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Pick's disease pathology of a missense mutation of S305N of frontotemporal dementia and parkinsonism linked to chromosome 17: another phenotype of S305N.

Dementia and geriatric cognitive disorders - 1 Jan 2004

Kobayashi Katsuji, Hayashi Masahiro, Kidani Tomokazu, Ujike Hiroshi, Iijima Masaaki, Ishihara Takeshi, Nakano Hiroyuki, Sugimori Kaoru, Shimazaki Masao, Kuroda Shigetoshi, Koshino Yoshifumi

Abstract excerpt

We report the second phenotype of frontotemporal dementia and parkinsonism linked to chromosome 17 with S305N similar to Pick's disease pathology in two brothers. The brain of the older brother showed macroscopic atrophy compatible with Pick's disease, and subsequent tau gene analysis revealed heterozygous S305N mutation in exon 10 of the tau gene. Round-shaped neuronal inclusions similar to Pick's bodies were...

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PMID: 15178939
DOI: 10.1159/000077157

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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