HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin. [electronic resource]
- Annals of neurology Sep 2006
- 314-22 p. digital
Publication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
0364-5134
10.1002/ana.20963 doi
Adult Aged Aged, 80 and over Aspartic Acid--genetics Chromosomes, Human, Pair 17 DNA Mutational Analysis--methods Dementia--genetics Family Health Female Genetic Predisposition to Disease Humans Immunohistochemistry--methods Inclusion Bodies--metabolism Intercellular Signaling Peptides and Proteins--genetics Male Middle Aged Mutation, Missense Neuropsychological Tests--statistics & numerical data Ubiquitin--metabolism Valine--genetics tau Proteins--metabolism