Chorea-acanthocytosis: report of two Brazilian cases.
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.
Rodrigues
Guilherme Riccioppo
GR
Department of Neurology, Ribeirao Preto School of Medicine, Ribeirao Preto, Brazil.
Walker
Ruth H
RH
Bader
Benedikt
B
Danek
Adrian
A
Marques
Wilson
W
Tumas
Vitor
V
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
C429654:VPS13A protein, human; D033921:Vesicular Transport Proteins