期刊
NEUROBIOLOGY OF AGING
卷 30, 期 11, 页码 1825-1833出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.neurobiolaging.2008.01.005
关键词
Frontotemporal dementia; PSEN1 mutation; Atypical dementia; DHPLC; PGRN mutation
资金
- Regional Health Department-Calabria Region
- Italian Health Ministery
Background: Frontotemporal dementia is a clinically and genetically heterogeneous syndrome. Mutations in two genes, Microtubule Associated Protein Tau (MAPT) and Progranulin (PGRN), and rarely Presenilin mutations, have been causally linked to this disorder. Objective: To investigate the presence of PGRN, PSEN1, PSEN2 and APP mutations in a group of familial early-onset frontotemporal dementia (f-EOFTD) patients negative for MAPT gene mutations. Subjects and methods: We prospectively studied 17 unrelated subjects diagnosed with f-EOFTD (one case neuropathologically confirmed as FTD-Ub+). Among these subjects eight belonged to eight autosomal dominant families unrelated to each other, and nine had at least one first degree relative affected by dementia. Results: We identified two novel heterozygous mutations in two unrelated patients, Cys139Arg in the PGRN gene and Val412Ile in the PSEN1 gene. Conclusions: Early-onset f-FTD remains a heterogeneous disorder from a genetic point of view. PGRN mutation frequency was low in our sample. The presence of a novel PSEN1 mutation suggests that presenilin molecular studies should be per-formed when screening for MAPT and PGRN genes is negative. (C) 2008 Elsevier Inc. All rights reserved.
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