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:…A Case Report of Spinocerebellar ataxia 13 with Parkinsonism
Objective: To present a Spinocerebellar Ataxia (SCA) 13 case who presented with parkinsonism with positive DatScan and good response to Levodopa. Background: Spinocerebellar ataxia (SCA)…The Phenotypical Presentation of SCA8 in Taiwan
Objective: We described the clinical features and phenotypic presentation of 40 patients who was diagnosed with spinocerebellar ataxia type 8 (SCA8) in a single tertiary…ROI based Machine Learning Classification Model for Spinocerebellar Ataxia type 12
Objective: To find specific Region of Interests (ROI) with atrophy in Spinocerebellar ataxia type 12 (SCA12) patients using a machine learning classification model with respect…Effect of repetitive transcranial magnetic stimulation with intensive physical therapy in cerebellar ataxia: A pilot study
Objective: The present study investigated the efficacy and safety of combination treatment of repetitive transcranial magnetic stimulation (rTMS) and physical therapy (PT) in patients with…
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