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Yayınlanmış 1 Ocak 2013 | Sürüm v1
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Neurodegenerative Disease Phenotypes in Carriers of MAPT p.A152T, A Risk Factor for Frontotemporal Dementia Spectrum Disorders and Alzheimer Disease

Yazarlar/Oluşturanlar

  • 1. UCSF, Dept Neurol, Memory & Aging Ctr, San Francisco, CA 94158 USA
  • 2. Univ Toronto, Tanz Ctr Res Neurodegenerat Dis, Toronto, ON M5S 1A1, Canada
  • 3. Univ Calif Los Angeles, Dept Neurol, Neurobehav Div, Los Angeles, CA 90024 USA
  • 4. Univ Calif Los Angeles, Dept Psychiat & Neurol, Los Angeles, CA USA
  • 5. Mayo Clin, Dept Neurosci, Rochester, MN USA
  • 6. Cornell Univ, Dept Med, Weill Med Coll, New York, NY 10021 USA

Açıklama

Recently, Coppola and colleagues demonstrated that a rare microtubule-associated protein tau (MAPT) sequence variant, c.454G>A (p.A152T) significantly increases the risk of frontotemporal dementia (FTD) spectrum disorders and Alzheimer disease (AD) in a screen of 15,369 subjects. We describe clinical features of 9 patients with neurodegenerative disease (4 women) harboring p.A152T, aged 51 to 79 years at symptom onset. Seven developed FTD spectrum clinical syndromes, including progressive supranuclear palsy syndrome (n=2), behavioral variant FTD (bvFTD, n=1), nonfluent variant primary progressive aphasia (nfvPPA, n=2), and corticobasal syndrome (n=2); 2 patients were diagnosed with clinical AD. Thus, MAPT p.A152T is associated with a variety of FTD spectrum clinical presentations, although patients with clinical AD are also identified. These data warrant larger studies with clinicopathologic correlation to elucidate the influence of this genetic variant on neurodegenerative disease.

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