It will confirm the diagnosis, since these genetic characteristics are found in more than 92% of cases in narcoleptics and only in 20% of the general population. Analysis of the HLA (Human Leukocyte Antigen) class II system: serological HLA typing DR2-DQ1 and more precisely oligonucleotide HLA DRB1*1501-DQB1*0602.Polysomnographic recording is necessary, as are iterative daytime sleep latency tests that confirm the diagnosis (mean sleep latency less than 8 minutes and at least 2 REM sleep episodes out of 5 tests performed).The diagnosis of this condition is clinical: However, one case of narcolepsy has been reported in relation to a mutation in the gene coding for preprohypocretin (precursor of hypocretins 1 and 2), as in the canine narcolepsy model (mutation in the gene coding for hypocretin receptor 2). Hypocretin-1 levels in cerebrospinal fluid (CSF) are collapsed in narcoleptics and post-mortem anatomical pathology of the brain reports a near complete disappearance of these hypocretinergic neurons.Ī neurodegenerative mechanism of autoimmune origin is the most likely hypothesis for this neuronal loss. Narcolepsy is caused by the loss of hypocretinergic neurons, located in the laterodorsal part of the hypothalamus. The other symptoms of narcolepsy, hypnagogic hallucinations, sleep paralysis and poor sleep quality are considered incidental as they are inconsistent and sometimes found in the general population. It allows the condition to be identified almost unequivocally. This symptom is very heterogeneous in its clinical presentation, both in terms of intensity and frequency. Cataplexy is characterised by brief and sudden (usually partial) loss of muscle tone, without alteration of consciousness, in connection with strong emotions.excessive daytime sleepiness: this is the most disabling symptom, characterised by recurrent bouts of uncontrollable sleep (which the patient can neither prevent nor control), and always restoring normal wakefulness.Narcolepsy is characterised by two major symptoms: The familial nature of narcolepsy has been known since the original description of the disease but accounts for less than 10 % of narcolepsy patients. However, the majority of patients report the onset of their symptoms during adolescence. The age of onset of narcolepsy is variable and ranges from early childhood to late adulthood. Narcolepsy is a rare condition, affecting only 0.026% of the general population. It is most often associated with another symptom called cataplexy. Narcolepsy is a cause of excessive daytime sleepiness. Definition / Frequency - Clinical signs - Cause of the disease - Assessment to be carried out - Variant without cataplexy - Treatment of excessive daytime sleepiness - Treatment of cataplexy Definition / Frequency
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