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.
References in periodicals archive ?
Frontotemporal dementia and parkinsonism linked to chromosome 17 with the N279K tau mutation.
Longitudianl characterization of two siblings with frontotemporal dementia and parkinsonism linked to chromosome 17 associated with the S305N tau mutation.
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