Japanese Familial Cases of Frontotemporal Dementia and Parkinsonism with N279K Tau Gene Mutation.

ABSTRACT:

Background

Mutations in the tau gene linked to chromosome 17 cause frontotemporal dementia and parkinsonism (FTDP-17).

Objective

This study presents 3 Japanese familial cases diagnosed with N279K tau gene mutation, including 1 autopsy-confirmed case.

Methods

We compared the clinical presentations, cognitive functions, and images between the 3 familial cases diagnosed with N279K mutation.

Results

All 3 patients presented symptoms in their early 40s. One patient showed severe cognitive dysfunction and died in his sixth year after onset. The remaining 2 cases presented with parkinsonism-dominant clinical features. Among the 2 cases, 1 presented the characteristic symptoms of progressive supranuclear palsy. The pathological features of the dementia-dominant case sh

SUBMITTER: Oka Y 

PROVIDER: S-EPMC7780954 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature