Harlequin syndrome: an association with overlap parasomnia.
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Aged↗
Biomedical subjects
G Coccagna
Publications and source records attributed to G Coccagna.
Motor pattern of periodic limb movements during sleep.
BACKGROUND: The pathophysiology of periodic limb movements in sleep (PLMS) in restless legs syndrome (RLS) is unclear. OBJECTIVE: The authors neurophysiologically investigated PLMS in patients with idiopathic RLS in order to obtain information on the origin and pathophysiology of the movements. METHODS: Ten patients with idiopathic RLS underwent electromyography with nerve conduction velocity (EMG-CV), somatosensory evoked potentials (SEPs), transcranial magnetic stimulation (TMS), nocturnal videopolysomnography, and multiple sleep latency test. The authors analyzed 100 consecutive PLMS for each patient to determine how frequently each muscle was involved in the PLMS; how frequently EMG activity started in a given muscle; and the time delay and pattern of activation between the first and the other activated muscles. RESULTS: EMG-CV, SEPs, and TMS findings were all normal; in PLMS, leg muscles were those more frequently involved, often with alternation of side. Axial muscles were rarely and upper limb muscles sometimes involved. The tibialis anterior was the most frequent starting muscle. There was no constant recruitment pattern from one PLMS episode to another, even in the same patient. There was no ordinate caudal or rostral spread of the EMG activity. CONCLUSION: The recruitment pattern indicates the engagement of different, independent, and sometimes unsynchronized generators for each PLMS. The authors hypothesize an abnormal hyperexcitability along the entire spinal cord, especially its lumbosacral and cervical segments, as the primary cause of PLMS, triggered by sleep-related factors located at a supraspinal but still unresolved level.
Aged↗
Studies of penetrance and anticipation in five autosomal-dominant restless legs syndrome pedigrees.
Restless legs syndrome (RLS) can occur with an autosomal-dominant mode of inheritance. To determine if there are distinguishing features of RLS pedigrees which might clarify molecular mechanisms of pathogenesis, five pedigrees with 81 affected members were analyzed for age of onset, sex ratio, and transmission pattern. One-factor analysis of variance of ages of onset between generations was carried out, and segregation ratios were calculated for each generation. These kindreds showed an autosomal-dominant mode of inheritance and a male:female ratio of 1:1.4 (p = 0.15). One of the five analyzed pedigrees shows some evidence of reduced penetrance. In two of the five analyzed pedigrees, there is statistical support for anticipation (p<0.05). These variations in penetrance and anticipation suggest possible genetic heterogeneity.
Adolescent↗
A case of sinus arrest and vagal overactivity during REM sleep.
A young man presented with tachycardia and faintness after an episode of influenza. He underwent 24-h heart rate recordings, each of which documented episodes of sinus arrest lasting up to 7.2 seconds. All episodes occurred in the second half of the night and were always accompanied by severe bradycardia. Cardiac function tests failed to disclose anything abnormal. Two polysomnographic recordings demonstrated that the sinus arrests occurred during REM sleep. Power spectral analysis of heart rate variability showed that during the second half of the night there was an abnormal prevalence of vagal activity, particularly during REM sleep stages, presumably responsible for the bradycardia and fall in blood pressure. We speculate that the episodes of sinus arrest are linked to a central mechanism that triggers the autonomic imbalance during REM sleep.
Adult↗
Paroxysmal atrial fibrillation in sleep.
Thirty-eight patients with lone paroxysmal atrial fibrillation (PAF) were monitored during spontaneous sleep. The starts of 111 episodes of atrial fibrillation (AF) occurred in 12 patients. Statistical analysis failed to disclose significant differences in the number of starts per hour between wakefulness and the different sleep stages. Heart rate (HR) in the 60 seconds prior to a PAF episode did not show significant changes with respect to fragments of recording taken away from PAF episodes. As expected, spectral analysis of HR variability during sleep (basal values) showed a reduction of low frequency/high frequency (LF/HF) ratio during slow sleep, while the ratio returned to values similar to wake levels during REM sleep. In the 2 minutes preceding a PAF episode the LF/HF ratio of the spectral power was more unstable with a clear-cut prevalence of sympathetic activity both in wake and in different sleep stages. A shift toward parasympathetic activation was never seen before the start of any of the 17 PAF episodes recorded during sleep.
Adult↗
Evolution of segmental myoclonus during sleep: polygraphic study of two cases.
We describe the sleep evolution of two cases of segmental myoclonus. The first patient had symptomatic palatal myoclonus which, as in most reported cases, persisted during sleep with a slight but significant reduction in frequency. The second patient presented apparently essential spinal myoclonus, which disappeared on falling asleep and recurred for short periods during arousals. This patient also had nocturnal myoclonus involving the legs, as well as those muscles affected by spinal myoclonus. The physiopathological significance of this unusual association is discussed.
Adult↗
Haemodynamics during sleep: old results and new perspectives.
After the advent of polygraphic recordings in the 1960s a great deal of interest focused on cardiocirculatory and respiratory activity during sleep. The Bologna sleep laboratory was the first to make direct recordings of systemic arterial pressure, pulmonary arterial pressure and alveolar ventilation in normal subjects, measuring gas-blood values during different sleep stages. In the 1960s, neurophysiologists rediscovered a syndrome known to pneumologists for a decade as Pickwickian Syndrome. Polygraphic studies performed in sleep laboratoires all over Europe (Germany, France and Italy) led to a major discovery: the syndrome was not caused by respiratory overload due to obesity, but usually by the presence of obstructive apnoeas arising during sleep. By means of continuous sleep recordings, our laboratory documented the severe repercussions of apnoeas on ventilatory and cardiocirculatory functions. Hypnologists pointed to tracheostomy as the logical effective treatment for the syndrome. Surgery was first performed in Germany by Kuhlo and coworkers and then in Bologna. In the early 1970s, following the Bologna group's research, there emerged the now accepted concept that obstruction of the upper airways is a continuum stretching from snoring to full-blown sleep apnoea syndrome. The Bologna team was also the first to conduct epidemiological surveys that indicated that snoring is a relevant risk factor for the cardiocirculatory system. Here the trends of haemodynamic and ventilatory parameters during sleep are investigated in syndromes of obstructive respiratory failure. The conclusion is that sleep, particularly REM-sleep, exacerbates all these disorders, and the topic provides a basis for a wider look at how cardiocirculatory activity varies during sleep under normal and pathological conditions.
Journal Article↗
[Epidemiologic study on the effectiveness and safety of dihydroergocristine in impaired memory and behavioral functions in aged humans].
Aim of the study was to assess the activity of dihydroergocristine (DHEC, CAS 17479-19-5) in aged patients with impaired cognitive function. Twenty-five university hospital centres and 250 physicians participated in the study. 2,600 patients (1,104 males and 1,496 females, age range 50-80 years) were admitted to the study. Each patient was administered 6 mg/d DHEC for 120 days. Clinical evaluation was made through the SCAG Rating Scale registered at basal time, after 60 and 120 days. Responsivity to treatment was considered high when the final score was reduced by 30% and none if less than 10%. Analysis of results demonstrated that at the end of the study responsivity was high in 73% of cases, moderate in 20.4% and absent in 6.5%. Tolerability was very good as side effects were reported only in 3.16% of patients. Most frequent side effects were: nausea (1.23%), gastralgia (1.11%), headache (0.29%), hypotension (0.12%), vertigo (0.12%) and rash (0.08%). Drop-outs for gastralgia were reported only in 0.53% of the patients.
Aged↗
Sneddon syndrome presenting with hemicranic attacks: a case report.
The case of a young woman suffering from a rare cerebrovascular disease associated with livedo reticularis (Sneddon syndrome) is reported. Hemicranic attacks were the first symptom detected. The patient had a progressive clinical course of neurologic symptoms. Cerebral CT scan, NMR and cerebral arteriography revealed a progressive cerebral multifarctual feature involving middle-size arteries.
Adult↗
Sleep apneas, convulsive syncopes and autonomic impairment in type I Arnold-Chiari malformation.
A 51-year-old man with type I Arnold-Chiari malformation presented with severe autonomic impairment. Polysomnography disclosed central and obstructive sleep apneas. During REM sleep apneas were accompanied by hypotension and led to convulsive nonepileptic attacks. Marked blood pressure oscillations and central apneas persisted after tracheostomy.
Arnold-Chiari Malformation↗
Drug-induced tremor of the tongue.
Two cases are reported in which a transient tremor of the tongue followed treatment with thioridazine and flunarizine. The finding of this kyperkinesia as the only extrapyramidal side-effect of drug therapy is uncommon.
Female↗
Nocturnal myoclonus, restless legs syndrome, and abnormal electrophysiological findings.
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H-Reflex↗
Sleep-related breathing impairment in myotonic dystrophy.
Respiratory 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.
Adult↗
Nocturnal myoclonus and restless legs syndrome.
Nocturnal myoclonus (or periodic movements in sleep) consists of stereotyped sleep-related movements of the lower limbs and occasionally also upper limbs, ranging from simple dorsiflexion of the big toe and foot to a triple flexion of the entire leg. It is characterized by a typical periodicity, often occurring in association with sleep arousal phenomena. As an isolated finding (essential nocturnal myoclonus), it represents a paraphysiological phenomenon, also found in normal subjects and developing with advancing age. On the other hand, symptomatic nocturnal myoclonus is typically associated with restless legs syndrome; in this condition, it is usually severe and present also during wakefulness. The exact site of origin of nocturnal myoclonus is unknown. It is almost certainly a subcortical phenomenon, probably modulated in its periodicity by reticular influences. It has frequently been confused with, and should be clearly differentiated from, other normal jerking movements of sleep, such as partial myoclonic jerks and massive myoclonic jerks, or sleep starts. Other abnormal movements that may be confused with nocturnal myoclonus are the startles of hyperekplexia, the syndrome of painful legs and moving toes, nocturnal leg cramps, and the numerous varieties of epileptic myoclonus.
Adult↗
Sleep-related respiratory and haemodynamic changes in Shy-Drager syndrome: a case report.
The sleep-related respiratory and blood pressure changes in a patient with Shy-Drager syndrome associated with the sleep apnoea syndrome are reported. Polygraphic recordings showed repeated apnoeic episodes during both sleep and wakefulness. Systemic arterial pressure values during sleep tended to be lower than in two other patients with Shy-Drager syndrome, and, unlike observations in the sleep apnoea syndrome, nocturnal swings of arterial pressure related to obstructive apnoea were markedly reduced. As a result, the total sleep time was reduced; a sleep with several features similar to REM stage was identified; during this stage the arterial pressure reached the lowest levels recorded. A review of the literature revealed that nocturnal respiratory disturbances were detectable in a high percentage of patients with Shy-Drager syndrome. We suggest that such an association is not a chance one.
Aldosterone↗
Neuropsychological and EEG evaluation in exposure to trichloroethylene.
After 1 year of exposure to trichloroethylene, reversible neuropsychological impairment and persistent EEG paroxysms were observed in one patient. The improvement of neuropsychological performances and the persistence of severe EEG abnormalities after withdrawal of the toxin suggest "functional" cerebral damage after prolonged exposure to trichloroethylene.
Brain Diseases↗