Dr. Giuseppe Plazzi

Director of the Sleep Laboratory, Department of Neurological Sciences, University of Bologna. Member of the European Narcolepsy Network (EU-NN).

Question. You have researched all aspects of the disease, that is to say, clinical, immunogenetic, therapeutic, legal-medicine, etc., in both children and adults. How have you been able to study such a wide range of patients? Have the brilliant campaigns carried out by the Italian Narcolepsy Association contributed to your work?
Answer. We started to collaborate with the Italian Association of Narcoleptic Patients (Associazione Italiana Narcolettici – AIN) in 2000 by working jointly on plans for awareness campaigns on narcolepsy for the media. Together with a famous Italian cartoonist we designed a video spot that summarised the cardinal symptoms of narcolepsy, and the cartoon ran on the main Italian television channels. This campaign brought narcolepsy to the fore and we had the opportunity to diagnose hundreds of patients who had previously gone unrecognised as narcoleptics or had been misdiagnosed. We also created a multidisciplinary team to try to address all the multifaceted aspects of narcolepsy: medico-legal (with Francesca Ingravallo), metabolic (with Uberto Pagotto), psychological (with Carlo Cipolli and Christian Franceschini) and paediatrics (Filippo Bernardi, Antonio Balsamo, and Monia Gennari).

Q. On reviewing your numerous publications, in our view we can identify two important dimensions: first, the semiology of child cataplexy, accompanied by extensive audiovisual documentation; and second, the wide spectrum of metabolic disorders examined in your series on infants (Aran A, et al. Sleep 2010). Can you explain the key aspects of each study?
A. On viewing a large number of patients we started to observe that there were also children with narcolepsy close to disease onset. It is very well known that more than 50% of patients with narcolepsy report the onset of their symptoms before they are 15 years old; however, the diagnosis is performed in adulthood in most cases. A long time span between disease onset and diagnosis seems to be another clinical aspect of narcolepsy. This picture raises an important point: can narcolepsy change during its course? What we noticed in a large number of children with narcolepsy is indeed a new clinical picture that was not described previously. Childhood narcolepsy is characterised by an abrupt onset, cataplexy is often associated with complex movement disorders, behavioural problems, remarkable sleepiness or hyperactivity, night-time insomnia, obesity (or very fast weight gain), accelerated puberty or even precocious puberty. My personal feeling is that this picture turns into the classical form of narcolepsy with cataplexy over time and this different presentation can be one of the causes of the diagnostic delay.

Q. Your work on processing emotions in narcoleptics is quite important for the understanding of the psycho-physiological mechanisms of the disease (Tucci V, et al. Sleep 2003). Can you summarise your findings in this study?
A. Narcolepsy with cataplexy is a fascinating abnormal response to emotions, and it is much more than a ‘sleep disorder’. In 2003 we performed one of the first psycho-physiological experiments on narcoleptic patients and first we found evidence of an altered emotional response in narcoleptic patients indicating amygdala involvement, as Sophie Schwartz and Claudio Bassetti confirmed in several papers.

Q. Your publications on dimensions of the autonomic nervous system and its implications for human narcolepsy (Donadio V, et al. J Sleep Res 2008) are extremely interesting. Could you elaborate on this?
A. We also studied the autonomic aspects of narcolepsy and, in the paper by Vincenzo Donadio, the paroxysmal autonomic changes during cataplexy by microneurography. Several studies suggest that the autonomic system may be altered in narcoleptic patients but it is unclear whether this could depend on the altered hypocretin system or if it is secondary to sleep alteration. This is a fascinating field and I think that many groups are working on it.

Q. You organised the 3^rd European Narcolepsy Day in Bologna, a year ago. It was an excellent meeting. It offered a strong scientific programme, attracted a large number of participants, and concluded with breakout meetings of the various European narcolepsy associations. We learned a great deal in Bologna and were inspired to replicate the structure of that meeting in organising the 4^th European Narcolepsy Day in Madrid, on March 16-17.
A. Having the 3^rd European Narcolepsy Day in Bologna was a great opportunity for my group and for patients too. The congress was in fact sponsored by the Patients’ Association. I wish you even more success for your meeting in Madrid.

Q. The Neurological Clinic of Bologna is an international reference point as a pioneer in the study of sleep pathology in humans. We understand that the sleep clinic is being transferred to Bellaria Hospital and we are wondering whether all the current research areas will be maintained in the new Centre?
A. We hope so… we are now working to create a large modern multidisciplinary centre for the diagnosis, treatment and research on narcolepsy in the new Bellaria Hospital.

Q. Finally, as a member of the EU-NN Board, could you summarise the achievements of the network over the last five years and comment on what you think the future holds?
A. The EU-NN creates an important network involving all the most important European centres and experts on narcolepsy. The database and the GWAS are probably the most important goals of this new scientific group. I think that in the future the EU-NN could work in several directions, involving more centres and European countries, promoting clinical scientific collaborations, genetic studies, translational research, new treatments, but also working with patients’ associations to promote disease awareness, and suggest guidelines for school, work, and driving licenses for narcoleptic patients.

Dr. Rosa Peraita-Adrados
Unidad de Sueño y Epilepsia-Neurofisiología Clínica. Hospital Universitario Gregorio Marañón. Madrid

Prof. Juan-Vicente Sanchez-Andrés
Director asociado de Revista de Neurología
Departamento médico, Viguera eds.

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