Pure spastic paraparesis associated with a novel presenilin 1 R278K mutation

Neurology. 2003 Jan 14;60(1):150. doi: 10.1212/01.wnl.0000040252.43269.83.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Amino Acid Substitution*
  • Amyloid beta-Peptides / analysis
  • Amyloid beta-Peptides / biosynthesis
  • Apolipoproteins E / genetics
  • Cells, Cultured
  • Culture Media, Conditioned / chemistry
  • DNA Mutational Analysis
  • Dementia / complications
  • Dementia / diagnosis
  • Dementia / genetics*
  • Disease Progression
  • Female
  • Fibroblasts / cytology
  • Fibroblasts / metabolism
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Mental Recall
  • Middle Aged
  • Neuropsychological Tests
  • Paraparesis, Spastic / complications
  • Paraparesis, Spastic / diagnosis
  • Paraparesis, Spastic / genetics*
  • Peptide Fragments / analysis
  • Peptide Fragments / biosynthesis
  • Phenotype
  • Point Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Presenilin-1

Substances

  • Amyloid beta-Peptides
  • Apolipoproteins E
  • Culture Media, Conditioned
  • Membrane Proteins
  • PSEN1 protein, human
  • Peptide Fragments
  • Presenilin-1
  • amyloid beta-protein (1-40)
  • amyloid beta-protein (1-42)