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Chorea-acanthocytosis: Report of two Brazilian cases

โœ Scribed by Guilherme Riccioppo Rodrigues; Ruth H. Walker; Benedikt Bader; Adrian Danek; Wilson Marques Jr; Vitor Tumas

Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
228 KB
Volume
23
Category
Article
ISSN
0885-3185

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โœฆ Synopsis

Abstract

Choreaโ€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 36โ€yearโ€old man with chorea, epilepsy, myopathy, and suicidal ideation. Patient 2 is a 60โ€yearโ€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. ยฉ 2008 Movement Disorder Society

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