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Late-onset frontotemporal dementia associated with a novel |
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| Authors: | A. Lladó R. Sánchez-Valle R. Reñé M. Ezquerra M. J. Rey E. Tolosa I. Ferrer J. L. Molinuevo |
| Affiliation: | (1) Alzheimer’s Disease and Cognitive Disorders Unit, Neurology Service, Hospital Clínic and Institut d’Investigació Biomèdica August Pi i Sunyer (IDIBAPS), Barcelona, Spain;(2) Unitat de Diagnòstic i Tractament de les Demències, Servei de Neurologia, Hospital Universitari de Bellvitge, Barcelona, Spain;(3) Parkinson’s Disease and Movement Disorders Unit, Neurology Service, Hospital Clínic and Institut d’Investigació Biomèdica August Pi i Sunyer (IDIBAPS), Barcelona, Spain;(4) Brain Bank, University of Barcelona/Hospital Clínic, Barcelona, Spain |
| Abstract: | Summary 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). |
| Keywords: | : Frontotemporal lobar degeneration PGRN ubiquitin neuronal intranuclear inclusions frameshift mutation |
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