A 37 years-old man with Epilepsy and Progressive Autoimmune Ataxia
Objective: Describe a young patient with medial past history of Epilepsy who started with progressive symptoms of imbalance, vertigo, nausea, oscillopsy and recurrence of seizures.…Spinocerebellar Ataxia 15: The first reported case of SCA15 in Asia secondary to ITPR1 gene mutation
Objective: The objective of this paper is to present the clinical, genetic findings, and inheritance pattern of a family with SCA. Background: Spinocerebellar Ataxia (SCA)…The FGF14-SCA27B GAA•TTC Repeat Shows Marked Somatic Expansion in the Cerebellum
Objective: To characterize somatic instability and molecular mechanisms of the FGF14 GAA•TTC repeat across serial blood samples, fibroblasts, induced pluripotent stem cells (iPSCs), and post-mortem brains. Background: Spinocerebellar…Beyond the Classic Triad: An Unusual Phenomenology of Parkinsonism in a Patient with Superficial Siderosis (SS)
Objective: To highlight the phenomenology in a complex case of superficial siderosis (SS) presenting with hearing loss, ataxia, and parkinsonism Background: SS is a rare…A Clinical Overlap Presentation of Episodic Ataxia Type 2 and Periodic Paralysis with a Novel Mutation in CACNA1A
Objective: To describe a case of episodic ataxia type 2 (EA2) with features of periodic paralysis (PP) associated with a novel mutation in CACNA1A. Background:…Oculomotor Abnormalities in Spinocerebellar Ataxia Type-12: A Functional Neuroimaging Study
Objective: This study aimed to investigate eye movements, specifically dysmetric saccades and cerebellar nystagmus, in Spinocerebellar Ataxia Type-12 (SCA12) using functional magnetic resonance imaging (fMRI)…Brain Structural Impairment in Spinocerebellar Ataxia Type 6: Not Restricted to the Cerebellum
Objective: To characterize the structural brain signature in SCA6 patients. Background: Spinocerebellar ataxias (SCA) refer to a group of autosomal dominant ataxic disorders that result…Functional and Biomechanical characterization through the progression of Parkinson’s Disease
Objective: To describe clinical, electromyographic, and gait kinematic parameters throughout Parkinson’s disease (PD) progression Background: PD is the second most prevalent neurodegenerative disease worldwide. Classic…Compound Heterozygous SCA17 in a Vietnamese Patient
Objective: We seek to report the first instance of Spinocerebellar Ataxia Type 17 (SCA17) in a Vietnamese patient with a compound heterozygous mutation in the…Friedreich Ataxia Versus Ataxia With Vitamin E Deficiency : A Comparative Study Of Electrophysiological Features
Objective: Our aim is to compare the electrophysiological features of FRDA and AVED in order to identify distinctive characteristics of both diseases. Background: Autosomal recessive…
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