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)…Cardiac Autonomic Dysfunction in Patients with Multiple System Atrophy and Spinocerebellar Ataxia: A Comparative Study and Distinctive Machine Learning Model
Objective: To assess the differences of HRV parameters between MSA-C and SCA and their age-matched normal controls and also to use the supervised ML to…Progressive Ataxia in a Young Patient: Atypical Presentation of a Probable Creutzfeldt-Jakob Disease Variant VV1
Objective: To report an unusual presentation of probable Creutzfeldt-Jakob disease (CJD) subtype VV1 in a 27-year-old man. Background: CJD is a rare prion neurodegenerative disorder…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.…Spinocerebellar Ataxia 17 Presenting with Childhood Seizures and Mesial Temporal Lobe Sclerosis
Objective: To report an unusual phenotype of spinocerebellar ataxia 17 (SCA17) with childhood onset epilepsy evolving into asymmetric motor impairment with features of dystonia and…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…Microstructural Changes in the Striatum Correlate With Clinical Symptoms in Wilson Disease
Objective: To evaluate microstructural changes in the dorsal striatum and their correlation with clinical symptoms in Wilson disease (WD). Background: Advanced diffusion models, including Neurite…A young Peruvian woman with a stairs conundrum: Scapuloperoneal spinal muscular atrophy (SPSMA) due to a TRPV4 mutation case report
Objective: To make the first case report of SPSMA associated with TRPV4 gene mutation in the Peruvian population presented in a young Peruvian woman. Background:…AOA1 Versus AOA2 : A Comparative Study Of A Tunisian Cohort
Objective: The aim of our study is to compare the epidemiological, clinical, paraclinical and follow-up features of AOA1 and AOA2 in order to identify distinctive…Three Siblings with Progressive Cerebellar Ataxia Associated with a Rare PRKCG Variant
Objective: We report three siblings with late-onset, slowly progressive cerebellar ataxia associated with a c.475G>A (p.Gly159Arg) missense variant in the PRKCG gene. Background: Spinocerebellar ataxia type 14…
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