Spinocerebellar Ataxia Type 40 (SCA-40) with a Novel Mutation in an Indian Female: A Case Report
Objective: To report the first Indian patient with SCA 40 who presented in the fifth decade with a novel missense mutation (c.1291C>T, p.His431Tyr), expanding the…Awareness and Implementation of Advanced Care Planning in Patients with Neurodegenerative Diseases
Objective: This study aims to evaluate the awareness and implementation of advanced care planning (ACP) in patients with neurodegenerative diseases in Japan. Background: Although ACP…Peripheral neuropathy in Autosomal Recessive Spinocerebellar Ataxia due to ANO10 mutation – Expanding the phenotypic spectrum
Objective: SCAR10/ Adult-onset autosomal recessive cerebellar ataxia is an exceptionally rare form of ataxia, caused by mutations in the ANO10 gene and the specific genotype–phenotypecorrelation…The Unlikely Treatable A Case of Ataxia
Objective: To present the first reported Colombian case in a patient presenting COQ8A-ataxia with bilateral palpebral ptosis, who had a favorable response to CoQ10 supplementation…Anti-Yo Syndrome Presenting as an Isolated Head Tremor with Vertigo
Objective: To highlight the prodromal and syndromic features of Anti-Yo/PCA-1 syndrome. Background: A 50-year-old female initially presented with a 1-month history of headaches and vertigo.…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…SCA27B, an Elusive Diagnosis with Effective Symptomatic Treatment: Two Cases of Late-Onset Progressive and Episodic Cerebellar Ataxia
Objective: We present two cases of late-onset progressive and episodic cerebellar ataxia with prolonged courses of complex diagnostic work-up and management prior to genetic Spinocerebellar…Adult-onset ataxia with oculomotor apraxia type 4 with severe hypoalbuminemia, generalized edema and obesity
Objective: To report a 45-years-old Swedish man born to non-consanguineous parents affected by an adult-onset syndrome that included insidious pain at onset, hypoalbuminemia, edema, severe…Brainstem Subsegmentation in Spinocerebellar Ataxia Type 3 (SCA3)
Objective: The aim of our work is to create a novel protocol for manual subsegmentation of the human brainstem for creating accurate brainstem labels for…Arginase2 – a potential mediator in the pathology of the stratum
Objective: To investigate the effects of arginase 2 (Arg2) loss on the striatal mitochondria. Background: Arginase plays a role in the production of various metabolites…
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