Upward Gaze Palsy in SCA3: a valuable semiological sign
Objective: Evaluate the prevalence of upward gaze palsy (UGP) and investigate its useful in assisting the clinical differentiation of SCAs. Background: Spinocerebellar ataxias (SCAs) represent…Plasma biomarker quantification in SCA3 using the Neurology 4-PLEX A kit and the Simoa technology
Objective: We present the results of plasma biomarker quantification in a cohort of spinocerebellar ataxia type-3 (SCA3) carriers using a Simoa assay. Background: Development of…SCA48: Ataxia Plus Chorea in a New Spanish Family
Objective: To describe a new family with Spinocerebellar Ataxia 48 (SCA48) characterized by ataxia and mild chorea as the most prominent initial symptoms as well…Spinocerebellar Ataxia Type 3 Presenting with Motor Neuron Disease
Objective: Spinocerebellar ataxia type 3 (SCA3) is associated with a wide spectrum of clinical manifestations, including peripheral neuropathy and amyotrophy, in addition to other motor…The genetic study of autosomal dominant spinocerebellar ataxia in Kazakhstan
Objective: To perform the genetic study of autosomal dominant spinocerebellar ataxia (ADSCA) cases from Kazakhstan. Background: Spinocerebellar ataxias (SCAs) is a large group of hereditary…Novel Mutation in the Protein Kinase C Gamma Gene Causing Spinocerebellar Ataxia-14 in a Large Family
Objective: To report a novel mutation not been previously reported in large, multi-ethnic general populations, in the protein kinase C gamma (PRKCG) gene causing spinocerebellar ataxia…Prevalence and Clinical Profile of Common Spinocerebellar Ataxia in Malaysia
Objective: To describe prevalence and demographics of Spinocerebellar Ataxia (SCA) 1,2,3,6 and 7, and the phenotypic characteristics of SCA 3 patients in Malaysia. Background: Spinocerebellar…An unusual phenotype of spinocerebellar ataxia type 12
Objective: To describe a case of spinocerebellar ataxia type 12 (SCA-12) with an unusual phenotype. Background: SCA-12 is a rare autosomal dominant cerebellar ataxia which…Amantadine Therapy for Ataxia Management in Patients with Spinocerebellar Ataxia Type 7
Objective: To report the therapeutic effects of amantadine in a patient with Spinocerebellar ataxia type 7 (SCA7) Background: Spinocerebellar ataxia type 7 is a rare…A Novel CACNA1A Nonsense Variant [c.6481C>G; (p.Arg2161Gly)] Causing Spino Cerebellar Ataxia Type 6 (SCA6)
Objective: To describe a new missense variant found in a 67 years old woman with progressive ataxia causing a phenotype compatible with SCA 6. Background:…
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