Abstract
BackgroundNarcolepsy is a common neuropsychiatric disorder characterized by increased daytime sleepiness, cataplexy and hypnagogic hallucinations. Deficiency of the hypocretin neurotransmitter system was shown to be involved in the pathogenesis of narcolepsy in animals and men. There are several hints that neurodegeneration of hypocretin producing neurons in the hypothalamus is the pathological correlate of narcolepsy. The ApoE4 allele is a major contributing factor to early-onset neuronal degeneration in Alzheimer disease and other neurodegenerative diseases as well.MethodsTo clarify whether the ApoE4 phenotype predisposes to narcolepsy or associates with an earlier disease onset, we have genotyped the ApoE gene in 103 patients with narcolepsy and 101 healthy controls.ResultsThe frequency of the E4 allele of the ApoE gene was 11% in the patient and 15% in the control groups. Furthermore, the mean age of onset did not differ between the ApoE4+ and ApoE4- patient groups.ConclusionOur results exclude the ApoE4 allele as a major risk factor for narcolepsy.
Highlights
BackgroundNarcolepsy is a common neuropsychiatric disorder characterized by increased daytime sleepiness, cataplexy and hypnagogic hallucinations
Narcolepsy is a frequent debilitiating neuropsychiatric disorder characterized by increased daytime sleepiness, cataplectic episodes and hypnopompic and hypnagogic hallucinations
We have tested the hypothesis of the involvement of the E4 allele of ApoE in the etiology of narcolepsy
Summary
Narcolepsy is a frequent debilitiating neuropsychiatric disorder characterized by increased daytime sleepiness, cataplectic episodes and hypnopompic and hypnagogic hallucinations. The occurence of narcolepsy is sporadic; a proportion of cases is familial with an autosomal-dominant type of inheritance. Dobermann pincher and Labrador breeds with autosomal recessively inherited narcolepsy each share a splice-site mutation in the hypocretin-receptor 2 gene [5]. Hypocretin levels in CSF of most narcoleptics is decresed or not detectable [6], no causative mutations in both hypocretin receptor genes were found in humans. A single patient with atypical early-onset narcolepsy carries a dominant signal peptide mutation in the preprohypocretin gene [7]. Among several neurodegenerative diseases the E4 allele of the ApoE gene has been recognized as a predisposing genetic risk factor mainly influencing the age of manifestation of M. We have tested the hypothesis of the involvement of the E4 allele of ApoE in the etiology of narcolepsy
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