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…Genetic Ataxias in Argentina
Objective: To determine the occurrence and frequency of genetic ataxias in Argentina. Background: Genetic ataxias comprise hundreds of disorders with significant phenotypic, genetic, and epidemiological…Clinical and epidemiological characterization of patients with cerebellar ataxia in a reference center in Northeastern Brazil
Objective: To describe the epidemiological and clinical characteristics of patients with cerebellar ataxia in a Movement Disorders outpatient clinic at a public reference center in…Burden of Non-Motor Manifestations in Huntington’s disease patients – A cross-sectional study in a teaching hospital in India.
Objective: Primary objective:- 1) To study the prevalence of non-motor manifestations in Huntington disease.2) To study the correlation between non motor symptoms and Quality of lifeSecondary…A Case of CANVAS Misdiagnosed as Subacute Labyrinthitis and Meniere’s Disease
Objective: To report a case of CANVAS initially misdiagnosed as subacute labyrinthitis and Meniere’s disease, highlighting the diagnostic challenges and the importance of recognizing this…Are we there yet? A Comprehensive Assessment of the Challenges in Standardizing MRgFUS Outcomes in Essential Tremor
Objective: To evaluate heterogeneity of outcomes following magnetic resonance-guided focused ultrasound (MRgFUS) for essential tremor (ET), highlighting differences in assessment time points, thresholds and definitions.…Investigating the most robust predictors of tremor’s severity using a computational image processing pipeline for automated feature extraction
Objective: To investigate the correlation of the machine learning-based tremor extracted features with tremor Research Group Essential Tremor Rating Assessment Scale (TETRAS) and to identify…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)…Quantifying ataxia in RFC1-related disorder using wearable devices
Objective: We aimed to compare standing balance and postural conditions between RFC1 patients and healthy controls. Background: RFC1-related ataxia is a progressive neurological disorder affecting…Outcomes of Focused Ultrasound Referrals at a Movement Disorders Center
Objective: High intensity focused ultrasound (HIFU) referrals to a multidisciplinary movement disorders center can come from many different sources. We aimed to evaluate referrals, based…
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