title: Chorea-acanthocytosis: report of two Brazilian cases.
abstract: Chorea-acanthocytosis (ChAc) is a neurodegenerative disorder characterized by chorea, neuropsychiatric disturbances and acanthocytosis, caused by mutations of VPS13A. This gene produces the protein chorein which is absent in patients with ChAc on Western blot assay. We report the first two Brazilian patients with ChAc confirmed by chorein detection. Patient 1 is a 36-year-old man with chorea, epilepsy, myopathy, and suicidal ideation. Patient 2 is a 60-year-old woman with a 30 year history of psychiatric disturbances, epilepsy, choreic movements, and myopathy. Both patients had acanthocytosis, elevated creatine kinase (CK), and absence of chorein on Western blot analysis. The presence of chorea and neuropsychiatric disturbances associated with elevated CK levels, epilepsy, hyporeflexia, and acanthocytosis suggests the diagnosis of ChAc. Chorein assay of peripheral blood confirms the diagnosis.
authors.affiliation: Department of Neurology, Ribeirao Preto School of Medicine, Ribeirao Preto, Brazil.
authors.forename: Guilherme Riccioppo
authors.initials: GR
authors.lastname: Rodrigues
authors.forename: Ruth H
authors.initials: RH
authors.lastname: Walker
authors.forename: Benedikt
authors.initials: B
authors.lastname: Bader
authors.forename: Adrian
authors.initials: A
authors.lastname: Danek
authors.forename: Wilson
authors.initials: W
authors.lastname: Marques
authors.forename: Vitor
authors.initials: V
authors.lastname: Tumas
mesh_terms: D000050:Acanthocytes / Q000473:pathology*; D000328:Adult; D001938:Brazil; D002819:Chorea / Q000150:complications* / Q000473:pathology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D033921:Vesicular Transport Proteins / Q000378:metabolism
chemical_list: C429654:VPS13A protein, human; D033921:Vesicular Transport Proteins