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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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 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.[1]


  1. Association of apolipoprotein E epsilon 4 allele with bulbar-onset motor neuron disease. al-Chalabi, A., Enayat, Z.E., Bakker, M.C., Sham, P.C., Ball, D.M., Shaw, C.E., Lloyd, C.M., Powell, J.F., Leigh, P.N. Lancet (1996) [Pubmed]
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