Chorea-Acanthocytosis: Report of Two Brazilian Cases

被引：13

作者：

Rodrigues, Guilherme Riccioppo ^{[1
]}

Walker, Ruth H. ^{[2
,3
]}

Bader, Benedikt ^{[4
]}

Danek, Adrian ^{[4
]}

Marques, Wilson, Jr. ^{[1
]}

Tumas, Vitor ^{[1
]}

机构：

[1] Ribeirao Preto Sch Med, Dept Neurol, BR-14049900 Ribeirao Preto, Brazil

[2] James J Peters Vet Affairs Med Ctr, Dept Neurol, Bronx, NY USA

[3] Mt Sinai Sch Med, New York, NY USA

[4] Univ Munich, Dept Neurol, D-8000 Munich, Germany

来源：

MOVEMENT DISORDERS | 2008年 / 23卷 / 14期

关键词：

Chorea-acanthocytosis;

D O I：

10.1002/mds.22305

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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 I 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. (C) 2008 Movement Disorder Society

引用

页码：2090 / 2093

页数：4

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