DYT-KMT2B generalized dystonia managed with GPi-DBS
Objective: The phenotypic spectrum in dystonic syndromes in childhood is wide. Mutations in KMT2B gene were first described in 2016 and it means mutations in…Clinical Outcomes and Local Field Potential Characteristics in Bilateral GPi DBS in 2 cases of X-Linked Dystonia Parkinsonism
Objective: We describe clinical outcomes and local field potential characteristics in 2 cases of fulminant onset XDP who went on to have bilateral GPi DBS…Rapidly Progressive Pallidopyramidal Syndrome related to Parkin gene mutation
Objective: To describe a case of rapidly progressive Pallidopyramidal syndrome related to Parkin gene mutation. Background: Parkin gene mutations are most commonly found in autosomal…Common Genotypes Of Dystonia and Response To DBS; Tertiary Center Experience
Objective: This study aims to evaluate the impact of deep brain stimulation (DBS) on monogenic dystonia. Background: Monogenic dystonia is a heterogenic group of disorders…KMT2B-Related Dystonia And DBS: Tertiary Center Experience
Objective: This study aims to evaluate the functional outcomes and effectiveness of deep brain stimulation (DBS) in patients with genetic dystonia secondary to a KMT2B …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…Kinematic Features of Voluntary and Involuntary Head Movements in Cervical Dystonia
Objective: To identify kinematic metrics that characterise and differentiate the motor manifestations of Cervical Dystonia (CD). Background: Motor manifestations of CD include phasic torsional movements,…Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia
Objective: The aim is to identify the missing genetic causes of Paroxysmal Kinesigenic Dyskinesia (PKD) Background: Although the group of genes associated with PKD is…A Rare Case Of Young Onset Ataxia: Spinocerebellar Ataxia Type 40
Objective: Spinocerebellar ataxias a heterogeneous group autosomal dominant neurodegenerative diseases with the main clinical feature of ataxia. Among various types, spinocerebellar ataxia type 40 (SCA40)…Risk Tolerance of Therapeutic Interventions in People with Parkinson’s Disease
Objective: To determine the sociodemographic factors of people with Parkinson’s disease (PD) associated with risk tolerance when considering interventions. Background: Gender and racial disparities in…
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