A novel presenilin 1 mutation (Leu418Trp) associated with spasticity, parkinsonism, and white matter lesion in a dominant Alzheimer's family

J Neurol Sci. 2018 Apr 15:387:166-169. doi: 10.1016/j.jns.2018.01.006. Epub 2018 Jan 5.
No abstract available

Keywords: Alzheimer's disease; Parkinsonism; Presenilin 1 mutation; Spasticity; White matter lesion.

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Alzheimer Disease / complications*
  • Alzheimer Disease / diagnostic imaging
  • Alzheimer Disease / genetics*
  • Family Health
  • Female
  • Humans
  • Leukoencephalopathies / etiology*
  • Leukoencephalopathies / genetics
  • Magnetic Resonance Imaging
  • Male
  • Muscle Spasticity / etiology*
  • Muscle Spasticity / genetics
  • Mutation / genetics*
  • Parkinsonian Disorders / etiology*
  • Parkinsonian Disorders / genetics
  • Presenilin-1 / genetics*

Substances

  • Presenilin-1