Research and Narcolepsy

In May of this year groundbreaking research about the key role the immune system plays in Narcolepsy was published. A team of international researchers led by Emmanuel Mignot, MD, PhD, and Director of Stanford’s Center for Narcolepsy found a tight association between narcolepsy and a genetic mutation in T cells, the immune system’s vehicle for identifying and attacking foreign bodies.

Although further research is needed to determine exactly how this mutation leads to narcolepsy, the research behind this highly technical article, titled, “Narcolepsy is strongly associated with the T-cell receptor alpha locus” is based on a study of the analysis of DNA samples from over 800 patients with narcolepsy and cataplexy. Dr Mignot stated that this is opening the door for preventive therapies. The implications of this research go well beyond the narcolepsy field. As the first of its kind to link a disorder associated with the immune system to the T cell alpha locus, it provides a model for the study of over 100 other similarly associated disorders including juvenile diabetes and multiple sclerosis.

Generally children with narcolepsy have a completely normal development although secondary narcolepsy is associated with underlying neurological disorders such as Nieman-Pick disease where there is developmental delay. In first degree relatives 10% may also have narcolepsy and up to 40% of narcoleptic patients may have a family member who has excessive daytime sleepiness.

Narcolepsy is fortunately one of the less common sleep disorders but has long been recognised as having a definate genetic link. Most sufferers are diagnosed in late teens although some younger children have also been identified as narcoleptic.

Narcolepsy is a lifelong chronic disorder that will always require management. The aims of "treatment" are adaptation to living with this disorder and improving quality of life.