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…A novel compound heterozygous PANK2 gene mutation in a South- Asian sexagenarian with atypical PKAN
Objective: To study the clinical course, imaging and genetics of a case of late-onset dystonia-parkinsonism suspected to have Neurodegeneration with Brain Iron Accumulation (NBIA). Background:…Whole genome sequencing aids in diagnosing GCH1 dopa responsive dystonia in two Peruvian patients and influences medical management
Objective: To describe the clinical features and treatment response of two Peruvian patients with GHC1 dopa responsive dystonia diagnosed by whole genome sequencing. Background: Pathogenic variants in…Diagnosis and management of Myoclonus Dystonia Syndrome: a Survey of the European Reference Network for Rare Neurological Diseases.
Objective: To evaluate the diagnostic and treatment strategies in Myoclonus Dystonia Syndrome (MDS) used by experts from the European Reference Network for rare neurological diseases…MDSGene systematic review on dopa-responsive dystonia caused by mutations in GCH1, TH, SPR, PTS, or QDPR
Objective: To systematically review information regarding genotype, phenotype, and biochemistry in dopa-responsive dystonia (DRD). Background: To date, five causative genes (GCH1, TH, SPR, PTS, and…A Child with Fever-Induced Paroxysmal Weakness and Encephalopathy with ATP1A3 mutation
Objective: We describe a case of fever-induced paroxysmal weakness and encephalopathy (FIPWE), also known as relapsing encephalopathy with cerebellar ataxia (RECA) and expand the phenotypic…Whole-Exome Sequencing in a Movement Disorders Clinic
Objective: To evaluate the diagnostic utility of whole-exome sequencing (WES) in select patients with a movement disorder. Background: Many patients with suspected genetic movement disorders…
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