataxia Type 6 and Japanese Immigration to Brazil.
Movement disorders clinical practiceDopa-responsive dystonia in spinocerebellar ataxia 6: A case report.
Clinical neurology and neurosurgeryAge-related differences of cerebellar cortex and nuclei: MRI findings in healthy controls and its application to spinocerebellar ataxia (SCA6) patients.
NeuroImageThe role of the basal ganglia and cerebellum in adaptation to others' speech rate and rhythm: A study of patients with Parkinson's disease and cerebellar degeneration.
Cortex; a journal devoted to the study of the nervous system and behaviorActivation of TrkB-Akt signaling rescues deficits in a mouse model of SCA6.
Science advancesLoss of Flocculus Purkinje Cell Firing Precision Leads to Impaired Gaze Stabilization in a Mouse Model of Spinocerebellar Ataxia Type 6 (SCA6).
CellsCerebellar glutamatergic system impacts spontaneous motor recovery by regulating Gria1 expression.
NPJ Regenerative medicineQuantitative susceptibility mapping of basal ganglia iron is associated with cognitive and motor functions that distinguish spinocerebellar ataxia type 6 and type 3.
Frontiers in neuroscienceCerebellar contribution to threat probability in a SCA6 mouse model.
Human molecular geneticsCriteria-unfulfilled multiple system atrophy at an initial stage exhibits laterality of middle cerebellar peduncles.
Journal of the neurological sciencesThe complexities of CACNA1A in clinical neurogenetics.
Journal of neurologyEfficacy of nilotinib in monozygotic twins with spinocerebellar ataxia type 6.
Journal of neurologyMutations in the Voltage Dependent Calcium Channel CACNA1A (P/Q type alpha 1A subunit) Causing Neurological Disorders - An Overview.
Neurology IndiaNovel Mutation in CACNA1A Associated with Activity-Induced Dystonia, Cervical Dystonia, and Mild Ataxia.
Case reports in neurological medicineThe Electrophysiological Findings in Spinocerebellar Ataxia Type 6: Evidence From 24 Patients.
Journal of clinical neurophysiology : official publication of the American Electroencephalographic SocietySpinocerebellar ataxia type 6 presenting with hallucination.
Psychogeriatrics : the official journal of the Japanese Psychogeriatric SocietyThe electrophysiological footprint of CACNA1A disorders.
Journal of neurologySpinocerebellar Ataxia Type 6: A Disorder of Connectivity?
The Journal of neuroscience : the official journal of the Society for NeuroscienceCommentary to: "The Pathophysiology and Clinical Manifestations of Spinocerebellar Ataxia Type 6" by Rentiya et al., Cerebellum 2020;19(3):459-464).
Cerebellum (London, England)Blended phenotype of adult-onset Alexander disease and spinocerebellar ataxia type 6.
Neurology. GeneticsNew Nonsense Variant c.2983G>T; p.Glu995* in the CACNA1A Gene Causes Progressive Autosomal Dominant Ataxia.
Journal of movement disordersSpinocerebellar ataxia type 6 family with phenotypic overlap with Multiple System Atrophy.
Neurologia i neurochirurgia polskaFeasibility and Acceptability of Lee Silverman Voice Treatment in Progressive Ataxias.
Cerebellum (London, England)Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia.
International journal of molecular sciencesDopaminergic function in spinocerebellar ataxia type 6 patients with and without parkinsonism.
Journal of neurologyTwo distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant.
BMC neurologyCerebral Venous Thrombosis: An Unexpected Complication with Cerebrospinal Fluid Leaks after a Fall in a Patient with Spinocerebellar Ataxia Type 6.
Internal medicine (Tokyo, Japan)Generation of induced pluripotent stem cell line (ZZUi0018-A ) from a patient with spinocerebellar ataxia type 6.
Stem cell researchThe Pathophysiology and Clinical Manifestations of Spinocerebellar Ataxia Type 6.
Cerebellum (London, England)Evolution of the vestibular function during head impulses in spinocerebellar ataxia type 6.
Journal of neurologyTemporal Invariance in SCA6 Is Related to Smaller Cerebellar Lobule VI and Greater Disease Severity.
The Journal of neuroscience : the official journal of the Society for NeuroscienceImpaired Adaptive Motor Learning Is Correlated With Cerebellar Hemispheric Gray Matter Atrophy in Spinocerebellar Ataxia Patients: A Voxel-Based Morphometry Study.
Frontiers in neurologyAction perception recruits the cerebellum and is impaired in patients with spinocerebellar ataxia.
Brain : a journal of neurologyQuantifying iron deposition in the cerebellar subtype of multiple system atrophy and spinocerebellar ataxia type 6 by quantitative susceptibility mapping.
Journal of the neurological sciencesPrediction of Survival With Long-Term Disease Progression in Most Common Spinocerebellar Ataxia.
Movement disorders : official journal of the Movement Disorder SocietyDegenerative and acquired sporadic adult onset ataxia.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiologyα1ACT Is Essential for Survival and Early Cerebellar Programming in a Critical Neonatal Window.
NeuronBeneficial effects of cerebellar rTMS stimulation on a patient with spinocerebellar ataxia type 6.
Brain stimulationTranscranial magnetic stimulation for diplopia in a patient with spinocerebellar ataxia type 6: a case report.
Cerebellum & ataxiasCerebellar Degeneration Increases Visual Influence on Dynamic Estimates of Verticality.
Current biology : CBAnalysis of CACNA1A CAG repeat lengths in patients with familial ALS.
Neurobiology of agingMajor intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant.
European journal of medical geneticsThe neuropsychiatric phenotype in CACNA1A mutations: a retrospective single center study and review of the literature.
European journal of neurologyAuthor Correction: Sensorimotor adaptation as a behavioural biomarker of early spinocerebellar ataxia type 6.
Scientific reportsThe benefits of a Neurogenetics clinic in an adult Academic Teaching Hospital.
Irish journal of medical scienceMolecular genetic testing for hereditary ataxia: What every neurologist should know.
Neurology. Clinical practiceA refractory head tremor appearing after volatile anesthesia combined with epidural anesthesia in a patient with spinocerebellar ataxia type 6.
JA clinical reportsTargeting the CACNA1A IRES as a Treatment for Spinocerebellar Ataxia Type 6.
Cerebellum (London, England)Sequencing analysis of the SCA6 CAG expansion excludes an influence of repeat interruptions on disease onset.
Journal of neurology, neurosurgery, and psychiatryDistinct cerebellar regions related to motor and cognitive performance in SCA6 patients.
NeuropsychologiaTrinucleotide repeat disorders.
Handbook of clinical neurologySelective Patterns of Cognitive Impairment in Spinocerebellar Ataxia Type 6 and Idiopathic Late-Onset Cerebellar Ataxia.
Archives of clinical neuropsychology : the official journal of the National Academy of NeuropsychologistsBicistronic CACNA1A Gene Expression in Neurons Derived from Spinocerebellar Ataxia Type 6 Patient-Induced Pluripotent Stem Cells.
Stem cells and developmentGenetic Screening for Spinocerebellar Ataxia Genes in a Japanese Single-Hospital Cohort.
Journal of movement disordersSensorimotor adaptation as a behavioural biomarker of early spinocerebellar ataxia type 6.
Scientific reportsAlternative splicing in the C-terminal tail of Cav2.1 is essential for preventing a neurological disease in mice.
Human molecular geneticsDownbeat nystagmus as an initial clinical sign in spinocerebellar ataxia type 6.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologySpinocerebellar ataxia type 6 presenting with parkinsonism, pre-synaptic dopaminergic dysfunction and hyperechogenicity of the substantia nigra.
Journal of the neurological sciencesResting-state functional connectivity and cognitive dysfunction correlations in spinocerebelellar ataxia type 6 (SCA6).
Human brain mappingGene dosage effect in spinocerebellar ataxia type 6 homozygotes: A clinical and neuropathological study.
Journal of the neurological sciencesVulnerability of Purkinje Cells Generated from Spinocerebellar Ataxia Type 6 Patient-Derived iPSCs.
Cell reportsProgression of Dysphagia in Spinocerebellar Ataxia Type 6.
DysphagiaPolyglutamine length-dependent toxicity from α1ACT in Drosophila models of spinocerebellar ataxia type 6.
Biology openCognitive dysfunction in patients with spinocerebellar ataxia type 6.
Journal of neurologyTransient Developmental Purkinje Cell Axonal Torpedoes in Healthy and Ataxic Mouse Cerebellum.
Frontiers in cellular neuroscienceValidity of a wearable accelerometer to quantify gait in spinocerebellar ataxia type 6.
Physiological measurementImpaired Spatio-Temporal Predictive Motor Timing Associated with Spinocerebellar Ataxia Type 6.
PloS oneSpinocerebellar ataxia type 6 in eastern India: Some new observations.
Annals of Indian Academy of NeurologyEvaluation of parkinsonism and striatal dopamine transporter loss in patients with spinocerebellar ataxia type 6.
Journal of neurologyTransient cerebellar alterations during development prior to obvious motor phenotype in a mouse model of spinocerebellar ataxia type 6.
The Journal of physiologyRelationship between type 1 metabotropic glutamate receptors and cerebellar ataxia.
Journal of neurology[Missense mutation R1345Q in CACNA1A gene causes a new type of ataxia with episodic tremor: clinical features, genetic analysis and treatment in a familial case].
Nan fang yi ke da xue xue bao = Journal of Southern Medical UniversityAn miRNA-mediated therapy for SCA6 blocks IRES-driven translation of the CACNA1A second cistron.
Science translational medicine4-aminopyridine reverses ataxia and cerebellar firing deficiency in a mouse model of spinocerebellar ataxia type 6.
Scientific reportsPolysomnography findings in spinocerebellar ataxia type 6.
Journal of sleep researchSensory and motor cortex function contributes to symptom severity in spinocerebellar ataxia type 6.
Brain structure & functionBiallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
American journal of medical genetics. Part ANext-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2.
Molecular genetics & genomic medicineLarge-Scale Functional RNAi Screen in C. elegans Identifies TGF-β and Notch Signaling Pathways as Modifiers of CACNA1A.
ASN neuroEye movement disorders are an early manifestation of CACNA1A mutations in children.
Developmental medicine and child neurologyRapid Onset of Motor Deficits in a Mouse Model of Spinocerebellar Ataxia Type 6 Precedes Late Cerebellar Degeneration.
eNeuroAn altered GABA-A receptor function in spinocerebellar ataxia type 6 and familial hemiplegic migraine type 1 associated with the CACNA1A gene mutation.
BBA clinicalStructural and Functional Magnetic Resonance Imaging of the Cerebellum: Considerations for Assessing Cerebellar Ataxias.
Cerebellum (London, England)SCA 6 with Writer's Cramp: The Phenotype Expanded.
Movement disorders clinical practiceEarly Cerebellar Network Shifting in Spinocerebellar Ataxia Type 6.
Cerebral cortex (New York, N.Y. : 1991)Spinocerebellar ataxia type 6 protein aggregates cause deficits in motor learning and cerebellar plasticity.
The Journal of neuroscience : the official journal of the Society for NeuroscienceDecreased metabotropic glutamate receptor type 1 availability in a patient with spinocerebellar ataxia type 6: A (11)C-ITMM PET study.
Journal of the neurological sciencesLoss of MyD88 alters neuroinflammatory response and attenuates early Purkinje cell loss in a spinocerebellar ataxia type 6 mouse model.
Human molecular geneticsClinical characteristics of combined cases of spinocerebellar ataxia types 6 and 31.
Journal of neurogeneticsFamilial hemiplegic migraine type 1 associated with parkinsonism: a case report.
Case reports in neurologyDnaJ-1 and karyopherin α3 suppress degeneration in a new Drosophila model of Spinocerebellar Ataxia Type 6.
Human molecular geneticsForce dysmetria in spinocerebellar ataxia 6 correlates with functional capacity.
Frontiers in human neuroscience[SCA6 presenting parkinsonism without ataxia--A case report].
Rinsho shinkeigaku = Clinical neurologySensorimotor processing for balance in spinocerebellar ataxia type 6.
Movement disorders : official journal of the Movement Disorder SocietyStructural and functional MRI abnormalities of cerebellar cortex and nuclei in SCA3, SCA6 and Friedreich's ataxia.
Brain : a journal of neurologyMolecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy and transcriptional dysregulation. The multifaceted aspects of a single mutation.
Frontiers in cellular neuroscienceSegmentation of the Cerebellar Peduncles Using a Random Forest Classifier and a Multi-object Geometric Deformable Model: Application to Spinocerebellar Ataxia Type 6.
NeuroinformaticsThe 3-second rule in hereditary pure cerebellar ataxia: a synchronized tapping study.
PloS oneRare frequency of downbeat positioning nystagmus in spinocerebellar ataxia type 31.
Journal of the neurological sciencesVestibular Performance During High-Acceleration Stimuli Correlates with Clinical Decline in SCA6.
Cerebellum (London, England)Molecular characterization and functional expression of the Apis mellifera voltage-dependent Ca2+ channels.
Insect biochemistry and molecular biologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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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.
- Resilience to Endoplasmic Reticulum Stress Mitigates Membrane Hyperexcitability Underlying Late Disease Onset in a Murine Model of SCA6.
- Spinocerebellar Ataxia Type 6 Initially Diagnosed as Alcoholic Cerebellar Degeneration: A Case Report.
- A diagnostic challenge: spinocerebellar ataxia type 6 presenting with dystonia and parkinsonism.
- Redefining the Pathogenic CAG Repeat Units Threshold in CACNA1A for Spinocerebellar Ataxia Type 6.
- Commentary on the Flocculonodular Lobe as a Cerebellar Resilience Zone: Could Exercise Really be the Best Medicine?
- Stimulation of Purkinje cell firing reverses early onset spatial navigation deficits in a spinocerebellar ataxia type 6 mouse model.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:98758(Orphanet)
- OMIM OMIM:183086(OMIM)
- MONDO:0008457(MONDO)
- GARD:10351(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q2868788(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
