Carmela Casella

Sleep features in Tourette's syndrome, neuroacanthocytosis and Huntington's chorea

Twenty-one patients affected by extrapyramidal disorders were polygraphically recorded during spontaneous nocturnal sleep for two consecutive nights to assess their sleep and movement patterns. The patients (pts) sample included: Gilles de La Tourette syndrome (TS, nine pts), neuroacanthocytosis (NA, six pts) and Hungtingtons chorea (HC, six pts). Sleep recording included C3/A2, 01/A2, ROC/LOC, submental EMG, EKG, nasal airflow thoracoabdominal respirogram, bilateral anterior tibialis and other EMGs, in relation to the individual distribution of the abnormal movements. According to our observations, abnormal movements always decreased but never ceased completely during sleep. Sleep efficiency (SE) was nearly always poor with a high percentage of wakefulness after sleep onset (WASO) and increased number of arousals. REM sleep was often reduced and in some cases (3 TS pts) incompletely defined as far as its microstructural aspects. Slow wave sleep (SWS) was reduced in HC, normal in NA, and increased in all TS patients with the exception of the two adult subjects more severely affected, while the percentage of stage 2 was not affected. Spindling was increased in NA, HC and in the two most severely affected adult TS patients.

Neurogenic Ejaculatory Disorders: Focus on Current and Future Treatments

Ejaculation is a complex and still poorly understood neurological mechanism, at both spinal and cerebral levels as it is closely associated with orgasm. Physiologically, ejaculation is defined as the expulsion of seminal fluid from the urethral meatus and consists of two phases, namely emission and expulsion. Ejaculation is mediated by a spinal control center, referred to as a spinal pattern generator that coordinates sympathetic, parasympathetic and motor (somatic) outflows, integrating the latter with the inputs from the supraspinal sites in brainstem, hypothalamus and preoptic area. Premature ejaculation (PE) is the most common sexual dysfunction among young men, and it has been considered mostly psychogenic in origin, although it can be associated to diverse urological and neurological diseases. On the contrary, retrograde ejaculation and anejaculation are predominantly related to organic causes, particularly to neurogenic ones. Since ejaculation is mostly a spinal reflex, it is comprehensible that ejaculatory disorders are more frequent in spinal cord injury than in other neurological disorders. Over the past decades, research has focused on PE, and evidence from clinical studies showed a beneficial effect of antidepressants for the treatment of men with PE. Other ejaculatory disorders, especially painful ejaculation, have been less investigated and the proper therapy is still controversial. Aim of this review is to provide a comprehensive description of both currently available treatments and most promising future therapies, including assigned patents, for the neurogenic ejaculatory disorders.

Vagoglossopharyngeal neuralgia: a rare case of sincope responding to pregabalin

Glossopharyngeal neuralgia (GF) is a rare disease with a 1-year incidence of 0.7/100 000 (1). This condition is characterized by needling, intermittent and lancing pain in the distribution of ninth cranial nerve, induced by swallowing, chewing or touching. In 2% of cases, GF is associated with syncope or convulsive syncope, namely vagoglossopharyngeal neuralgia. Although GF is generally idiopathic, it has been reported with vascular malformation, compressive masses and demyelinating disease (2). As with trigeminal neuralgia, elective therapy consists of older anticonvulsants and, in particular, carbamazepine. Lamotrigine and gabapentin, however, have recently been shown to be efficacious in GF treatment (3, 4). In addition to these medications, pregabalin has been reported to be helpful in a case of typical GF (5). We report a case of GF with severe loss of consciousness, which has been successfully and rapidly treated with pregabalin.

Indole-3-Pyruvic Acid as a Possible Hypnotic Agent in Insomniac Subjects:

In a single-blind study six male patients (mean age 39.5 years) with moderate insomnia were treated with placebo for three nights, 100 mg indole-3-pyruvic acid (IPA) for three nights, 200 mg IPA for three nights, 100 mg IPA for two nights and placebo for two nights. Polygraphic recordings were made and total sleep time, sleep efficiency, sleep latency, slow wave sleep latency, rapid eye movement (REM) sleep latency, number of arousals (> 1 min), percentage and duration of wakefulness after sleep onset, percentage and duration of wakefulness after sleep onset, percentage and duration of sleep stages 1, 2, 3, 4 and REM were recorded. At the end of 13 days, total sleep time, duration of stage 2 sleep and total non-REM were significantly increased when compared with baseline. Total sleep time and duration of stage 2 and total non-REM sleep on completion were significantly decreased when compared with after 200 mg IPA (night 9). Results suggest an action of IPA on human sleep similar to that of exogenous melatonin and l-tryptophan, thus confirming that IPA could be used to increase serotonin and melatonin turnover.

Breakthroughs in the spasticity management: Are non-pharmacological treatments the future?

The present paper aims at providing an objective narrative review of the existing non-pharmacological treatments for spasticity. Whereas pharmacologic and conventional physiotherapy approaches result well effective in managing spasticity due to stroke, multiple sclerosis, traumatic brain injury, cerebral palsy and incomplete spinal cord injury, the real usefulness of the non-pharmacological ones is still debated. We performed a narrative literature review of the contribution of non-pharmacological treatments to spasticity management, focusing on the role of non-invasive neurostimulation protocols (NINM). Spasticity therapeutic options available to the physicians include various pharmacological and non-pharmacological approaches (including NINM and vibration therapy), aimed at achieving functional goals for patients and their caregivers. A successful treatment of spasticity depends on a clear comprehension of the underlying pathophysiology, the natural history, and the impact on patients performances. Even though further studies aimed at validating non-pharmacological treatments for spasticity should be fostered, there is growing evidence supporting the usefulness of non-pharmacologic approaches in significantly helping conventional treatments (physiotherapy and drugs) to reduce spasticity and improving patients quality of life. Hence, non-pharmacological treatments should be considered as a crucial part of an effective management of spasticity.

Cerebellar infarction in a patient with cerebral vein thrombosis and patent foramen ovale: brain-to-brain embolism?

Although the association between PFO and cryptogenic stroke is well shown in young adults, the causality is still unclear. The pathogenetic mechanism of ischemic stroke related to PFO is not entirely understood. Indeed, besides the well-known paradoxical embolism, formations of thrombi in situ, especially in the presence of ASA, a higher incidence of atrial fibrillation have been often observed. Cerebral sinus venous thrombosis may be due to local inflammation or to acquired or genetic thrombophilia including hyperhomocysteinemia. We report a case of a young man presenting with a cerebellar infarction probably secondary to a paradoxical brain-to-brain embolism, in which the only detectable embolic source was a cerebral vein thrombosis.

Neurovascular Complications of Ovarian Hyperstimulation Syndrome (OHSS): From Pathophysiology to Recent Treatment Options

Ovarian hyperstimulation syndrome (OHSS) is a severe iatrogenic complication of ovulation induction, which has a very serious impact on the patients health, as it is often associated with a high morbidity and mortality risk. Indeed, patients classified as having severe OHSS presented with liquid imbalance signs (such as rapid weight gain, tense ascites, respiratory difficulty and progressive oliguria), which are related to the fluid shift from the intravascular space to third space compartments subsequent to an increased capillary permeability. In this way, cardiovascular system findings include decreased intravascular volume, decreased blood pressure, decreased central venous perfusion, and compensatory increased heart rate and cardiac output with arterial vasodilation might be found concomitantly. Notwithstanding that venous thromboembolic phenomena are a possible complication in advanced phases of OHSS, arterial ischemia involving the cerebral circulation is a rare but recently reported problem. The pathogenesis of thromboembolism in OHSS is not fully understood, even though hemoconcentration and blood hyperviscosity seem to play a role in developing thrombotic changes into both venous and arterial system. Interestingly, the presence of cardiac abnormalities in combination with inherited or acquired hypercoagulable state seems to increase the risk of cerebral infarct in these subjects, as recently shown by our group. This review is aimed at investigating the pathomechanism and the management of neurovascular complications related to OHSS, including new treatment options.

Ischaemic stroke provoked by sexual intercourse

The association between long term risk factors and stroke has been well established, but very little is known about factors that may precipitate acute stroke. We describe two young women presenting with ischaemic stroke triggered by sexual intercourse. Patient 1 presented with a cardioembolic stroke probably secondary to the interaction between a patent foramen ovale and thrombophilic abnormalities; Patient 2, presenting with orgasmic headache, had a cryptogenic striatocapsular infarct. Sexual intercourse should be considered as an unusual, but possible, trigger of cerebral ischaemia, especially in young patients presenting with cryptogenic stroke.

Vascular compression from goiter as an unusual cause of cerebrovascular accident

The unusual case of a patient with goiter and left faciobrachiocrural paresis due to right temporoparietal infarction is reported. Cerebral angioscintigram and arteriography showed a brachiocephalic and right subclavian stenosis secondary to compression by an extended thyroid nodule.SommarioViene descritto un caso di emiparesi faciobrachiocrurale secondaria ad un evento ischemico a carico della regione temporoparietale destra in una paziente portatrice di gozzo retrosternale. Lo studio angioscintigrafico ed angiografico hanno messo in evidenza una stenosi del tronco brachiocefalico e della succlavia di destra dovuta a compressione da parte della neoformazione tiroidea.

Wake and sleep cardiovascular reflex tests and GH profiles in diabetic patients.

SummaryFourteen diabetic patients (13 males, 1 female, 7 IDDM and 7 NIDDM) were tested during wakefulness with a battery of tests examining parasympathetic and sympathetic control of the cardiovascular system. Subsequently sleep recordings including EEG, EOG, submental, left and right anterior tibialis EMGs, ECG, nasal airflow, thoracic and abdominal respirograms, nocturnal penile tumescence, were performed in each subject. The assessment of cardiovascular functions during sleep was based on the following parameters: Rbm, R-wake, apnea index, adequate penile tumescence during phase REM. Parasympathetic and sympathetic control of cardiovascular system were both impaired during wakefulness in only one patient, who also showed a low Rbm index indicative of ascertained autonomic neuropathy. Indices Rbm sufficiently low to be considered an evidence of probable autonomic neuropathy were found in 5 patients (3 IDDM and 2 NIDDM); all but one with normal cardiovascular tests during wakefulness. Five patients showed gross deficiency upon nocturnal penile tumescence monitoring. In comparison with a control group the patients showed a significantly lower overall Rbm index (p<0.001). IDDM patients showed an increased plasma GH response to insulin-induced hypoglycemia compared to NIDDM and normal subjects. Increased GH secretion was furthermore confirmed by GH values obtained in blood samples drawn during the first REM stage of the night in IDDM patients. The evaluation of the variables taken into consideration during sleep appears to be crucial for the assessment and prevention of autonomic neuropathies and neuroendocrine dysregulation in diabetic patients.