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Article

Clinical, neuropathological, and genetic characteristics of the novel IVS9+1delG GRN mutation in a patient with frontotemporal dementia.

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

Taipa Ricardo, Tuna Assunção, Damásio Joana, Pinto Pedro S, Cavaco Sara, Pereira Sonia, Milterberger-Miltenyi Gabriel, Galimberti Daniela, Melo-Pires Manuel

Abstract excerpt

Frontotemporal lobar degeneration (FTLD) refers to a clinically, pathologically, and genetically heterogeneous group of dementias that arises from the degeneration of the frontal and temporal lobes. Mutations in the progranulin gene (GRN) are a major cause of FTLD with TDP-43 inclusions. Herein, we describe the clinical, neuropathological, and genetic findings in a case of autosomal dominant behavioral variant of...

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Identifiers

PMID: 22366770
DOI: 10.3233/JAD-2012-112084

Genes

GRN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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