Produção Nacional
Revisado por pares
Chorea-acanthocytosis: Report of two Brazilian cases
2008; Wiley; Volume: 23; Issue: 14 Linguagem: Inglês
10.1002/mds.22305
ISSN1531-8257
AutoresGuilherme Riccioppo Rodrigues, Ruth H. Walker, Benedikt Bader, Adrian Danek, Wilson Marques, Vítor Tumas,
Tópico(s)Metabolism and Genetic Disorders
ResumoAbstract 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. © 2008 Movement Disorder Society
Referência(s)