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.

Management
Symptomatic and supportive.

Prognosis
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 ?
Frontotemporal dementia and parkinsonism linked to chromosome 17 with the N279K tau mutation.
Pick's disease pathology of a missense mutation of S305N of frontotemporal dementia and parkinsonism linked to chromosome 17: another phenotype of S305N.
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