Journal
JOURNAL OF NEURAL TRANSMISSION
Volume 114, Issue 8, Pages 1051-1054Publisher
SPRINGER WIEN
DOI: 10.1007/s00702-007-0716-6
Keywords
frontotemporal lobar degeneration; PGRN; ubiquitin; neuronal intranuclear inclusions; frameshift mutation
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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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