FTLDU is a form of frontotemporal dementia (FTDs) (MIM.600274) characterized specifically by the absence of tau (MAPT) immunoreactivity and the presence of ubiquitin-positive inclusions.
FTLDU is a pathologic diagnosis; not all patients with FTLDU have GRN mutations.
FTLDU has variable phenotypic expression but most commonly presents with social, behavioral, or language deterioration, rather than memory or motor deficits.
Other variations of the phenotype have been referred to as ’dysphasic disinhibition dementia’ and ’primary progressive aphasia’ (PPA).
Etiology
Frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLDU) is caused by mutation in the GRN gene encoding progranulin (MIM.138945).
See also
TARDP
