Sikkink Stephen, Rollinson Sara, Pickering-Brown Stuart M
Clinical Neurosciences, University of Manchester, Manchester, UK.
Curr Opin Neurol. 2007 Dec;20(6):693-8. doi: 10.1097/WCO.0b013e3282f1c961.
This review addresses the latest developments in the genetics of frontotemporal lobar degeneration. 'Frontotemporal lobar degeneration' is the clinical term used to describe a heterogeneous neurodegenerative syndrome that includes frontotemporal dementia, semantic dementia, progressive nonfluent aphasia and progressive apraxia. Up to 40% of patients with frontotemporal lobar degeneration have a family history of a similar disorder in a first-degree relative, highlighting a significant genetic contribution to the aetiology of this disorder.
Four genes that cause autosomal frontotemporal lobar degeneration have already been identified, including two that are only 1.7 megabases apart on chromosome 17.
Although much progress has been made in our understanding of the genetics of frontotemporal lobar degeneration in recent years, the majority of the genetic causes of this syndrome remains to be identified.
本综述阐述额颞叶变性遗传学的最新进展。“额颞叶变性”是一个临床术语，用于描述一种异质性神经退行性综合征，包括额颞叶痴呆、语义性痴呆、进行性非流利性失语和进行性失用症。高达40%的额颞叶变性患者在一级亲属中有类似疾病的家族史，这突出了遗传因素在该疾病病因中所起的重要作用。
已经鉴定出四个导致常染色体显性额颞叶变性的基因，其中两个基因在17号染色体上仅相距170万个碱基对。
尽管近年来我们对额颞叶变性遗传学的理解取得了很大进展，但该综合征的大多数遗传病因仍有待确定。
