Monogenic Dystonia and Deep Brain Stimulation: Single Center Experience
Objective: The aim of this study was to retrospectively assess the efficacy of deep brain stimulation in patients with confirmed monogenic dystonia. Background: Treatment of…PFBC and dystonia: description of a cohort and peculiar cases
Objective: To describe dystonia in a PFBC cohort Background: Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder characterized by calcium deposition in basal…Chromosomal Microarray Analysis for genetic evaluation of dystonia
Objective: To identify copy number variants (CNVs) associated with isolated or combined dystonia in Indian patients using chromosomal microarray analysis (CMA). Background: Chromosomal aberrations, especially…Association of NOTCH2NLC repeat expansions with dystonia
Objective: We aimed to investigate whether NOTCH2NLCGGC repeats have a role in dystonia. Background: Expanded GGC repeatin the 5' untranslated region of the NOTCH2NLCgene has been identified…Voice- tremor in a patient with positive VPS 16 nonsense mutation: Expanding the phenotype
Objective: Reporting a case of voice-tremor in a patient with heterozygous non-sense variation in exon 16 of VPS 16 gene Background: Dystonia-30 is caused by…Case of neuroferritinopathy with isolated dystonic leg cramps and normal neuroimaging
Objective: To describe a case of genetically proven neuroferritinopathy with isolated dystonic leg cramps and normal neuro-imaging. Background: Neuroferritinopathy(NF) is an autosomal dominant condition characterized…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…
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