frontotemporal dementia and parkinsonism linked to chromosome 17

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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.

Symptomatic and supportive.

Extremely poor: lifespan is measured in several months to several years, rarely more.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
Conditions with autosomal dominant inheritance, such as FTDP-17, pose a 50% risk to all offspring of an affected individual.
For disorders such as FTDP-17, the development of a clinical test is important for confirmation of mutations initially identified in the research laboratory and to provide predictive testing of family members of affected individuals with known mutations.
In the case of FTDP-17 mutations, the penetrance is reported to be very high by the sixth decade of life (7).
However, one study looked at the effect of DNA testing for FTDP-17 and early-onset familial AD in at-risk individuals.
Missense and splice site mutations in tau associated with FTDP-17: multiple pathogenic mechanisms.
Tau gene mutations: dissecting the pathogenesis of FTDP-17. Trends Mol Med 2002;8:555-62.