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…The Spectrum of Movement Disorders Associated With NUS1 Pathogenic Variants
Objective: To explore the phenotype of NUS1-related disorders and determine the spectrum of movement disorders in patients with NUS1 pathogenic variants. Background: A growing body…Dopa-responsive Combined Dystonia Due to ATP1A3 Gene Variant
Objective: To describe a remarkable case of a patient with an atypical ATP1A3 phenotype with levodopa responsiveness, expanding our understanding of this gene mutation. Background: The ATP1A3-spectrum disorders…X-Linked Dystonia Parkinsonism as the cause of Isolated Lingual Dystonia (ILD)
Objective: This report aims to describe a 43-year-old Filipino male with ILD aggravated by speech and swallowing. This paper highlights the importance of including XDP…DHDDS and NUS1: A converging pathway and common phenotype
Objective: To report on the clinical spectrum of variants affecting dehydrodolichol diphosphate synthetase (DHDDS) and nuclear undecaprenyl pyrophosphate Synthase 1 (NUS1) and particularly to highlight their…Highlighting the dystonic phenotype related to GNAO1
Objective: To characterize the clinical and genetic features of patients with mild GNAO1-related phenotype with prominent movement disorders. Background: Most reported patients carrying GNAO1 mutations…
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