Genetic Heterogeneity in Chorea-Acanthocytosis Revealed by Varying VPS13A Mutations Within a Consanguineous Family
Objective: To present a case of a chorea-Acanthocytosis patient genetically confirmed within a recognized consanguineous family, yet displaying a distinct mutation within the VPS13A gene.…Ektacytometry in Neuroacanthocytosis
Objective: Here we report two patients with genetically confirmed neuroacanthocytosis (NA) and expand the role of ektacytometry for the assessment of acanthocytes. Background: The main…Spectrum of Non-HD Hereditary Chorea- Case Series from An Indian Movement Disorder Centre
Objective: To identify and characterize the hereditary chorea other than Huntington’s disease (HD) in an Indian movement disorder clinic. Background: Approximately 1-3% of HD phenotypes…Chorea Acanthocytosis Misdiagnosed as Functional Movement Disorder
Objective: To highlight the importance of genetic testing when the clinical symptoms of Chorea Acanthocytosis (ChAc) are misdiagnosed as functional movement disorder (FMD). Background: ChAc…Feeding dystonia revealing Huntington’s disease, about a case
Objective: Feeding dystonia is rare disorder represented by Spontaneous tongue protrusion and lip bites, classically present during eating, resulting in throwing out food bolus (1).…Disorder of bulk lipid transfer? Lipid composition and distribution in cellular models of VPS13A disease
Objective: To study the overall lipid composition and distribution in red blood cells (RBCs) and neurons derived from VPS13A disease patients, a neurodegenerative disorder associated…Calcium phenotype in cellular models of VPS13A disease
Objective: Since the Membrane contact sites (MCS) between ER and mitochondria are of particular importance for cellular calcium homeostasis, we hypothesize that MCS dysfunction in…A rare case of Hyperkinetic Movement disorder
Objective: We present a case of hyperkinetic movement disorder in a 47 year old male with 3 year history of behavioural changes, chorea and dystonia…Bilateral Globus Pallidus interna Deep Brain Stimulation for the treatment of chorea-acanthocytosis: A case report from South Africa
Objective: We report on the efficacy of bilateral Globus pallidus interna deep brain stimulation as a treatment for Chorea-acanthocytosis (ChAc). Background: ChAc is an autosomal…The Impact of DBS on Chorea- Acanthoctosis: Case Report
Objective: Chorea-acanthocytosis (ChAc) is the most common subtype of neuroacanthocytosis syndrome, characterized by the presence of misshaped spiky red blood cells (acanthocytes) and associated neurological…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.