Genetic heterogeneity in narcolepsy

Department of Paediatrics, The University of Western Ontario, London, Ontario, Canada
The Lancet (Impact Factor: 45.22). 04/1990; 335(8691):726-7. DOI: 10.1016/0140-6736(90)90842-S
Source: PubMed
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    Neurologia (Barcelona, Spain) 17(6):307-9. · 1.38 Impact Factor
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    ABSTRACT: Identification of genes determining narcolepsy susceptibility is important not only for understanding that disorder but also for possible clues to general sleep-control mechanisms. Studies in humans reveal at least one such gene related to the major histocompatibility complex and in dog an as-yet-unmapped single, autosomal recessive gene canarc-1. Gene markers for canarc-1 were therefore sought by DNA restriction fragment length polymorphisms in our colony of narcoleptic dogs. A human mu-switch immunoglobulin probe and the enzyme Hae III identified a gene cosegregating with canarc-1 in backcrossed animals (logarithm of odds scores: m = 24, Z max = 7.2 at theta = 0%). canarc-1 was also shown not to be tightly linked with the dog major histocompatibility complex (m = 40, Z less than -2 at theta less than 4.8%). These results represent the mapping of a non-major histocompatibility complex narcolepsy gene and strongly suggest involvement of the immune system in the pathophysiology of that disease.
    Proceedings of the National Academy of Sciences 05/1991; 88(8):3475-8. DOI:10.1073/pnas.88.8.3475 · 9.67 Impact Factor
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    ABSTRACT: Narcolepsy is characterized by excessive sleepiness and abnormal manifestations of rapid eye movement (REM) sleep. Neurochemical studies of human and canine narcolepsy have demonstrated disturbed monoaminergic and cholinergic function and suggest that deficits of noradrenaline availability in specific brain regions may account for much of its disordered pathophysiology. Genetic susceptibility to narcolepsy is closely linked to a specific region of the major histocompatibility complex on chromosome 6 and an important direction for future research will be to unravel the relationship between this gene region and the neurochemical abnormalities of narcolepsy.
    Trends in Neurosciences 07/1991; 14(6):235-9. DOI:10.1016/0166-2236(91)90121-A · 13.56 Impact Factor
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