Cochran JN, McKinley EC, Cochran M, Amaral MD, Moyers BA, Lasseigne BN, Gray DE, Lawlor JM, Prokop JW, Geier EG, Holt JM, Thompson ML, Newberry JS, Yokoyama JS, Worthey EA, Geldmacher DS, Love MN, Cooper GM, Myers RM, Roberson ED. Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles. Cold Spring Harb Mol Case Stud. 2019 Dec;5(6) Print 2019 Dec PubMed.

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Mutations

  1. PSEN1 R35Q
  2. SORL1 M105T
  3. SORL1 R416Q