Motor control of finger individuation and strength in patients with Parkinson’s disease and Spinocerebellar Ataxia type 12
Objective: Compare finger individuation (FI) and maximum finger strength in healthy control, patients with Parkinson’s Disease (PD) and Spinocerebellar ataxia type12 (SCA12). We also examined…Genetic and functional analysis of CCDC88C mutations in patients with Parkinson’s disease.
Objective: To investigate the association between rare deleterious CCDC88C variants and PD. Background: SCA40 is a rare form of spinocerebellar ataxia caused by heterozygous mutations…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…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,…
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