Dystonia associated with fluoxetine in a patient, CYP2D6*4/*4 (poor) metabolizer: role of drug-drug interactions
Objective: to present a poor metabolizer patient carrying CYP2D6*4/*4 genotype manifesting dystonia associate to fluoxetine therapy Background: Major side effect of antipsychotics is acute dystonic…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…Challenges in Wilson disease management in a resource-limited country: a case report from a tertiary center
Objective: To describe a Wilson disease (WD) case report with severe neurological manifestations who was successfully treated with zinc salt monotherapy, due to unavailability of…Mutation of the ATP5F1A gene associated with dystonia, spasticity, myoclonus, cognitive impairment and epilepsy – a rare case report of a patient
Objective: We present a patient with generalized dystonia with spasticity, craniofacial dysmorphism and myoclonus on the left upper limb due to mutation of the ATP5F1A…A 24-year-old female with 18p deletion syndrome presenting with rapidly worsening dystonia
Objective: To describe a case of rapidly worsening dystonia in 18p deletion syndrome. Background: 18p deletion syndrome resulting from deletion of the short arm of…Unraveling the Complexity of Neurodegenerative Disorders: A Case Report of PKAN Suspected in a 24-Year-Old Patient with Severe Dystonia
Objective: To present a case study of a 24-year-old patient with severe dystonia and cognitive decline, suspected to have Pantothenate Kinase-Associated Neurodegeneration (PKAN), a rare subtype…The Spectrum of Presenting Phenotypes in Childhood Onset Huntingtons Disease
Objective: Childhood-onset Huntington’s disease (HD) is a rare subset of HD with symptom-onset before the age of 18 years. We here detail the presenting movement…
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