Improving Work Up amongst Patients with Rare Movement Disorders according to Diagnostic Yield Findings– Update from Single Center Neurogenetic Clinic
Objective: We present the genetic testing diagnostic yield in a tertiary center Neurogenetic Clinic, focusing on rare movement disorders. Background: The diagnostic yield of genetic…Prevalence of Heterozygous ATP7B Mutation in Patients with Movement Symptoms
Objective: The objective of our study is to elucidate the prevalence of heterozygous ATP7B mutation in patients with movement symptoms. We aim to determine whether…Bi-allelic BORCS5 Variants Result In A Wide Spectrum of Progressive Neurodevelopmental Disorders via Lysosomal Dysfunction
Objective: To characterize a new brain disorder associated with BORCS5 variants, elucidating their effect on lysosomal distribution and activity Background: BORCS5 encodes a subunit of…Spinocerebellar Ataxia Type 49 presenting with Early onset Dystonia-Ataxia in an Indian Female
Objective: To report the first Indian patient with SCA 49 who presented in the second decade and to expand the clinical phenotype to include dystonic…Complex Movement Disorders in Late Onset TPP1 Gene Mutation (Atypical Neuronal Ceroid Lipofuscinosis Type 2)
Objective: To describe an atypical late onset phenotypical presentation of a homozygous TPP1 mutation with complex movement disorders. Background: TPP1 mutations, lead to deficiency of…An Unusual and Treatable Cause of Cerebellar Ataxia and Dystonia: Homozygous COQ4 Gene Mutation
Objective: To report a case of Coenzyme Q10 (CoQ10) deficiency due to COQ4 variants causing adult-onset ataxia and dystonic postures. Background: CoQ10 is an essential…Readiness for genetic testing among Indian movement disorder patients:A tertiary centre experience
Objective: To assess knowledge & attitude of Indian patients with movement disorders and their caregivers to understand their readiness for genetic testing. Background: Genetic testing…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…Young onset Dystonia-Parkinsonism, Intellectual Disability & Mineral deposits in Basal ganglia – Think “RAB39B” mutation
Objective: Please consider RAB39B gene when encountering a young onset dystonia Parkinson phenotype alongside non-progressive intellectual disability and brain mineral deposits. This consideration is crucial…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…
- « Previous Page
- 1
- 2
- 3
- 4
- …
- 26
- Next Page »