frontotemporal dementia and parkinsonism linked to chromosome 17
frontotemporal dementia and parkinsonism linked to chromosome 17
A rare, autosomal-dominant neurodegenerative disorder (“tauopathy”) with incomplete penetrance, which is characterised by:(1) behavioural and personality changes,
(2) cognitive impairment, and
(3) motor symptoms.
The phenotype of FTDP-17 varies between families carrying different mutations and within families carrying the same mutation.
Definitive diagnosis:
(1) clinical features,
(2) pathology,
(3) molecular genetic analysis.
Management
Symptomatic and supportive.
Prognosis
Extremely poor: lifespan is measured in several months to several years, rarely more.