Spastic paraparesis and atypical dementia caused by PSEN1 mutation (P264L), responsible for Alzheimer's disease

J Med Genet. 2002 Feb;39(2):E2. doi: 10.1136/jmg.39.2.e2.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Alzheimer Disease / etiology*
  • Alzheimer Disease / genetics*
  • Amino Acid Substitution / genetics*
  • Dementia / genetics*
  • Genetic Predisposition to Disease
  • Humans
  • Leucine / genetics
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Mutation / genetics*
  • Paraparesis, Spastic / genetics*
  • Presenilin-1
  • Proline / genetics

Substances

  • Membrane Proteins
  • PSEN1 protein, human
  • Presenilin-1
  • Proline
  • Leucine