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

Alzheimer's Disease and Cognitive Disorders Unit, Neurology Service, Hospital Clínic and Institut d'Investigació Biomèdica August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
Journal of Neural Transmission (Impact Factor: 2.87). 02/2007; 114(8):1051-4. DOI: 10.1007/s00702-007-0716-6
Source: PubMed

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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