Novel heterozygous variant in VPS13A: First case report of choreoacanthocytosis in northern México
Objective: This is the first reported case of choreoacanthocytosis with molecular confirmation in northern Mexico, which also presented a previously unreported variant in genetic databases.…The Importance of a Through Serum Evaluation and Genetic Testing to Avoid Delays in Diagnosis of Chorea-acanthocytosis: A Case Report
Objective: To emphasize the importance of a thorough serum evaluation and genetic testing for new onset chorea to avoid delays in diagnosis of chorea acanthocytosis.…Chorea-acanthocytosis in Puerto Rico: A Case Series
Objective: To describe three unrelated cases of Chorea-acanthocytosis (ChAc) from Puerto Rico, featuring heterozygous and homozygous pathogenic variants Background: ChAc, a rare autosomal recessive neurodegenerative…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…Bilateral Fronto-Temporal Lobar Atrophy: An Atypical Magnetic Resonance Imaging Finding in Neuroacanthocytosis
Objective: In Neuroacanthicytosis,to the best of our knowledge, bilateral fronto-temopral lobar atrophy associated with neuroacanthocytosis has not been reported. We report herein a case of…Choreoacanthocytosis: The First Genetically Confirmed Cases From Algeria
Objective: Here we describe for the first time two unrelated cases of genetically confirmed Choreoacanthocytosis from Algeria. Background: Choreoacanthocytosis is a rare and severe inherited…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.