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19 results

  • Chapter 34 - Genetics of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)

  • from Section 9 - Psychiatricand medical disorders
  • Edited by Paul Shaw, Mehdi Tafti, Michael J. Thorpy
  • Book:
    The Genetic Basis of Sleep and Sleep Disorders
    Published online:
    05 November 2013
    Print publication:
    24 October 2013, pp 365-374

  • Summary

    Nocturnal frontal lobe epilepsy (NFLE) displays a strong familial trait for parasomnias. NFLE is often misdiagnosed as an arousal disorder, especially in children, or, commonly, as various parasomnias and psychiatric disorders, including non-rapid eye movement (NREM) arousal disorders and conversion disorders. NFLE patients show a strong positive family history for epilepsy, up to one-fourth of patients in a big series had an affected relative. In summary, autosomal dominant NFLE (ADNFLE) is a genetic heterogeneous epileptic syndrome that can be incidental to different mutations in different genes. Given the high intra-familial variability and the overlapping features of the clinical manifestations, ADNFLE patients do not seem to show a clear distinction from sporadic NFLE cases, except for some specific mutations. The mechanisms whereby mutations cause ADNFLE are still poorly understood, and new insights in the pathophysiology of the disease are needed.

  • Chapter 27 - Propriospinal myoclonus

  • from Section 5 - Sleep-related movement disorders and other variants
  • Edited by Michael J. Thorpy, Giuseppe Plazzi, Università di Bologna
  • Book:
    The Parasomnias and Other Sleep-Related Movement Disorders
    Published online:
    10 November 2010
    Print publication:
    10 June 2010, pp 261-269

  • Summary

    This chapter presents the history, clinical findings, pathology, differential diagnosis and management of propriospinal myoclonus. Propriospinal myoclonus at sleep onset consists of sudden axial jerks arousing during drowsiness preceding falling asleep and during intra-sleep relaxed wakefulness and upon awakening in the morning. The jerks may be variable in frequency, recurring in clusters separated by long gaps of time or quasi-periodically every 10-20 sec during transition from wakefulness to sleep. For patients with suspected propriospinal myoclonus, multiple muscle EMGs from cranial, axial and limb muscles are essentials at polysomnographic investigation. According to the evidence available, propriospinal myoclonus at sleep onset must originate at the spinal level, but it must be set into motion by neurophysiological mechanisms specific to the transitional period between wake and sleep. Propriospinal myoclonus at wake-sleep transitions remains idiopathic condition, often lifelong one, in which no structural abnormality of the brain or spinal cord has been demonstrated.

  • Chapter 19 - Catathrenia (sleep-related groaning)

  • from Section 4 - Other parasomnias
  • Edited by Michael J. Thorpy, Giuseppe Plazzi, Università di Bologna
  • Book:
    The Parasomnias and Other Sleep-Related Movement Disorders
    Published online:
    10 November 2010
    Print publication:
    10 June 2010, pp 184-193

  • Summary

    Four patients had a positive personal history for parasomnias and two- a positive family history. Personal history was positive for parasomnias in two patients. Family history was positive for parasomnias in two patients, for nocturnal groaning in one patient, and for sudden infant death syndrome in one patient. Eight patients were reporting a family history positive for parasomnias and three for nocturnal groaning. Catathrenia is associated with a positive personal or familial history for other parasomnias. There is no drug medication available for catathrenia. Empirical pharmacological treatments with dosulepine, trazodone, clonazepam, paroxetine, carbamazepine, gabapentin, and pramipexole have been unsuccessful or refused. The efficacy of the nCPAP ventilation is still debated. In particular, nCPAP treatment seems effective only when noisy breathing during sleep, diagnosed as catathrenia, is related to the co-existence of expiratory and inspiratory flow limitation with obstructive apneas or hypopneas and consequent intermittent hypoxia.

The Parasomnias and Other Sleep-Related Movement Disorders
  • Edited by Michael J. Thorpy, Giuseppe Plazzi
  • Published online:
    10 November 2010
    Print publication:
    10 June 2010
  • The first authoritative review on the parasomnias - disorders that cause abnormal behavior during sleep - this book contains many topics never before covered in detail. The behaviors associated with parasomnias may lead to injury of the patient or bed-partner, and may have forensic implications. These phenomena are common but often unrecognized, misdiagnosed, or ignored in clinical practice. With increasing awareness of abnormal behaviors in sleep, the book fulfils the need for in-depth descriptions of clinical and research aspects of these disorders, including differential diagnosis, pathophysiology, morbidity, and functional consequences of each condition, where known. Appropriate behavioral and pharmacological treatments are addressed in detail. There are authoritative sections on disorders of arousal, parasomnias usually associated with REM sleep, sleep-related movement disorders and other variants, and therapy of parasomnias. Sleep specialists, neurologists, psychiatrists, psychologists and other healthcare professionals with an interest in sleep disorders will find this book essential reading.