Ataxia cerebelosa autossómica dominante rara, caracterizada por ataxia dos membros e da marcha lentamente progressiva e de início tardio, disartria e nistagmo variável. Os exames de neuroimagem cerebral demonstram atrofia cerebelosa.
Introdução
O que você precisa saber de cara
Ataxia cerebelosa autossômica dominante rara, caracterizada por ataxia dos membros e da marcha lentamente progressiva e de início tardio, disartria e nistagmo variável. Os exames de neuroimagem cerebral demonstram atrofia cerebelosa.
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
+ 3 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 8 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.
Involved in the regulation of cell migration (PubMed:18534823). May be involved in mediating the organization of the parallel fibers of granule cells during cerebellar development (By similarity)
Cell membraneCell junctionGolgi apparatus, trans-Golgi network
Spinocerebellar ataxia 45
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. SCA45 is a slowly progressive, autosomal dominant form with onset in adulthood.
Variantes genéticas (ClinVar)
70 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 5,215 variantes classificadas pelo ClinVar.
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 45
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
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Mostrando amostra de 99 publicações de um total de 3.160
The insertion of an ATTTC repeat in an Alu element hyperactivates a neurodevelopmental enhancer in spinocerebellar ataxia type 37.
Alu elements are evolutionarily very old primate-specific interspersed repeat elements that constitute ∼11% of the human genome. They are a source of short tandem repeats (STRs), which often expand in size and cause inherited neuromuscular and neurodegenerative disorders. How expanded STR insertion mutations within Alu STRs culminate in disease remains unknown. Here, we report an Alu STR located in an intron of DAB1 that functions as a neurodevelopmental enhancer. We demonstrate that an ATTTC repeat insertion in this DAB1 Alu STR, known to cause spinocerebellar ataxia type 37 (SCA37), hyperactivates a neurodevelopmental DAB1 enhancer. Importantly, we show that neurons derived from SCA37 subjects have higher levels of DAB1 expression and that DAB1 overexpression causes abnormal axonal pathfinding in vivo. Overall, these results establish that neuronal dysregulation of a developmental DAB1 Alu STR enhancer contributes to SCA37 pathogenesis, an unexplored mechanism likely acting in many Alu STR diseases, potentially reshaping the therapeutic landscape.
Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points.
Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician-reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short-term fluctuations, limiting its sensitivity in trials. To overcome this, we employed SARAhome, a video-based, self-administered tool for high-frequency, remote ataxia assessment. We assessed feasibility and validity of SARAhome in 65 SCA3 patients from seven centers. Participants recorded SARAhome twice daily for 14 days using a mobile e-health app. We analyzed adherence, intraindividual fluctuations and their predictors, and evaluated sensitivity to change in a longitudinal substudy of 11 patients. Adherence to the study protocol was generally high (80.2%) with valid scores in 79.2% of 1459 recordings. Maximum adherence occurred over a 4-day period (84.8%). Fluctuations ranged 3.0 points between lowest and highest scores (IQR: 2.5-4.5) and 1.0 point based on score IQRs (IQR: 0.5-1.5), corresponding to 10.7% and 3.6% of the maximal SARAhome score. Fluctuations showed rough agreement with patient global impression. Greater disease severity and longer CAG repeats were associated with smaller relative fluctuations. Over a median follow-up of 411 days, SARAhome showed higher sensitivity to change than conventional SARA (SRM: 0.67 vs. 0.37). SARAhome is a feasible, innovative video-based tool for remote, high-frequency monitoring of ataxia severity. A 4-day recording effectively captures relevant fluctuations and enhances sensitivity to change, supporting its use in future SCA3 trials.
Multidimensional abnormal gait analysis and biomarker identification for patients with spinocerebellar ataxia type 3 using an Azure Kinect-based motion capture system.
Spinocerebellar Ataxia Type 3 (SCA3), the most common hereditary ataxia in China, is characterized by progressive gait dysfunction. While quantitative gait analysis provides critical insights into movement disorder management, conventional motion capture systems are often cost-prohibitive and impractical for clinical use. We propose using the markerless Azure Kinect, a cost-effective and portable tool for gait analysis, to detect SCA3-specific gait patterns and identify gait parameters associated with disease severity and duration. We enrolled 38 patients with SCA3 patients and 42 healthy controls (HCs). Gait was recorded using an Azure Kinect. Multiple gait parameters were computed and compared with t-tests/Mann-Whitney U tests. The receiver operating characteristic (ROC) analysis identified discriminatory biomarkers, while Pearson's test assessed gait-clinical characteristic associations. Patients with SCA3 exhibited increased mediolateral margins of stability (MOS, p < 0.01), wider step width (p < 0.001), shorter stride length (p = 0.003), slower gait speed (p = 0.007), and reduced hip/knee/ankle joint angles (p < 0.05) compared to HCs. Step width demonstrated the highest diagnostic accuracy (AUC = 0.878, cutoff = 0.197). Increased medial-lateral MOS was negatively correlated with step length (r = -0.52∼-0.45, P < 0.005). Minimal hip frontal angles negatively correlated with SARA scores (r = -0.46, p = 0.004) and disease duration (r = -0.35, p = 0.028), reflecting a progressive cerebellar degeneration. In SCA3, gait abnormalities such as increased step width and shortened stride length indicate compensatory adaptations exist to enhance dynamic stability. Step width is identified as a sensitive biomarker for SCA3 screening.
The impact of interrupted ATXN10 expansions on clinical findings of spinocerebellar ataxia type 10.
Spinocerebellar ataxia type 10 (SCA10), due to an ATTCT repeat expansion in ATXN10, has variable expressivity and the role of presence (ATTCTint +) and absence (ATTCTint-) of interruptions in the repeat is not clear. We aimed to describe the relations between ATTCTint + and age at onset, seizures, and neurologic severity in ataxic and non-ataxic carriers from Brazil. Family, age at onset (AO), and seizures data plus DNA were obtained from symptomatic carriers already diagnosed in Porto Alegre, Curitiba, and São Paulo, Brazil. Patients and their relatives were invited to be evaluated through Scale of Assessment and Rating of Ataxia (SARA) and other clinical scales; a SARA > 2.5 classified subjects as ataxic carriers. Repeat-primed PCR (RP-PCR) defined the expansions with (ATTCTint +) or without (ATTCTint-) interruptions. Comparisons were performed for a p level of 0.05. Among 78 ataxic carriers, earlier AO (p = 0.039) and higher occurrences of epilepsy (p < 0.0001) were seen in subjects with ATTCTint + than in those with ATTCTint-. Clinical scales were worse in 34 ataxics than in 7 non-ataxics and 10 related controls (p = 0.006) and did not discriminate non-ataxics from controls. The 11 ataxic ATTCTint + carriers had higher SARA scores per year of disease duration than the 23 ATTCTint- carriers (r = 0.879, beta = 0.45, p = 0.0001). ATTCTint + carriers had worse clinical findings than ATTCTint- carriers: earlier AO, more seizures, and worse ataxia scores. Interruptions in the expanded repeat have a real impact in SCA10 phenotype.
Cerebellar cognitive affective syndrome in patients with spinocerebellar ataxia type 10.
Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant cerebellar ataxia, characterized by epilepsy, ataxic symptoms, and cognitive impairments linked to Cerebellar Cognitive Affective Syndrome (CCAS). The Cerebellar Cognitive Affective Syndrome Scale (CCAS-S) has been developed to identify CCAS across various cerebellar pathologies. To determine whether patients with SCA10 exhibit CCAS using the CCAS-S, and to compare its effectiveness with the Montreal Cognitive Assessment (MoCA). A secondary objective was to evaluate the effect of demographic and clinical data on CCAS-S performance. Fifteen patients with SCA10 and fifteen matched controls underwent assessments using the CCAS-S, the MoCA, the Scale for the Assessment and Rating of Ataxia (SARA), and the Center for Epidemiologic Studies Depression Scale (CES-D). Diagnostic accuracy was analyzed using ROC curve analysis, comparing total and subcategory scores between groups. Demographic and clinical data were examined for relations with CCAS-S scores. The CCAS-S effectively distinguished cognitive impairments in SCA10 patients, showing satisfactory sensitivity and specificity (AUC of 0.83). Although no significant differences were found in the AUCs between CCAS-S and MoCA (p = 0.45), the CCAS-S demonstrated a significantly larger effect size in the comparison between patients and control group (d = 2.33). Cognitive performance was poorer in patients than in controls (p = < 0.001), with depressive symptoms and age having a significant impact on CCAS-S outcomes. Patients with the SCA10 mutation exhibit CCAS. Besides the significant cognitive impairment, also detected by MoCA, the CCAS-S score was significantly affected by indicators of depressive mood and age, highlighting the importance of considering these variables during outcome analyses.
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 99
The insertion of an ATTTC repeat in an Alu element hyperactivates a neurodevelopmental enhancer in spinocerebellar ataxia type 37.
Cell reportsRemote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points.
Annals of clinical and translational neurologyInterpretable machine learning for differentiating SCA3 and MSA-C using gait and postural features from wearable sensors.
Journal of neuroengineering and rehabilitationMultidimensional abnormal gait analysis and biomarker identification for patients with spinocerebellar ataxia type 3 using an Azure Kinect-based motion capture system.
Gait & postureNaphthyridine carbamate dimer ligand induces formation of Z-RNA-like fold of disease-related RNA and exhibits a molecular glue characteristics in crystal lattice formation.
Nucleic acids researchSpinocerebellar Ataxia Type 27B can be Suspected Based on Clinical Phenotype: The Massachusetts General Hospital Ataxia Center Experience.
Cerebellum (London, England)The impact of interrupted ATXN10 expansions on clinical findings of spinocerebellar ataxia type 10.
Journal of neurologyCerebellar cognitive affective syndrome in patients with spinocerebellar ataxia type 10.
PloS onePredicting Which Mitophagy Proteins Are Dysregulated in Spinocerebellar Ataxia Type 3 (SCA3) Using the Auto-p2docking Pipeline.
International journal of molecular sciencesEffects of trace element dysregulation on brain structure and function in spinocerebellar Ataxia type 3.
Neurobiology of diseaseDemystifying the Etiology of ILOCA in the Genomic Era: A Narrative Review.
Cerebellum (London, England)Novel Intermediate ATXN10 Alleles in the Healthy Peruvian Population: A Matter of Indigenous American Ethnic Origin.
Cerebellum (London, England)Spinocerebellar Ataxias: Phenotypic Spectrum of PolyQ versus Non-Repeat Expansion Forms.
Cerebellum (London, England)Spinocerebellar ataxia type 27B (SCA27B) in India: insights from a large cohort study suggest ancient origin.
NeurogeneticsImbalanced optimal feedback motor control system in spinocerebellar ataxia type 3.
European journal of neurologyMRI-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 SocietyCACNA1A variant associated with generalized dystonia.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyClinical Presentation and Neuro-Ophthalmological Features in Spinocerebellar Ataxia Type 3: A Case Report and Literature Review.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyRare association between spinocerebellar ataxia and amyotrophic lateral sclerosis: a case series.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyDynamic molecular network analysis of iPSC-Purkinje cells differentiation delineates roles of ISG15 in SCA1 at the earliest stage.
Communications biologyCo-existence of Myelin Oligodendrocyte Glycoprotien Antibody-associated Disease (MOGAD) and Spinocerebellar Ataxia type 1 (SCA1): A case report.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyNovel heterozygous PRPH2 variant identified in a patient with spinocerebellar ataxia type 14 and macular dystrophy.
Ophthalmic geneticsCompressed cerebellar functional connectome hierarchy in spinocerebellar ataxia type 3.
Human brain mappingCranial Nerve Thinning Distinguishes RFC1-Related Disorder from Other Late-Onset Ataxias.
Movement disorders clinical practiceSubcellular localization and ER-mediated cytotoxic function of α1A and α1ACT in spinocerebellar ataxia type 6.
Biochemical and biophysical research communicationsSpinocerebellar ataxia type 2 has multiple ancestral origins.
Parkinsonism & related disordersAutosomal recessive spino-cerebellar ataxia type 10 (SCAR10): clinical presentation associated with c.289delA ANO10 gene variant.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyThree Hertz postural leg tremor impairs posture maintenance in multiple system atrophy-cerebellar type.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyA boy with a progressive neurologic decline harboring two coexisting mutations in KMT2D and VPS13D.
Brain & developmentA novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report.
Acta neuropathologica communicationsComposite autonomic severity scoring in spinocerebellar ataxia type 1 and 2.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaTemporal Relationship between Impairment of Cerebellar Motor Learning and Deterioration of Ataxia in Patients with Cerebellar Degeneration.
Cerebellum (London, England)Systematic assessment of plasma biomarkers in spinocerebellar ataxia.
Neurobiology of diseaseAge-related differences of cerebellar cortex and nuclei: MRI findings in healthy controls and its application to spinocerebellar ataxia (SCA6) patients.
NeuroImageGene therapy for selected neuromuscular and trinucleotide repeat disorders - An insight to subsume South Asia for multicenter clinical trials.
IBRO neuroscience reportsBaseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3.
NeurologySpinocerebellar ataxia type 31: A clinical and radiological literature review.
Journal of the neurological sciencesGenotype-Phenotype Correlations for ATX-TBP (SCA17): MDSGene Systematic Review.
Movement disorders : official journal of the Movement Disorder SocietyLong-read sequencing identified intronic (GGCCTG)n expansion in NOP56 in one SCA36 family and literature review.
Clinical neurology and neurosurgeryCerebello-cerebral resting-state functional connectivity in spinocerebellar ataxia type 3.
Human brain mappingMoyamoya associated with Turner syndrome in a patient with type 2 spinocerebellar ataxia-Occam's razor or Hickam's dictum: a case report.
BMC neurologyCerebellar glutamatergic system impacts spontaneous motor recovery by regulating Gria1 expression.
NPJ Regenerative medicineCompounds activating VCP D1 ATPase enhance both autophagic and proteasomal neurotoxic protein clearance.
Nature communicationsThymidine Kinase 2 and Mitochondrial Protein COX I in the Cerebellum of Patients with Spinocerebellar Ataxia Type 31 Caused by Penta-nucleotide Repeats (TTCCA)n.
Cerebellum (London, England)Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial.
The Lancet. NeurologyAmyotrophic lateral sclerosis associated with a pathological expansion in the ATXN7 gene.
Amyotrophic lateral sclerosis & frontotemporal degenerationNeuropathology of SCA34 showing widespread oligodendroglial pathology with vacuolar white matter degeneration: a case study.
Acta neuropathologica communicationsMidbrain atrophy related to parkinsonism in a non-coding repeat expansion disorder: five cases of spinocerebellar ataxia type 31 with nigrostriatal dopaminergic dysfunction.
Cerebellum & ataxiasThe electrophysiological footprint of CACNA1A disorders.
Journal of neurologyWheelchair mobility, motor performance and participation of adult wheelchair users with ARSACS: a cross-sectional study.
Disability and rehabilitation. Assistive technologySelective forces acting on spinocerebellar ataxia type 3/Machado-Joseph disease recurrency: A systematic review and meta-analysis.
Clinical geneticsAssociation of serum neurofilament light and disease severity in patients with spinocerebellar ataxia type 3.
NeurologyGeneration of human iPS cell line IBCHi002-A from spinocerebellar ataxia type 3/Machado-Joseph disease patient's fibroblasts.
Stem cell researchGeneration of induced pluripotent stem cell line (CSUXHi002-A) from a patient with spinocerebellar ataxia type 1.
Stem cell researchComorbid argyrophilic grain disease in an 87-year-old male with spinocerebellar ataxia type 31 with dementia: a case report.
BMC neurologyExtending the Phenotypic Spectrum Associated with STUB1 Mutations: A Case of Dystonia.
Movement disorders clinical practiceSupratentorial and Infratentorial Lesions in Spinocerebellar Ataxia Type 3.
Frontiers in neurologyIn Human and Mouse Spino-Cerebellar Tissue, Ataxin-2 Expansion Affects Ceramide-Sphingomyelin Metabolism.
International journal of molecular sciencesNovel compound heterozygous mutations in the WWOX gene cause early infantile epileptic encephalopathy.
International journal of developmental neuroscience : the official journal of the International Society for Developmental NeuroscienceThe structural basis of lipid scrambling and inactivation in the endoplasmic reticulum scramblase TMEM16K.
Nature communicationsInvestigating PUM1 mutations in a Taiwanese cohort with cerebellar ataxia.
Parkinsonism & related disordersSpinocerebellar ataxias in Southern Brazil: Genotypic and phenotypic evaluation of 213 families.
Clinical neurology and neurosurgeryIdentification of a novel mutation in the CACNA1C gene in a Chinese family with autosomal dominant cerebellar ataxia.
BMC neurologyAtaxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42.
Neurobiology of diseasePrevalence and clinicoradiological features of spinocerebellar ataxia type 34 in a Japanese ataxia cohort.
Parkinsonism & related disordersHeterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia.
Clinical geneticsClinical and molecular studies in two new cases of ARSACS.
NeurogeneticsShort Review: Investigating ARSACS: models for understanding cerebellar degeneration.
Neuropathology and applied neurobiologyCoiled-coil structure-dependent interactions between polyQ proteins and Foxo lead to dendrite pathology and behavioral defects.
Proceedings of the National Academy of Sciences of the United States of AmericaSerum neurofilament light is increased in multiple system atrophy of cerebellar type and in repeat-expansion spinocerebellar ataxias: a pilot study.
Journal of neurologyBody composition in Spinocerebellar ataxia type 3 and 10 patients: Comparative study with control group.
Nutritional neuroscienceEvaluation of Various Movement Disorders in Patients of Genetically Proven Spinocerebellar Ataxia: A Study from a Tertiary Care Center in Northern India.
Annals of Indian Academy of NeurologyIncidentalome in Neurogenetics: Pathogenic Variant of NSD1 in a Patient With Spinocerebellar Ataxia (SCA).
Frontiers in geneticsA diagnostic decision tree for adult cerebellar ataxia based on pontine magnetic resonance imaging.
Journal of the neurological sciencesOptical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Brain : a journal of neurologyThe progression rate of spinocerebellar ataxia type 2 changes with stage of disease.
Orphanet journal of rare diseasesInositol 1,4,5-trisphosphate receptors and neurodegenerative disorders.
The FEBS journalImpact of disease duration on functional status of patients with spinocerebellar ataxia type 2.
Arquivos de neuro-psiquiatriaIdentification of a Splicing Mutation in ITPR1 via WES in a Chinese Early-Onset Spinocerebellar Ataxia Family.
Cerebellum (London, England)Developmental YAPdeltaC determines adult pathology in a model of spinocerebellar ataxia type 1.
Nature communicationsSequence configuration of spinocerebellar ataxia type 8 repeat expansions in a Japanese cohort of 797 ataxia subjects.
Journal of the neurological sciencesA novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca2+ signal patterns.
Journal of neurologyKnockdown and replacement therapy mediated by artificial mirtrons in spinocerebellar ataxia 7.
Nucleic acids researchCalcium Signaling, PKC Gamma, IP3R1 and CAR8 Link Spinocerebellar Ataxias and Purkinje Cell Dendritic Development.
Current neuropharmacologyCancer in Machado-Joseph disease patients-low frequency as a cause of death.
Cancer geneticsRegulatory 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 sciencesRats with a missense mutation in Atm display neuroinflammation and neurodegeneration subsequent to accumulation of cytosolic DNA following unrepaired DNA damage.
Journal of leukocyte biologyNatural History of Spinocerebellar Ataxia Type 31: a 4-Year Prospective Study.
Cerebellum (London, England)Genome-wide association study for hereditary ataxia in the Parson Russell Terrier and DNA-testing for ataxia-associated mutations in the Parson and Jack Russell Terrier.
BMC veterinary researchTrinucleotide repeat expansion of TATA-binding protein gene associated with Parkinson's disease: A Thai multicenter study.
Parkinsonism & related disordersMutation analysis of 6 spinocerebellar ataxia (SCA) types in patients from southern Turkey.
Turkish journal of medical sciencesLiver Disease in Pediatric Patients With Ataxia Telangiectasia: A Novel Report.
Journal of pediatric gastroenterology and nutritionAbnormalities in synaptic dynamics during development in a mouse model of spinocerebellar ataxia type 1.
Scientific reportsPopulation genetics and new insight into range of CAG repeats of spinocerebellar ataxia type 3 in the Han Chinese population.
PloS oneCentral auditory processing in patients with spinocerebellar ataxia.
Hearing researchPsychiatric disorders, spinocerebellar ataxia type 3 and CAG expansion.
Journal of neurologyDecreased metabotropic glutamate receptor type 1 availability in a patient with spinocerebellar ataxia type 6: A (11)C-ITMM PET study.
Journal of the neurological sciencesAltered p53 and NOX1 activity cause bioenergetic defects in a SCA7 polyglutamine disease model.
Biochimica et biophysica actaAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Associação brasileira dedicada a Doença de Machado-Joseph.
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Ataxia espinocerebelosa tipo 45
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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.
- The insertion of an ATTTC repeat in an Alu element hyperactivates a neurodevelopmental enhancer in spinocerebellar ataxia type 37.
- Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points.
- Multidimensional abnormal gait analysis and biomarker identification for patients with spinocerebellar ataxia type 3 using an Azure Kinect-based motion capture system.
- The impact of interrupted ATXN10 expansions on clinical findings of spinocerebellar ataxia type 10.
- Cerebellar cognitive affective syndrome in patients with spinocerebellar ataxia type 10.
- 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:589527(Orphanet)
- OMIM OMIM:617769(OMIM)
- MONDO:0033480(MONDO)
- GARD:22353(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
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
