ASSOCIATION OF APOLIPOPROTEIN-E EPSILON-4 ALLELE WITH BULBAR-ONSET MOTOR-NEURON DISEASE

Background Variants of the apolipoprotein E (APOE) gene influence the age of onset of Alzheimer's disease. APOE may influence the presentati on of other neurological diseases. We investigated the relationship be tween the allelic variants of apolipoprotein E and clinical presentati on in motor neuron disease. Methods 123 patients with motor neuron dis ease and 121 controls were studied. Diagnosis, location of onset and d ate of onset were recorded prospectively. Genotyping was performed bli nd to clinical information. Findings Possession of at least one epsilo n 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 th e apolipoprotein E epsilon 4 allele may influence the pattern of motor neuron loss in motor neuron disease and that it may affect neuronal f unction in ways unrelated to the deposition of beta-amyloid or accumul ation of neurofibrillary tangles.