CSF studies facilitate DNA diagnosis in familial Alzheimer's disease due to a presenilin-1 mutation

J Alzheimers Dis. 2009;17(1):53-7. doi: 10.3233/JAD-2009-1038.

Abstract

In sporadic Alzheimer's disease (AD), cerebrospinal fluid (CSF) analysis is becoming increasingly relevant to establish an early diagnosis. We present a case of familial AD due to a presenilin-1 mutation in which CSF studies suggested appropriate DNA diagnostics. A 38 year old Dutch man presented with dementia, spastic paraparesis, and frontal executive function impairments, mimicking familial Creutzfeldt Jakob disease and frontotemporal dementia. CSF studies, revealing increased total tau and phosphorylated-tau levels with decreased amyloid-beta42, distinguished familial AD from Creutzfeldt Jakob disease and frontotemporal dementia. A causative p.L424R PSEN1 mutation was subsequently identified.

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Alzheimer Disease* / cerebrospinal fluid
  • Alzheimer Disease* / diagnosis
  • Alzheimer Disease* / genetics
  • Amyloid beta-Peptides / cerebrospinal fluid
  • Arginine / genetics
  • Creutzfeldt-Jakob Syndrome / cerebrospinal fluid
  • Creutzfeldt-Jakob Syndrome / diagnosis
  • Creutzfeldt-Jakob Syndrome / genetics
  • Dementia / cerebrospinal fluid
  • Dementia / diagnosis
  • Dementia / genetics
  • Female
  • Humans
  • Leucine / genetics
  • Magnetic Resonance Imaging / methods
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Peptide Fragments / cerebrospinal fluid
  • Presenilin-1 / cerebrospinal fluid*
  • Presenilin-1 / genetics*
  • Reference Values
  • Young Adult
  • tau Proteins / cerebrospinal fluid

Substances

  • Amyloid beta-Peptides
  • Peptide Fragments
  • Presenilin-1
  • amyloid beta-peptide (5-42)
  • tau Proteins
  • Arginine
  • Leucine