Fabio Cirignotta

Nocturnal paroxysmal dystonia.

Sleep-related seizures characterised by choreoathetoid, dystonic and ballic movements occurred in 12 patients, repeatedly each night and over a period of years. The nocturnal attacks were short-lasting, responded well to carbamazepine and were sometimes associated with clearly or possibly epileptic seizures during night- or daytime. They resembled the paroxysmal kinesigenic dystonias of wakefulness. Similar dystonic-dyskinetic attacks, but of long duration and unresponsive to medication, were also observed in two other patients, in one 20 years before the onset of clinically apparent Huntingtons chorea. Nocturnal paroxysmal dystonia represents a syndrome of sleep-related motor attacks which comprises two variants, respectively characterised by short and long-lasting seizures. Its precise nosological definition still awaits elucidation.

Nocturnal Paroxysmal Dystonia with Short‐Lasting Attacks: Three Cases with Evidence for an Epileptic Frontal Lobe Origin of Seizures

The epileptic or nonepileptic origin of noctur‐ nal paroxysmal dystonia (NPD) has been debated. We studied three patients with frequent attacks during non‐REM sleep. During prolonged video‐EEG monitoring, two patients had a convulsive seizure after a typical NPD episode and on these occasions EEG showed epileptiform discharge. In the three patients, attacks occurred repeatedly with different intensity, representing “fragments” of the same seizure. These fragments of the attack could occur periodically every 20–40 s. We postulate that short NPD attacks are actually epileptic seizures originating from the frontal lobes. The rhythmicity of the episodes may be due to rhythmic oscillation of cortical function during non‐REM sleep.

Prevalence of every night snoring and obstructive sleep apnoeas among 30-69-year-old men in Bologna, Italy

ABSTRACT— An epidemiological survey of the prevalence of snoring and sleep apnoeas was performed on 3479 30‐69‐year‐old men living in Bologna, north‐east Italy. First a postal questionnaire was sent. It was returned with appropriate answers by 1170. A 20% random sample of those who did not answer were invited by telephone to return the questionnaire. Among these groups 119 (10%) and 19 (5.6%) respectively answered that they always snored. A random sample of 40 every‐night snorers were studied by polysomnography. Based on the frequency of every‐night snoring and the results of polysomnography we estimated that the minimal prevalence of sleep apnoea among 30‐69‐year‐old men was 2.7% considering an apnoea + hypopnoea index of 10 or more pathological. According to the Lugaresi classification we had a 2.5% prevalence of heavy snorers’ disease (HSD) Stage 1 or higher. These figures indicate that obstructive sleep apnoea during sleep is a major public health problem.

Sleep-related breathing impairment in myotonic dystrophy.

SummaryRespiratory failure has been described in myotonic dystrophy; it worsens during sleep but its central or peripheral origin has yet to be determined. Moreover, patients may present severely disturbed sleep and daytime somnolence. Eight patients with mild to moderate myotonic dystrophy were studied to assess breathing function while awake and during sleep by means of the pulmonary function tests, nocturnal polysomnographic examination and the multiple sleep latency test (MSLT). Three patients had restrictive respiratory defects; none had signs of airway obstruction. All patients had very disrupted nocturnal sleep. Of six patients who underwent the MSLT only two showed a mild tendency to sleep during the day. Six patients had pathological apnoea plus hypopnoea index [(A+H)I] and there was a prevalence of central apnoeas. The apnoeas occurred while resting but awake and throughout all sleep stages. Only two patients (the ones with the least vital capacity) had episodes of progressive oxygen desaturation during rapid eye movement sleep, similar to those found in other restrictive disorders and in chronic obstructive pulmonary disease. It is concluded that the breathing pattern characteristic of our myotonic dystrophy patients was the occurrence of central apnoeas both at rest while awake and during sleep.

Restless legs syndrome and nocturnal myoclonus: initial clinical manifestation of familial amyloid polyneuropathy.

Restless legs syndrome was the first isolated clinical manifestation in four siblings of a family with familial amyloid polyneuropathy. Clinical and electrophysiological evidence of peripheral neuropathy appeared after a variable time interval. Polysomnography showed abnormal sleep patterns and nocturnal myoclonus in all patients. The restless legs syndrome responded favourably to clonazepam.

Breathing During Sleep in Man in Normal and Pathological Conditions

This is a brief presentation of the data collected during ten years of research into the behavior of respiration, alveolar ventilation, and pulmonary and systemic arterial pressure during 1–8

Abnormal breathing in the Rett syndrome

Four girls affected with the Rett syndrome showed stereotyped hand movements and psychomotor regression beginning in the first or second year of life after initially normal development, with total loss of language, a severe gait, and chewing and swallowing disturbances. Breathing during active wakefulness was abnormal, with clusters of arrhythmic, tachypneic and irregular respiratory acts, intermixed with prolonged apneic episodes causing cyanosis and even fainting. On the other hand, breathing was regular during both NREM and REM sleep stages. Breathing impairment in the Rett syndrome is characterized by an inability to maintain normal respiratory patterns during wakefulness, and represents a functional disturbance of the behavioral control of breathing, which occurs during active wakefulness.

Paroxysmal periodic motor attacks during sleep: clinical and polygraphic features

Three patients complained of paroxysmal motor attacks during sleep. Videopolygraphic recordings showed that motor activity could be divided into events of increasing behavioural complexity. Simpler motor events often represented the initial fragment of more complex attacks. Clinical features suggested the attacks represented frontal lobe epileptic seizures. The attacks recurred during NREM sleep with a periodic repetition every 20-60 sec. This periodicity could be related to the analogous physiological oscillation during light sleep and the periodicity of K complexes, exerting a facilitating influence upon epileptic mechanisms.

Zolpidem-polysomnographic study of the effect of a new hypnotic drug in sleep apnea syndrome.

Clinical studies have shown that zolpidem, an original imidazopyridine derivative, induces and maintains sleep and does not have daytime side-effects. Polysomnography has revealed that this drug has several interesting qualities that benzodiazepines do not possess: stages 3-4 increase, stage 2 is unchanged or slightly reduced and no abnormal changes are detected on the EEG tracing. Like benzodiazepines, zolpidem slightly reduces REM sleep. The Multiple Sleep Latency Test confirmed that the drug does not cause daytime drowsiness. All the hypnotic drugs studied up to now worsen heavy snoring and obstructive sleep apnea syndrome. A controlled double blind cross-over trial assessed the effects of a single dose of zolpidem 20 mg on nocturnal breathing in patients with mild forms of sleep apnea syndrome. The results indicate that, at this dose, the drug does not overcome the existing contraindications to the use of hypnotics in this syndrome.

REM Sleep Behavioral Disorders

REM sleep behaviors were recently described as wild, dream-enacting behaviors during REM sleep with loss of usual atonia on submental muscles. We examined 6 patients (5 M, 1F) with characteristic episodes of behavioral manifestations during REM sleep. Polysomnographic data indicate a decrease in first REM latency, an absence of stage 4 NREM, altered phasic motor activity and behavioral episodes during REM sleep even with normal chin muscle atonia. Three patients had Shy-Drager syndrome, 1 olivopontocerebellar atrophy and 2 patients had no neurological disease. The crucial importance of a disinhibited locomotor system during sleep appears to be responsible for this REM parasomnia.