Chorea–Acanthocytosis and the Huntington Disease Allele in an Irish Family

Tremor and Other Hyperkinetic Movements

article

Olwen C. Murphy¹  Orna O’Toole²  Collette K. Hand³  Aisling M. Ryan¹ 

[1] Department of Neurology, National Neuroscience Centre, Cork University Hospital;Department of Neurology, Mercy University Hospital;Department of Pathology, University College Cork

关键词: Chorea–acanthocytosis;    neuroacanthocytosis;    Huntington disease;    chorea;    epilepsy;   

DOI  :  10.5334/tohm.433

学科分类：社会科学、人文和艺术（综合）

来源: Ubiquity Press

【 摘 要 】

The presence of peripheral blood film acanthocytes can help narrow the differential diagnosis of a familial choreiform disorder. Acanthocytosis is associated with chorea–acanthocytosis (ChAc), McLeod syndrome, pantothenate kinase-associated neurodegeneration (PKAN), and Huntington’s disease-like 2 (HDL-2).1 Huntington disease (HD) can present at a similar age with a similar phenotype, but without acanthocytosis. We report the cases of three adult siblings with genetically confirmed ChAc, and discuss the unusual finding of a co-existing abnormal HD allele (CAG repeat expansion in the range of reduced penetrance) in two of these siblings.

【 授权许可】

CC BY