Monday, October 10, 2011

Researchers link mutation with inherited narcolepsy

A European team of researchers has identified the mutation that triggers narcolepsy in a large family impacted by this rare disorder. Published in the American Journal of Human Genetics, the findings provide new insight on the genetics of inherited narcolepsy as well as other complex neuropsychiatric diseases.

Narcolepsy is a rare condition characterized by frequent and uncontrollable urges to sleep at inappropriate times and places. Researchers say people suffering from this disorder may also deal with 'cataplexy', a sudden muscle weakness that is brought on by strong emotions. While most narcolepsy cases are believed to be brought on by complex mechanisms, some cases are linked to inherited mutations that have yet to be identified.

In this latest study, the researchers from Spain and Switzerland performed a genetic analysis in the largest-reported family suffering from this disease.

'The cause of this rare form of inherited narcolepsy has been very difficult to study and is not well understood,' says Dr Rosa Peraita-Adrados from the Gregorio Marañón University Hospital in Madrid, Spain. 'To identify a causative mutation in familial narcolepsy, we performed a genetic analysis in the largest-ever reported family with 12 affected members and then performed an even more sensitive analysis of 3 affected members with narcolepsy and cataplexy.'

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