Kertesz Andrew
University of Western Ontario, St. Joseph's Hospital, 268 Grosvenor St. London, Ontario, Canada N6A4V2.
Ideggyogy Sz. 2010 Jan 30;63(1-2):4-12.
A significant expansion of knowledge in the last few years, especially in the molecular biology of frontotemporal dementia (FTD) is summarized. This condition, formerly known as Pick's disease and considered rare, is estimated to be 12-15% of all dementias and 30-50% early onset ones. The clinical picture is protean, mainly a behavioural and language impairment, but the extrapyramidal syndromes of CBD and PSP also belong. These seemingly different presentations converge, as one or other areas in the brain are affected. Less than half of the cases are tauopathies, the majority has been discovered to have a TDP-43 and most recently a FUS proteinopathy, shared with ALS, opening potential opportunities for pharmacological approaches to treatment. Tau and progranulin mutations on Ch-17 and some others, point to molecular mechanisms. A glossary is provided to navigate the complex terminology.
本文总结了过去几年中知识的显著扩展，尤其是额颞叶痴呆（FTD）分子生物学方面的知识。这种疾病以前被称为匹克氏病，被认为较为罕见，据估计在所有痴呆症中占12 - 15%，在早发性痴呆症中占30 - 50%。其临床表现多样，主要是行为和语言障碍，但皮质基底节变性（CBD）和进行性核上性麻痹（PSP）的锥体外系综合征也包括在内。由于大脑中的一个或其他区域受到影响，这些看似不同的表现会趋于一致。不到一半的病例是tau蛋白病，大多数已被发现患有TDP - 43蛋白病，最近还发现了与肌萎缩侧索硬化症（ALS）共有的FUS蛋白病，这为药物治疗方法带来了潜在机会。17号染色体上的tau蛋白和原颗粒蛋白突变以及其他一些突变，指向了分子机制。文中提供了一个术语表以帮助理解复杂的术语。
