Late-onset frontotemporal dementia associated with a novel PGRN mutation.
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).
Lladó
A
A
Alzheimer's Disease and Cognitive Disorders Unit, Neurology Service, Hospital Clínic and Institut d'Investigació Biomèdica August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
Sánchez-Valle
R
R
Reñé
R
R
Ezquerra
M
M
Rey
M J
MJ
Tolosa
E
E
Ferrer
I
I
Molinuevo
J L
JL
D017668:Age of Onset; D000368:Aged; D001344:Autopsy; D001921:Brain / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology; D018389:Codon, Nonsense / Q000235:genetics; D004252:DNA Mutational Analysis; D003704:Dementia / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D017809:Fatal Outcome; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D005625:Frontal Lobe / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D045586:Intranuclear Inclusion Bodies / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D009474:Neurons / Q000378:metabolism / Q000473:pathology; D000077153:Progranulins; D025801:Ubiquitin / Q000378:metabolism
D018389:Codon, Nonsense; C492314:GRN protein, human; D005819:Genetic Markers; D036341:Intercellular Signaling Peptides and Proteins; D000077153:Progranulins; D025801:Ubiquitin