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Article

Clinical, neuropathological, and biochemical characterization of the novel tau mutation P332S.

Journal of Alzheimer's disease : JAD - 1 Jan 2012

Deramecourt Vincent, Lebert Florence, Maurage Claude-Alain, Fernandez-Gomez Francisco-Jose, Dujardin Simon, Colin Morvane, Sergeant Nicolas, Buée-Scherrer Valérie, Clot Fabienne, Ber Isabelle Le, Brice Alexis, Pasquier Florence, Buée Luc

Abstract excerpt

MAPT mutations cause autosomal dominant frontotemporal lobar degeneration. These diseases are characterized by considerable heterogeneity in their clinical, neuropathological, and biochemical presentations. We describe the full characterization of a family with autosomal dominant frontotemporal lobar degeneration caused by a novel MAPT mutation. Clinical, imaging, neuropathological, and biochemical data are...

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Identifiers

PMID: 22699846
DOI: 10.3233/JAD-2012-120160

Genes

MAPT

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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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