What is the role of tau protein in the pathogenesis of frontotemporal dementia (FTD)?

Updated: Jun 14, 2018
  • Author: Howard S Kirshner, MD; Chief Editor: Jasvinder Chawla, MD, MBA  more...
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Answer

Answer

In 1998, Hutton and colleagues [20] and Poorkaj and colleagues [21] described mutations in the microtubule-associated protein tau (MAPT) gene, located on chromosome 17, associated with FTD syndromes and insoluble tau deposits. FTD consequently changed from a lobar atrophy of syndromic definition to a group of molecular genetic disorders. Many MAPT mutations have subsequently been described, including the 2 large families reported by Morris and colleagues, under the term “hereditary dysphasic dementia.” [22]

Tau is the major protein component of Pick bodies and is seen in a number of other neurodegenerative diseases, including progressive supranuclear palsy (PSP), [23] corticobasal degeneration, and the amyotrophic lateral sclerosis (ALS) ̶ Parkinson dementia disease complex of Guam. These other diseases can produce syndromes of primary language degeneration resembling PPA and FTD. Interestingly, no MAPT mutations have been found in Alzheimer disease.


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