Fixel Analysis of Diffusion Imaging in Cerebellar Tracts as a Quantitative Marker of Disease Progression in Spinocerebellar Ataxia
Objective: This study aimed to identify white matter changes in the brain of presymptomatic and early-stage SCA1 and SCA3 mutation carriers using fixel-based analysis of…Spinocerebellar ataxia type 2 (SCA2) and Seizures: Is There a Correlation?
Objective: We describe 3 patients of SCA2 with seizures, a rare phenomenology. Background: Spinocerebellar ataxia (SCA) is a heterogenous group of autosomal dominant neurodegenerative ataxic…4-Aminopyridine improves downbeat nystagmus in SCA27b: A case report
Objective: To assess objective clinical improvement in video-oculography in a patient with SCA27b on 4-aminopyridine (4-AP) treatment. Background: Spinocerebellar ataxia 27b (SCA27b; MIM 620174) is…A case of dystonia-predominant spinocerebellar ataxia type 3 treated with bilateral deep brain stimulation to the globus pallidus internal segment
Objective: To present a case of Spinocerebellar Ataxia type 3 (SCA3) with generalized dystonia as the predominant clinical phenotype treated with bilateral globus pallidus internus…Double trouble: dystonic tremor due to FXTAS in a SCA1 family
Objective: To describe a patient belonging to a SCA1 family, who presented with action tremor and dysmetria but with a different genetic etiology. Background: Spino-Cerebellar…Spinocerebellar ataxia type 28 presenting as spastic paraparesis
Objective: To describe a patient with spinocerebellar ataxia type 28 (SCA28) presenting with isolated spastic paraparesis. Background: Autosomal dominant (AD) mutations in the ATPase family…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…
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