Clinical and genetic heterogeneity in Indian subcontinent patients with Autosomal Dominant Spinocerebellar Ataxia 42
Objective: We describe the case of a family of 2 female siblings of Indian subcontinent with genetically proven SCA 42 Background: Spinocerebellar ataxia (SCA) are…Prospective study of cognition in SCA2
Objective: Evaluate prospectively cognitive dysfunction in subjects with SCA2 using Mini Mental Examination (MMSE) and Montreal Cognition Assesment (MOCA), looking for correlation between cognitiion and motor…Gait in Spinocerebellar Ataxia Type12 (SCA-12)
Objective: The aim of our study was to evaluate the spatial and temporal parameters of gait in SCA12 patients and to compare it with healthy…Need of next generation sequencing technology to de-convolute autosomal recessive cerebellar ataxias in India
Objective: Comparison of two next generation platform to screen ARCA patients in Indian population Background: India is deficient with the molecular screening of the ARCAs.…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…Classification of spinocerebellar degeneration based on ratio of brainstem white matter to cerebellar gray matter by voxel-based morphometry
Objective: We examined the usefulness of voxel-based morphometry (VBM) analysis in auxiliary diagnosis of cases with spinocerebellar degeneration, including those with MSA-C. Background: In Japan,…Research on the modifier gene of Hereditary spinocerebellar ataxia type 2
Objective: To investigate the influence of CAG trinucleotides repeat of some (CAG)n-containing gene and some gene polymorphisms in AO of SCA2, and analyse the difference…The PLA2G6 Gene Mutation Causes Parkinson’s Disease: A Case Report
Objective: To investigate the clinical features of Parkinson's disease caused by PLA2G6 gene mutation． Background: Early-onset Parkinsonism is a group of syndromes characterized by Parkinson's disease…Spinocerebellar Ataxia Type 2 Presenting with Chorea: Korean Cases
Objective: To report cases of SCA2 presenting with chorea, which have not been reported in Korea Background: Spinocerebellar ataxias (SCAs) manifest ethnic and geographical differences…STN-DBS responsive motor complication and pathological gambling in type IV SCA3
Objective: Background: Type IV spinocerebellar ataxia type 3 (SCA3) could present as pure parkinsonism. A bilateral subthalamic nucleus deep brain stimulation (STN-DBS) has been reported…
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