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…Concurrent SCA3 and SCA10 in a young man with ataxia and prominent dystonia
Objective: To describe a case of a man with pathogenic repeat expansions in both ATXN3 and ATXN10. Background: SCA3 is caused by abnormal polyglutamine repeat…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…Clinico-genetic correlation in 102 Spinocerebellar Ataxia Type 12 (SCA 12) patients
Objective: To report the phenotype among the largest number of genotypically confirmed SCA 12 patients. Background: SCA12 is an autosomal dominant cerebellar ataxia (ADCA) caused…
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