Mukherjee, Odity

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