Diagnostic yield of commercial genetic testing for dystonia in a Canadian movement disorders cohort
Objective: This study aimed to assess the diagnostic yield of commercially available genetic panels in dystonia patients and how test performance varies across dystonia subtypes.…Biallelic Variants in ACER3 Encoding Alkaline Ceramidase 3 Cause Infantile- and Early-Childhood-Onset Neurodegeneration with Progressive Leukodystrophy
Objective: To delineate the clinical phenotype and molecular spectrum of alkaline ceramidase 3 -related disease (ACER3-RD) by characterizing 60 patients from 55 independent families. Background:…A novel homozygous mutation in PANK2 gene mutation in a South- Asian male with typical PKAN
Objective: To study the clinical course, imaging and genetics in a case of early onset generalized dystonia with suspected Neurodegeneration with Brain Iron Accumulation (NBIA).…Atypical presentation of Pantothenate Kinase-Associated Neurodegeneration in two siblings with a PANK-2 gene mutation: A case report and literature review.
Objective: To describe the cases of two siblings diagnosed with Pantothenate Kinase-Associated Neurodegeneration (PKAN) with mutations in the PANK2 gene. Background: PKAN is part of…The Diagnostic Dilemma in ATP7B Heterozygosity
Objective: We aim to address the uncertainties surrounding the genotype-phenotype correlation in ATP7B pathogenic mutations, particularly with a focus on heterozygous carriers, challenging the traditionally…Atypical Onset and Presentation of Rare DYT30-VPS16 Dystonia
Objective: To provide a description of a young patient with atypical onset and presentation of rare DYT30-VPS16 dystonia. Background: To date, 44 patients from 31…A Case of SGCE Myoclonus-Dystonia diagnosed in a 70-Year-Old Male
Objective: N/A Background: SGCE myoclonus-dystonia (SGCE-M-D) is a movement disorder characterized by myoclonus and dystonia, primarily affecting the neck, trunk, and upper limbs. Patients may…Rare DYT23 Dystonia, First Diagnosed Case in Ukraine
Objective: To provide a description of a patient with rare DYT23 dystonia. Background: DYT23 type dystonia is characterized by adult-onset, focal cervical dystonia typically manifesting…Case Report of a Brazilian Family With New VUS for PLAN
Objective: The aim is to describe a Brazilian family with new VUS of PLA2G6 in two brothers with clinical symptoms of PLAN. Background: PLAN is…Japanese family of dystonia related to GNAO1 pathogenic variant and systematic literature review
Objective: To present a young adolescent female with functional dystonia phenotype progressed to status dystonia/anarthria and mental confusion, even more molecular genetic of family members…
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