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Article

Intra-familial clinical heterogeneity due to FTLD-U with TDP-43 proteinopathy caused by a novel deletion in progranulin gene (PGRN).

Journal of Alzheimer's disease : JAD - 1 Jan 2010

Gabryelewicz Tomasz, Masellis Mario, Berdynski Mariusz, Bilbao Juan M, Rogaeva Ekaterina, St George-Hyslop Peter, Barczak Anna, Czyzewski Krzysztof, Barcikowska Maria, Wszolek Zbigniew, Black Sandra E, Zekanowski Cezary

Abstract excerpt

Frontotemporal dementia (FTD) is one of the commonest forms of early-onset dementia, accounting for up to 20% of all dementia patients. Recently, it has been shown that mutations in progranulin gene (PGRN) cause many familial cases of FTD. Members of a family affected by FTD spectrum disorders were ascertained in Poland and Canada. Clinical, radiological, molecular, genetic, and pathological studies were...

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Identifiers

PMID: 20930269
DOI: 10.3233/JAD-2010-101413
PMCID: PMC5045304

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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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