Article
Unusually long duration and delayed penetrance in a family with FTD and mutation in MAPT (V337M).
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Jan 2017
Domoto-Reilly Kimiko, Davis Marie Y, Keene C Dirk, Bird Thomas D
Abstract excerpt
Mutations in the MAPT gene coding for the tau protein are one of the most common causes of familial frontotemporal dementia (FTD). In a previously described family with the V337M mutation in MAPT, we now report an affected woman who died at age 92 with a >40 year duration of symptoms, more than three times the mean disease duration in her family (13.8 years). Neuropathology showed the typical findings of a...
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