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Poorkaj P, Bird TD, Wijsman E, Nemens E, Garruto RM, Anderson L, Andreadis A, Wiederholt WC, Raskind M, Schellenberg GD. Tau is a candidate gene for chromosome 17 frontotemporal dementia. Ann Neurol. 1998 Jun;43(6):815-25. PubMed.

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Mutations

  1. MAPT D285N
  2. MAPT D285D
  3. MAPT V289A
  4. MAPT V337M
  5. MAPT N255N
  6. MAPT Y441H
  7. MAPT S447P
  8. MAPT P301L

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  1. Tau mutations cause neurofibrillary pathology, neurodegeneration, FTD, but not AD
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