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INIZIO_TESTO_DA_INDICIZZARE

RESEARCH PROGRAM

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Research Units
Similar research programs:
Scientific and education field classification
International Patent Classification
  • HUMAN NECESSITIES
    • MEDICAL OR VETERINARY SCIENCE; HYGIENE
      • DIAGNOSIS; SURGERY; IDENTIFICATION (analysing biological material G01N, e.g. G01N33/48; obtaining records using waves other than optical waves, in general G03B42/00)
  • PHYSICS
    • MEASURING (counting G06M); TESTING
      • INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES (separating components of materials in general B01D, B01J, B03, B07; apparatus fully provided for in a single other subclass, see the relevant subclass e.g. B01L; measuring or testing processes other than immunoassay, involving enzymes or micro-organisms C12M, C12Q; investigation of foundation soil in situ E02D1/00; sensing humidity changes for compensating measurements of other variables or for compensating readings of instruments for variations in humidity, see G01D or the relevant subclass for the variable measured; testing or determining the properties of structures G01M; measuring or investigating electric or magnetic properties of materials G01R; systems or methods in general, using reception or emission of radiowaves or other waves and based on propagation effects, e.g. Doppler effect, propagation time, direction of propagation, G01S; determining sensivity, graininess, or density of photographic materials G03C5/02; testing component parts of nuclear reactors G21C17/00; [N: controlling or regulating non-electric variables G05D; measuring degree of ionisation of ionised gases, i.e. plasma H05H1/00A; testing electrographic developer properties G03G15/08H6])
Geographical classification
Bibliografia
American Academy of Sleep Medicine (2005) International Classification of Sleep Disorders, 2nd edition: Diagnostic and Coding Manual. Westchester, Illinois: American Academy of Sleep Medicine

Commission on Classification and Terminology of the International League Against Epilepsy (1989) Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 30:389-399

Fleiss JL (1981) Statistical methods for rates and proportions. 2nd ed. New York: John Wiley, pp. 212-236.

Hopper JL, Bishop DT, Easton D (2005) Population-based family studies in genetic epidemiology. Lancet 366:1397-1406.

Hublin C, Kaprio J (2003) Genetic aspects and genetic epidemiology of parasomnias. Sleep Med Rev 7:413-21.

Landis JR, Koch GG (1977) Measurement of observer agreement for categorical data. Biometrics 33:159-174.

Ottman R (2005) Analysis of genetically complex epilepsies. Epilepsia 46(Suppl 10):7-14.

Provini F, Plazzi G, Tinuper P, Vandi S, Lugaresi E, Montagna P (1999). Nocturnal frontal lobe epilepsy. A clinical and polygraphic overview of 100 consecutive cases. Brain 122:1017-1031.

Tinuper P, Lugaresi E (2002) The concept of paroxysmal nocturnal dystonia. In: Bazil CW, Malow BA, Sammaritano MR (eds.) Sleep and Epilepsy: the clinical spectrum. Elsevier Science BV, pp. 277-282.
Keywords
PARASOMNIAS, NOCTURNAL SEIZURES, FRONTAL LOBE EPILEPSY, AROUSAL, SLEEP, GENETICS, EPIDEMIOLOGY, FUNCTIONAL IMAGING, MRI

CLINICAL, GENETIC AND DEVELOPMENTAL CHARACTERIZATION OF SLEEP-RELATED EPILEPTIC SEIZURES AND AROUSAL DISORDERS

Università degli Studi di Bologna
Abstract
NFLE is a syndrome that includes paroxysmal episodes with variable semeiology, intensity and duration, occurring during sleep. NFLE may be familial with a mendelian autosomal dominant inheritance (ADNFLE). The known mutations responsible for ADNFLE are in genes coding for neuronal Ach Receptor subunits (CHRNA4, CHRNB2) but, in the majority of the cases, NFLE is cryptogenic. NFLE is therefore a complex disease whose etiology is probably determined by the interaction of genetic and environmental factors in the majority of cases (multifactorial-polygenic disease), but, so far, the relevant risk factors are unknown. Ad hoc designed epidemiological (case-control or cohort) studies for the assessment of the genetic and environmental risk factors are needed. Due to the bizarre clinical features and the frequent normality of even ictal EEG, the diagnosis of NFLE is a significant challenge for the clinician, with the differentiation of NFLE from non-epileptic arousal parasomnias often the primary concern. Indeed, NFLE seems to coexist in affected patients or their family relatives with nocturnal parasomnic attacks, suggesting that common pathogenic mechanisms may exist between NFLE and arousal disorders such as the parasomnias. There is, therefore, a need to establish the reliability of the clinical and polysomnographic features in distinguishing NFLE seizures from parasomnias in those situations in which video-EEG and polysomnography are impracticable or unhelpful. This research >>>

Principal Investigator
Pasquale Montagna Università degli Studi di BOLOGNA
Research Objectives
The principal objective of the research project is to try and define the differential features in the clinical and natural history characteristics of the frontal lobe seizures arising during sleep versus the arousal parasomnias. This objective stems from the recognized inability to sometimes differentiate the 2 conditions even under optimal conditions, such as the recording of the actual ictal event, and from the current lack of knowledge about the precise risk factors (mainly genetic versus environmental ones) for NFLE. The differentiation of the clinical and videopolysomnographic characteristics of the seizures arising from the frontal lobe compared to the arousal parasomnias cannot be achieved in the absence of a clinical instrument (e.g. questionnaire) which is at the same time accurate, reliable (e.g. applicable by any physician involved in the diagnostic question) and validated across a spectrum of conditions, ranging from NFLE to several kinds of parasomnias to other potentially confounding sleep disorders. Such an instrument is at the moment lacking. Therefore the first objective of the project is to try and provide such a clinically reliable instrument and to validate it, and the task is to be performed in collaboration by the 3 Units involved in the project according to standard validation procedures. Videorecording of the ictal event will remain of course the “gold standard”. This clinical instrument will also be used in defining the eventual co-morbidity of NFLE >>>

Timescale
24 months
National and international background
Paroxysmal events in sleep represent a significant challenge for the clinician: in particular distinguishing nocturnal epilepsy originating from the frontal lobe (NFLE) from paroxysmal non-epileptic sleep disorders (so-called arousal parasomnias) is often difficult and sometimes impossible on clinical grounds alone, especially since NFLE is a syndromic entity that includes paroxysmal episodes with variable semeiology, intensity and duration comparable with the parasomnias, with onset mainly during adolescence and with seizures appearing during non-REM sleep just like the parasomnias. Interictal and even ictal EEG moreover often fail to disclose epileptiform abnormalities in a substantial percentage of the NFLE. At the moment, some historical and clinico-polysomnographic features have been proposed by some research groups, which may distinguish NFLE from parasomnias, but the value of these features has not been systematically assessed. Also, both the International Classification of Sleep Disorders (ICSD) and the International League Against Epilepsy (ILAE) Classification include nosographic delineations of the NFLE, however, their features again have never been validated. Video-polysomnography together with a careful clinical history remain mandatory for a correct diagnosis, but the nocturnal episodes may still be confused and misdiagnosed as parasomnias, nocturnal panic attacks or hysterical episodes. Moreover video EEG-polysomnography, the “gold standard” diagnostic test >>>