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Article

Frontotemporal dementia and parkinsonism associated with the IVS1+1G->A mutation in progranulin: a clinicopathologic study.

Brain : a journal of neurology - 1 Nov 2006

Boeve Bradley F, Baker Matt, Dickson Dennis W, Parisi Joseph E, Giannini Caterina, Josephs Keith A, Hutton Michael, Pickering-Brown Stuart M, Rademakers Rosa, Tang-Wai David, Jack Clifford R, Kantarci Kejal, Shiung Maria M, Golde Todd, Smith Glenn E, Geda Yonas E, Knopman David S, Petersen Ronald C

Abstract excerpt

We previously reported a kindred with three cases of dementia, in which the proband exhibited features typical of frontotemporal dementia and parkinsonism (FTDP). An arginine insertion at codon 352 (insR352) in the presenilin-1 (PSEN1) gene was identified in the proband, but analyses in plasma an...

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Identifiers

PMID: 17030535
DOI: 10.1093/brain/awl268

Genes

PSEN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-17030535-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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