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…National Survey of DYT/PARK-GCH1 (Segawa Disease) in Japan
Objective: To clarify clinical features of Segawa Disease (SD) in Japan. Background: Prof Segawa discovered SD 50 years ago, and GCH-1 gene mutations were linked…The Dystonia Coalition: Natural History & Biorepository Projects Update
Objective: To describe the available data & biorepository samples that are available to share Background: The Dystonia Coalition (DC) is a multi-site research program of…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 Frontalis Behavioral Trick in Blepharospasm
Objective: To describe clinical features of the frontalis behavioral trick in blepharospasm. Background: Blepharospasm is a form of dystonia that is characterized by stereotyped, bilateral…Delayed Diagnosis of Cervical Dystonia: A Case Report Highlighting the Importance of an on-time Specialist Evaluation
Objective: To present a case of cervical dystonia misdiagnosed as anxiety disorder for five years, emphasizing the critical need for timely recognition and appropriate treatment…The Role of the Immune System in Dystonia: Insights from HLA genotyping
Objective: To characterize the association between Human Leukocyte Antigen (HLA) alleles and dystonia. Background: Dystonia is widely recognized to have great etiologic heterogeneity. A complex…Phenotypic Overlap of CACNA1A-Related Disorders
Objective: To highlight the complex genotype-phenotype associations of CACNA1A-related disorders and demonstrate that clinical presentation may not always align with current genetic classifications. Background: Pathogenic…Dentatorubral–Pallidoluysian Atrophy (DRPLA) : A case series of nine patients from western India
Objective: To study the clinicoradiological and genetic profile of confirmed Dentatorubral–Pallidoluysian Atrophy (DRPLA) cases in Western India Background: DRPLA is a hereditary disease caused due to trinucleotide repeat…Compound Heterozygous VPS13A Variants in a Chilean Chorea-Acanthocytosis Patient
Objective: To present a clinical case of a Chilean ChAC patient with a new compound heterozygous VPS13A variant. Background: Neuroacanthocytosis is a group of genetic…
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