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…Differential Value of Brain Magnetic Resonance Imaging in MSA-C and SCAs
Objective: Diagnostic value of brain magnetic resonance imaging (MRI) in differentiating multiple system atrophy cerebellar (MSA-C) phenotype and spinocerebellar ataxias (SCAs) was assessed according to…Reconstructing the history of Machado-Joseph disease
Objective: The authors debate if previous descriptions of cerebellar ataxias with autossomal dominant pattern of inheritance, resembling MJD phenotipically, should gain the merit of first…Two novel ANO10 mutations causing adult-onset autosomal recessive spinocerebellar ataxia
Objective: Clinical and genetic characterization of a patient Background: In recent years mutations more than 100 different genes have been shown to underlie spinocerebellar ataxias.…
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