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Article

Contrasting genotypes of the tau gene in two phenotypically distinct patients with P301L mutation of frontotemporal dementia and parkinsonism linked to chromosome 17.

Journal of neurology - 1 Jun 2002

Kobayashi Tomonori, Mori Hideo, Okuma Yasuyuki, Dickson Dennis W, Cookson Natalie, Tsuboi Yoshio, Motoi Yumiko, Tanaka Ryota, Miyashita Nobuo, Anno Midori, Narabayashi Hirotaro, Mizuno Yoshikuni

Abstract excerpt

Association between clinical characteristics and types of the tau gene mutation has been observed in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). P301L mutation seldom causes parkinsonism as a leading symptom; instead it usually causes personality changes with aggressiveness and disinhibition. We experienced two patients of FTDP-17 from separate families (designated as patient 1...

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PMID: 12111297
DOI: 10.1007/s00415-002-0687-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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