Frequency of SCA 2, 3 and 7 in Slovak patients with spinocerebellar ataxia – first report of SCA2 patient from Slovakia
Objective: The aim of this study is to investigate the frequency of spinocerebellar ataxia (SCA) 2, 3 and 7 among Slovak patients with cerebellar ataxia…A novel missense variant in the TTBK2 gene in a north American family with late-onset cerebellar ataxia.
Objective: To describe a case of novel genetic variant of TTBK2 gene in a woman with late-onset cerebellar ataxia and her symptomatic mother. Background: Pathogenic…Novel CACNA1A splice site variant associated with cerebellar ataxia and mild cognitive impairment; case report of Czech family.
Objective: To describe a case of two related individuals with cerebellar ataxia with a novel variant in the calcium voltage-gated channel subunit alpha1-A (CACNA1A) gene.…Dystonic tremor as main manifestation of a large SCA21 family
Objective: To identify the genetic cause of disease in a French family with multiple members affected by dystonic tremor with autosomal dominant inheritance. Background: Spinocerebellar…Generalized chorea, cerebellar ataxia and spastic tetraparesis with a genetic mutation in FAT2 gene – coincidence or a new SCA45 phenotype?
Objective: To present what might be a new phenotype of spinocerebellar ataxia type 45. Background: Spinocerebellar ataxias (SCAs) are a heterogeneous group of autosomal dominant,…SCA5 – A new Cause of Parkinsonism?
Objective: To provide a description of a case of a young patient with atypical Parkinsonism with a mutation in SCA5. Background: While several scpinocerebellar ataxias…A CASE REPORT OF EARLY-ONSET SPINOCEREBELLAR ATAXIA TYPE 35
Objective: To broaden diagnostic testing of likely genetic ataxias. Background: Spinocerebellar ataxia (SCA) refers to a heterogeneous group of degenerative genetic disorders which encompasses a…Expanding the services of Neurogenetic Clinic – Lessons learnt from Cerebellar Ataxia cohort
Objective: We present an overview of patients seen by our Neurogenetic Clinic since 2019, focusing on the cerebellar ataxia (CA) cohort. Background: Diagnostic yield of…Therapies, Research Funding and Racial Diversity in Cerebellar Ataxia: A Systematic Review of the Literature
Objective: To understand the scope of clinical research in cerebellar ataxia by performing a systematic review of controlled clinical trials over the past 50 years,…Machine learning-based classification of SCA1, SCA2, and Healthy controls using graph features
Objective: To differentiate genetic variants of spinocerebellar ataxia (SCA1 and SCA2) and healthy controls using machine learning on resting-state functional Magnetic Resonance Imaging graph features.…
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