Novel presentation of PRRT2 with paroxysmal dystonia and responsive to carbidopa/levodopa.
Objective: Present a novel case of PRRT2 positive PKD presenting with paroxysmal dystonia that responded to treatment with carbidopa levodopa. First report in the literature.…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…Deep Brain Stimulation in a Patient with Dystonia-Parkinsonism Secondary to a c.609G>A PLA2G6-Associated Neurodegeneration Variant
Objective: To describe a rare likely pathogenic variant of the PLA2G6 protein and its response to deep brain stimulation (DBS). Background: PLA2G6-associated neurodegeneration (PLAN) can…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 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…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…When Dystonia mimics Multiple Sclerosis : A Familial case series of GCH1 misdiagnosis
Objective: To describe phenotypic variability associated with a GCH1 mutation and increase clinical suspicion in patients with atypical phenotypes. Background: Dopa-responsive dystonia (DRD) is a genetic disorder most commonly…Bilateral Pallidal Deep Brain Stimulation in Secondary Dystonia in Louis-Bar-Syndrome Patients – A Report of Two Cases-
Objective: Deep Brain Stimulation (DBS) is an established treatment for various movement disorders, including primary dystonia. The effect in secondary dystonia is less well studied.…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:…
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