Ataxic variant of Alzheimer's disease caused by Pro117Ala PSEN1 mutation

J Neurol Neurosurg Psychiatry. 2007 Dec;78(12):1414-5. doi: 10.1136/jnnp.2007.123026.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Alzheimer Disease / cerebrospinal fluid
  • Alzheimer Disease / complications*
  • Alzheimer Disease / diagnosis
  • Ataxia / complications*
  • Ataxia / genetics*
  • Female
  • Genetic Variation / genetics*
  • Humans
  • Neuropsychological Tests
  • Pedigree
  • Point Mutation / genetics*
  • Presenilin-1 / genetics*
  • Severity of Illness Index

Substances

  • PSEN1 protein, human
  • Presenilin-1