Narcolepsy
What is Narcolepsy
Narcolepsy is due to an inability of the brain to maintain adequate alertness during daylight hours, so the daytime sleepiness common to the different forms of the disease is not attributable to a qualitative or quantitative sleep defect.
Symptoms
The main symptoms of narcolepsy include excessive daytime sleepiness, falling asleep in inappropriate and therefore often dangerous contexts; cataplexy, a sudden muscle weakness triggered by intense emotional stimuli, such as laughter; episodes of sleep paralysis at transitions between wakefulness and sleep; sleep hallucinations; and night-time sleep disturbed by awakenings and frequent motor manifestations.
The causes
There are different forms of narcolepsy, in particular narcolepsy type 1 (previously called narcolepsy with cataplexy), narcolepsy type 2 (narcolepsy without cataplexy), and non-REM narcolepsy (or idiopathic hypersomnia). To date, the best known form is narcolepsy type 1, a condition that has a genetic predisposition conferred by the HLA system and is probably caused by an autoimmune process that destroys hypocretin (or orexin) producing hypothalamic neurons. Knowledge of the causes of other forms of narcolepsy is still very poor.
Diagnosis
The diagnosis of narcolepsy requires an extensive clinical, instrumental and biological evaluation in order to exclude other possible causes of daytime sleepiness, confirm its actual presence and search for biological markers of the disease. The approach used involves performing a continuous polysomnographic recording of the 48-hour sleep-wake rhythm, a laboratory test to document cataplexy, a laboratory test to confirm the high propensity to sleep and characterise it, blood samples for metabolic and genetic purposes, and finally a spinal tap to measure the levels of hypocretin (or orexin) in the CSF.
Once the pathology has been confirmed, given the high recurrence of endocrine-metabolic and psychological complications, an in-depth study in endocrinology, paediatrics, psychology or psychiatry may be necessary, as well as an assessment of the impact of the disease at a psychosocial level in forensic medicine.
Therapy
To date, there is no aetiological therapy for narcolepsy. Therefore, the available therapies, both behavioural and pharmacological, target the individual symptoms of the disease and allow good control in the short and long term. On the behavioural side, the focus is on disease awareness, sleep hygiene and scheduled naps. On the pharmacological side, stimulant drugs are used to improve daytime alertness, antidepressants to control cataplexy, or sodium oxybate to induce deep night-time sleep and benefit drowsiness and cataplexy, as well as often controlling body weight.
What can you do for Narcolepsy at ISNB?
People with a definite diagnosis or a suspicion of narcolepsy can access a comprehensive care pathway that begins with an outpatient visit and, depending on the clinical situation and any tests already carried out, includes a diagnostic admission and outpatient follow-up pathway with visits at variable frequency (from monthly, quarterly to annually).
Narcolepsy Centre
The ISNB Narcolepsy Centre offers
- first visits
- diagnostic tests
- polysomnographic recording
How to access the Centre
- by requesting a neurological examination (general practitioner's prescription and booking at the CUP)
- by telephone reservation: 051-496.69.90
Contact
For information
Tel.: 051-496.69.26 (10.00-12.00, Monday to Thursday)
email: centrosonno@unibo.it
Headquarters
Institute of Neurological Sciences of Bologna (ISNB)
Pavilion G of Bellaria Hospital, first floor
via Altura 1/8, Bologna
The Sleep Study Centre at the Institute of Neurological Sciences in Bologna was founded in 1969 by Professor Elio Lugaresi, one of the founding fathers of sleep medicine. The Narcolepsy Centre is an international reference point for Narcolepsy and hypersomnia of the central nervous system and has the largest European case series on narcolepsy. The Narcolepsy Centre of the ISNB, directed by Giuseppe Plazzi, President of the Italian Association of Sleep Medicine - AIMS, is recognised by independent European bodies (e.g. Swedish Research Council) as the most important on the continent in terms of publications, and the second most important worldwide after Stanford.
Team
Giuseppe Plazzi, neurologist and director of the Narcolepsy Centre
Myriam Cocorullo, nurseMarco Filardi, psychologist
Alice Mazzoni, neurophysiopathology technician
Monica Moresco, biologist
Giulia Neccia, neurophysiopathology technician
Fabio Pizza, neurologist
Stefano Vandi, neurophysiopathology technician
The relevant Operational Units
Research/awards
In 2016, a new form of narcolepsy, which until then had been impossible to diagnose, was discovered, caused by a mutation in a gene. (in collaboration with the University of Standford).
In 2018, the Centre was awarded funding from the Ministry of Health, under the Bando Ricerca FInalizzata, for research into the use of telemedicine for the diagnosis of narcolepsy. In order to reduce the logistical and economic inconvenience that long distances represent and to give the greatest number of patients the possibility of being followed at the centre of excellence, Plazzi and his multidisciplinary team want to evaluate the possibility of making a diagnosis of narcolepsy and managing the patient with telemedicine, verifying its reliability and ethical-legal limits.
In 2019, the Centre's team, in collaboration with the University of Modena and Reggio Emilia, identified an area of the brain, known as the "zona incerta", which is directly involved in cataplexy phenomena. The discovery opens the way to new fields of research that now concern the dynamics of activation of the uncertain zone and the possibility of inducing them pharmacologically.