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…Metoclopramide-induced acute dystonic reaction caused by CYP2D6 *4/*4 and CYP2D6 *10/*10 genotypes
Objective: Objective is to demonstrated the role of CYP P450 2D6 polymorphisms in metoclopramide-induced acute dystonic reactions. Background: Metoclopramide can induce acute extrapyramidal reactions by…Mosaic divergent repeat interruptions in X-linked dystonia-parkinsonism: stability over generations and time
Objective: This study aims to investigate the stability of Mosaic Divergent Repeat Interruptions affecting motif Length and Sequence (mDRILS) frequencies and repeat length across generations…Dystonia as presenting feature of Witteveen-kolk Syndrome
Objective: To describe the clinical heterogeneity and expand the phenotypic spectrum of Witteveen- Kolk syndrome Background: Witteveen-Kolk syndrome (WITKOS) is a neurodevelopmental condition, first described…Case report of atypical PKAN expressed in late sixth-decade
Objective: We report a case of atypical PKAN expressed in late adulthood with a typical radiologic finding and genetic confirmation. Background: Pantothenate-kinase-associated neurodegeneration (PKAN) is…DYT1 gene mutation: an atypical presentation with myoclonic dystonia
Objective: In the present work, we describe the case of a 54 years old man who presented a young-age onset (7-8 years old) of unilateral…Striatal neurodegeneration in female carriers of the TAF1 Mutation Causing X-linked Dystonia-Parkinsonism
Objective: To determine whether structural brain changes are present in female carriers (MC) of the TAF1 pathogenic change causing X-linked dystonia-parkinsonism (XDP). Background: XDP is an X-linked…Exome-wide and Mitogenome Sequencing of Indian Dystonia Patients
Objective: To identify whole exome and mitochondrial genome mutation spectrum of dystonia in India and to establish clinical significance of mutations by phenotype-genotype correlation. Background:…
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