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.…Polysomnographic features of Spinocerebellar Ataxia type 3 – a case report
Objective: To describe, through a case report, the range of abnormal sleep patterns of Spinocerebellar Ataxia type 3 (SCA3). Background: SCA3 is a progressive neurodegenerative…Evolution of ataxia in risk persons for spinocerebellar ataxia (SCA)
Objective: To study the premanifest stage of the most common SCAs. Specifically, we wanted to determine the conversion rate to ataxia in risk persons and…Ocular Motor Findings in Spinocerebellar Ataxia Type 17
Objective: To delineate the ocular motor findings in spinocerebellar ataxia type 17 (SCA17). Background: Even though the ocular motor findings largely overlap among spinocerebellar ataxia (SCA),…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…
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