VPS13A Disease: 15 Years of Illness Awaiting a Diagnosis
Objective: Objective. Diagnosing a disease with movement disorders is not always easy. It is even more difficult when there is a family history of hereditary…Binge-eating as an Initial Presentation for the Diagnosis of Chorea-acanthocytosis
Objective: - Background: Chorea-acanthocytosis (ChAc) is an autosomal recessive disorder associated with mutations or deletions in the VPS13A gene on chromosome 9q21, which codes for…Marked intrafamilial phenotypic variability in VPS13A disease: a case series of three siblings
Objective: To describe a case series of neuroacanthocytosis in three siblings from the same family with the same pathogenic VPS13A nonsense mutation, highlighting the marked…Clinical and genetic profiles of patients with Huntington’s disease and other hereditary choreas: Experience from an Indian Movement Disorder Clinic.
Objective: The primary aim was to describe the clinical and genetic profiles of patients with suspected hereditary chorea. Secondary aims included investigating the genetic causes…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…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.…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.