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Article

Late-onset frontotemporal dementia associated with a novel PGRN mutation.

Journal of neural transmission (Vienna, Austria : 1996) - 1 Jan 2007

Lladó A, Sánchez-Valle R, Reñé R, Ezquerra M, Rey M J, Tolosa E, Ferrer I, Molinuevo J L

Abstract excerpt

We describe a new mutation in the PGRN gene (A303AfsX57) associated with late-onset frontotemporal dementia and with "cat's eye" shaped intranuclear and cytoplasmatic ubiquitin immunoreactive inclusions in the neuropathological exam. The A303AfsX57 mutation is consistent with a nucleotide deletion in exon 8 (c908delC). This deletion causes a frameshift at codon 303 that introduces a premature termination codon...

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PMID: 17417739
DOI: 10.1007/s00702-007-0716-6

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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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