Slowly progressive dementia caused by MAPT R406W mutations: longitudinal report on a new kindred and systematic review.

ABSTRACT: BACKGROUND:The MAPT c.1216C > T (p.Arg406Trp; R406W) mutation is a known cause of frontotemporal dementia with Parkinsonism linked to chromosome 17 tau with Alzheimer's disease-like clinical features. METHODS:We compiled clinical data from a new Swedish kindred with R406W mutation. Seven family members were followed longitudinally for up to 22 years. Radiological examinations were performed in six family members and neuropathological examinations in three. We systematically reviewed the literature and compiled clinical, radiological, and neuropathological data on 63 previously described R406W heterozygotes and 3 homozygotes. RESULTS:For all cases combined, the median age of onset was 56 years and the median disease duration was 13 years. Memory impairment was the most frequent symptom, beh

SUBMITTER: Ygland E 

PROVIDER: S-EPMC6389050 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature