A study on the phenomenological analysis of Spinocerebellar Ataxia type 12 revealing a dystonic imprint
Objective: To assess the presence and distribution of dystonia in spinocerebellar ataxia type 12 (SCA12). Background: SCA12, commonly seen in the Agarwal community in India,…Chorea Acanthocytosis Misdiagnosed as Functional Movement Disorder
Objective: To highlight the importance of genetic testing when the clinical symptoms of Chorea Acanthocytosis (ChAc) are misdiagnosed as functional movement disorder (FMD). Background: ChAc…Motor and Quality of Life Outcomes of Deep Brain Stimulation for Pediatric Dystonia – CHILD-DBS Registry
Objective: To evaluate the motor and quality of life (QoL) outcomes of deep brain stimulation for pediatric dystonia with the following parameters: BFMDRS, total number…Intrafamilial phenotypic variability of DYT-ANO3: Analyzing 14 affected members with a novel variant
Objective: Delineation of phenotypic diversity of DYT-ANO3 in a large tribal family of Indian origin. Background: DYT-ANO3 (DYT24) is a rare cause of autosomal dominant…The Yips in Golf: Is it a Task-Specific Dystonia ?
Objective: The aim of this study is to classify the phenomenology of the Yips in Golf and investigate what underlies this anomalous movement by answering…Neural Signatures of Laryngeal Dystonia during Asymptomatic Tasks of Sequential and Learned Finger-Tapping
Objective: To investigate brain activity in laryngeal dystonia (LD) patients compared to healthy controls during asymptomatic motor tasks of sequential and learned finger-tapping, as well…Amyloid Pathology and its association with Cognitive Status in Huntington’s Disease
Objective: To investigate the presence of beta-amyloid pathology in Huntington's disease (HD) and its potential impact on patients' cognitive status. Background: Recent evidence indicates that…Correlation Between Low Hemoglobin Levels and Gait Dysfunction in Huntington’s Disease: An Exploratory Study
Objective: This study investigates the association between hemoglobin levels and the manifestation of gait dysfunction in individuals with Huntington's disease (HD). Background: Huntington's disease is…Deep Brain Stimulation for Post-Hypoxic Myoclonus: A Case Correlating Local Field Potentials to Clinical Outcome
Objective: To correlate local filed potential (LFP) spectral data with clinical improvement of the Unified Myoclonus Rating Scale (UMRS) in post-hypoxic myoclonus (PHM) syndrome treated…A case of Restless Abdominal Syndrome An Uncommon Variant of Restless Leg Syndrome
Objective: To identify restless abdominal syndrome as a potential cause of abdominal discomfort in patients presenting with discomfort in abdominal area which gets worse at…
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