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Case Reports
. 2007;114(8):1051-4.
doi: 10.1007/s00702-007-0716-6. Epub 2007 Apr 10.

Late-onset frontotemporal dementia associated with a novel PGRN mutation

A Lladó  1 , R Sánchez-Valle, R Reñé, M Ezquerra, M J Rey, E Tolosa, I Ferrer, J L Molinuevo
Affiliations
Case Reports

Late-onset frontotemporal dementia associated with a novel PGRN mutation

A Lladó et al. J Neural Transm (Vienna). 2007.

Abstract

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 (A303AfsX57).

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References

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