Association of apolipoprotein E epsilon 4 allele with bulbar-onset motor neuron disease

Lancet. 1996 Jan 20;347(8995):159-60. doi: 10.1016/s0140-6736(96)90343-8.

Abstract

Background: Variants of the apolipoprotein E (APOE) gene influence the age of onset of Alzheimer's disease. APOE may influence the presentation of other neurological diseases. We investigated the relationship between the allelic variants of apolipoprotein E and clinical presentation in motor neuron disease.

Methods: 123 patients with motor neuron disease and 121 controls were studied. Diagnosis, location of onset and date of onset were recorded prospectively. Genotyping was performed blind to clinical information.

Findings: Possession of at least one epsilon 4 allele was significantly more common in patients with bulbar onset motor neuron disease (14/33, 42%) than in limb onset patients (20/90, 22%) and controls (26/121, 21%) (chi 2 = 4.93, p = 0.026 and chi 2 = 5.91, p = 0.015, respectively).

Interpretation: These results suggest that the apolipoprotein E epsilon 4 allele may influence the pattern of motor neuron loss in motor neuron disease and that it may affect neuronal function in ways unrelated to the deposition of beta-amyloid or accumulation of neurofibrillary tangles.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Alleles
  • Apolipoproteins E / genetics*
  • Female
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Motor Neuron Disease / genetics*
  • Prospective Studies

Substances

  • Apolipoproteins E