Genetics of Frontotemporal Dementia

被引：101

作者：

Olszewska, Diana A. ^{[1
]}

Lonergan, Roisin ^{[1
]}

Fallon, Emer M. ^{[1
]}

Lynch, Tim ^{[1
]}

机构：

[1] Mater Misericordiae Univ Hosp, Dublin Neurol Inst, Dept Neurol, Dublin, Ireland

来源：

CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS | 2016年 / 16卷 / 12期

关键词：

Genetics; Frontotemporal dementia; FTDP-17; DDPAC; +15; HEXANUCLEOTIDE REPEAT EXPANSION; PROGRESSIVE SUPRANUCLEAR PALSY; FAMILIAL PRESENILE-DEMENTIA; LOBAR DEGENERATION; TAU GENE; DISINHIBITION-DEMENTIA; CORTICOBASAL DEGENERATION; PROGRANULIN LEVELS; MUTATION CARRIERS; MOUSE MODEL;

D O I：

10.1007/s11910-016-0707-9

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Frontotemporal dementia (FTD) is the second most common cause of dementia following Alzheimer's disease (AD). Between 20 and 50% of cases are familial. Mutations in MAPT, GRN and C9orf72 are found in 60% of familial FTD cases. C9orf72 mutations are the most common and account for 25%. Rarer mutations (<5%) occur in other genes such as VPC, CHMP2B, TARDP, FUS, ITM2B, TBK1 and TBP. The diagnosis is often challenging due to symptom overlap with AD and other conditions. We review the genetics, clinical presentations, neuroimaging, neuropathology, animal studies and therapeutic trials in FTD. We describe clinical scenarios including the original family with the tau stem loop mutation (+14) and also the recently discovered 'missing tau' mutation +15 that 'closed the loop' in 2015.

引用

页数：15

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