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…Familial SCA2-parkinsonism presented as intractable oromandibular dystonia
Objective: We report a patient of spinocerebellar ataxia type 2(SCA2)-parkinsonism family who developed oromandibular dystonia as the chief presentation. Background: We previously described a Korean…Urodynamic findings in a cohort of patients with SCA7 reporting lower urinary tract symptoms
Objective: To evaluate the urodynamic findings in a cohort of patients with Spinocerebellar Ataxia Type 7 (SCA7) reporting lower urinary tract symptoms. Background: SCA7 is…Changes in balance and gait after a single session of combined cerebellum and primary motor cortex transcranial direct current stimulation (tDCS) in a person with SCA1
Objective: To examine whether a single session of cerebellum and motor cortex (tDCS) stimulation associated with specific training of balance skills could change balance and…Multi-tiered Diagnostic Approaches Reveal a High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias: A Retrospective Review of an Australian Cohort
Objective: A retrospective review of the genetic spectrum in an Australian cohort of hereditary cerebellar ataxia (HCA), as well as evaluating HCA’s testing modalities at…Clinico-genetic correlation in Indian Spinocerebellar ataxia Type 1 (SCA1) patients
Objective: To conduct a clinical and genetic analysis of SCA 1 in Indian population. Background: Spinocerebellar ataxia type1 (SCA1) is a neurodegenerative disease caused by…MicroRNAs Unveil Metabolic Imbalance in Spinocerebellar Ataxia Type-2
Objective: To correlate differentially expressed non-coding microRNA of peripheral blood mononuclear cells (PBMCs) with SCA2 pathogenesis. Background: Spinocerebellar ataxia aype-2 (SCA2), the most common SCA…Evaluation of Balance in Hereditary Ataxias
Objective: To describe and compare the vestibular findings most evident among the hereditary ataxia, as well as correlate their clinical aspects to the study of…
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