一名患有与核纤层蛋白B1重复相关的罕见脑白质营养不良症的患者。
A patient with a rare leukodystrophy related to lamin B1 duplication.
作者信息
Molloy A, Cotter O, van Spaendonk R, Sistermans E, Sweeney B
机构信息
Department of Neurology, Cork University Hospital, Wilton, Cork.
出版信息
Ir Med J. 2012 Jun;105(6):186-7.
PMID:22973660
Abstract
The hereditary leukodystrophies are rare disorders caused by molecular abnormalities leading to destruction of or failure of development of central white matter. For almost 30 years there has been increasing recognition of later onset Autosomal Dominant Leukodystrophy (ADLD). We report the first genetically confirmed case of lamin B1 duplication causing ADLD from Ireland.
摘要
遗传性脑白质营养不良是由分子异常导致中枢白质破坏或发育失败引起的罕见疾病。近30年来，常染色体显性遗传性脑白质营养不良（ADLD）的迟发性越来越受到认可。我们报告了爱尔兰首例经基因证实的由核纤层蛋白B1重复导致的ADLD病例。
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