Pasquale Montagna

..To describe the clinical and polygraphic features of propriospinal myoclonus (PSM) at sleep onset...

....

..Pharmacogenomic studies of headache and pain are still in their infancy, but these recent advances in the genetics of migraine and pain arguably hold the promise of individualised treatments and prevention of adverse drug reactions...

..Epigenetic mechanisms and this proposed genetic behavioural model could be usefully incorporated into headache genetic research...

....

..To investigate the behavioural and neurophysiological pattern of cataplexy...

..However, cataplexy was associated with co-activation of sympathetic and parasympathetic autonomic systems, a pattern reminiscent of that reported during the vigilance reaction in animals...

..PH resolved with serotonergic (citalopram) therapy...

....

..This study aimed to verify whether relatives of patients with NFLE have a higher frequency of parasomnias, namely arousal disorders, and thereby shed light on the still unknown pathophysiologic mechanisms underlying NFLE...

..These data indicate that the hypocretin deficit in drug-free NC patients and their altered wake-sleep cycle couple with an intact modulation of BcT...

..In one patient, alternating leg muscle activation was also present. Jerks with a PSM pattern represent another motor phenomenon associated with RLS and different from the more usual PLMS...

..Gerstmann-Sträussler-Scheinker (GSS) disease is a hereditary prion disease featuring cerebellar ataxia, akinetic parkinsonism, pyramidal signs and cognitive decline...

..The results obtained in this pilot study need, however, to be confirmed in a larger study involving more patients...

..Further investigations on pathophysiology, genetics and epidemiology are needed to clarify the relationship between epileptic and non-epileptic sleep related paroxysmal phenomena...

..To assess the distribution across nocturnal sleep of slow eye movements (SEMs)...

..The aim of our study was to investigate the prevalence of sleep disorders in chronic headache patients and to evaluate the role of psychiatric comorbidity in the association between chronic headache and sleep complaints...

..We present two patients, a 52-year-old man and a 56-year-old woman, with rapid eye movement sleep behaviour disorder (RBD) since the age of 50...

....

..We investigated PLMS-related EEG and HR variations in multiple system atrophy (MSA) in order to detect possible abnormalities in cortical and autonomic arousal responses...

..To investigate the mechanisms underlying myoclonus in Leber hereditary optic neuropathy (LHON)...

..Morvan chorea is an antibody-mediated limbic encephalopathy characterized by severe insomnia, mental confusion, hallucinations, enacted dreams, hyperhidrosis, and neuromyotonia...

....

..Stridor was associated with other abnormal sleep-related respiratory and motor disorders, suggesting an impairment of homeostatic brainstem integration in MSA...

..The combination of SusSL and SL determination at MSLT should be tested as an additional objective differential criterion for EDS disorders...

..To describe the clinical and videopolysomnographic characteristics of nocturnal eating episodes in sleep-related eating disorder...

....

..Beneficial effects were still present after two years of treatment. Our case demonstrates that zolpidem may be beneficial in the long term treatment of idiopathic central sleep apnoea syndrome...

..To contribute to the anthropometric and metabolic phenotyping of orexin-A-deficient narcoleptic patients, and to explore a possible risk of their developing a metabolic syndrome...

..The exaggerated inhibition in patients with phobia to blood/injury may be a factor predisposing to syncope in those patients...

..To assess whether family history for chronic headache (CH) and drug overuse could represent a risk factor for headache chronification...

..Thereafter we will briefly discuss how the process of pre-dormitum and post-dormitum can lead to such disruption of motor control...

..We demonstrate an association between RLS and SRED. Prospective studies are needed to establish the mechanisms underlying such association and whether it is causal...

..To our knowledge, this is the first report on a self-help group for patients with MOH. Joining a self-help group can help patients develop positive attitudes to managing pain...

..Our data partially support the recent report of the efficacy of IVIg treatment in early diagnosed narcolepsy with cataplexy and support the need for a controlled multicenter clinical trial on IVIg in narcolepsy...

..We propose that, on the basis of the clinical and EMG features, SFMM may be considered a distinct disorder and different from sleep bruxism...

..We anticipate that these studies will lead to many other investigations addressing the role of mRGCs and circadian photoreception in the pathogenesis of circadian and sleep abnormalities in neurodegenerative disorders...

..Our findings suggest that females with FD, although asymptomatic, may have somatic and autonomic small fiber neuropathy...

..In conclusion, our studydoes not provide evidence that the 5HTT, 5-HT1A, 5HT1B,5HT2A and 5HT6 gene polymorphisms play a role in the genetic predisposition to MOH...

..Genetic studies in humans evidenced a role for the hypocretinergic system in cluster headache (CH)...

..Intriguing clinicopathological correlations in FFI and SFI suggest a role for the thalamolimbic system in the regulation of sleep and other circadian functions...

..Other cortical-networks involving the limbic system may explain, for instance, primitive behaviors. The role of the cholinergic system and related pathways in the pathogenesis of nocturnal seizures and parasomnias is also discussed...

....

..Our case confirms a recent retrospective report of augmentation of RLS after treatment with tramadol, and begs the question whether augmentation is truly restricted to dopaminergic drugs...

....

..We have developed an automatic method for the detection of SEMs. In the present preliminary work we compare standard measurement of EDS with visual and automatic detection of SEMs, both performed on MSLT recordings...

....

....

..Plasmapheresis substantially reduced the frequency and intensity of axial myoclonic jerks. In our patient, propriospinal myoclonus was associated with anti-MAG polyneuropathy, but the causal relationship remains unclear...

....

..In contrast with the previous literature we did not find any difference in the prevalence of mood and eating disorders...

..Genetic variability at the DRD4 gene is involved in the predisposition to episodic MO but not to DA, while liability to CDHDA may involve genetic variability at the DAT gene in comparison with episodic MO...

..Advances in the fields of genetics, neuroimaging, and behavioural neurology will expand the understanding of the mechanisms underlying the organization of the states of being along with their somatic/behavioural manifestations...

....

..Sympathetic skin response (SSR) and skin vasomotor response (SVR) habituation was thought to be induced by neural mechanisms. Here, we investigate the hypothesis that non-neural mechanisms could also be involved...

..This case is the first report in which RLS augmentation is shown to be characterized by motor hyperkinesias paralleling levodopa plasma pharmacokinetic profile...

..The objective of this study is to present a view of the primary headaches as genetically determined behavioral responses consistent with sickness behavior and defense reaction, respectively...

..The source of disagreement probably lies in the difficulty in interpreting patients' reports. For these parasomnias IR must be verified and possibly improved with training...

....

..Among the current treatment options offered for the treatment of RLS, dopaminergic agents have provided the best evidence for efficacy in symptom relief...

..The reciprocal relation between breathing, heart and motor system abnormalities during sleep was studied in multiple system atrophy (MSA) by means of video-polysomnographic recordings (VPSG)...

....

....

..Here, we investigated the association between RLS and cardiovascular events risk and laboratory parameters in end-stage kidney disease (ESKD) patients on dialysis...

..This peculiar autonomic dysfunction may represent a hallmark for ADLD...

..The minimum set of indicators of disease severity correlating with patients' self assessments encourages a disability classification of narcolepsy...

..The identification of a new OPA locus (OPA8) in this pedigree demonstrates further genetic heterogeneity in DOA, and our results indicate that the pathogenesis may still involve mitochondria...

..We discuss the association between restless legs syndrome and rhythmic movement disorder as a particular manifestation of a spectrum of rhythmic sleep-related movement disorders...

..This result suggests that EOG activity may be used to monitor sleepiness and sleep onset and to predict decrease in behavioral performances associated with drowsiness...

..To investigate the occurrence of restless legs syndrome (RLS) in narcolepsy with cataplexy (NC)...

..The proposed method may be a valuable tool for computerized EOG analysis...

..Our data indicate that the neurodegenerative process associated with FFI begins in the thalamus between 13 and 21 months before the clinical presentation of the disease...

..To ascertain the presence of abnormalities of sleep in patients with continuous motor unit activity with and without symptoms of central nervous system involvement...

..The subacute levodopa challenge was accompanied by physiologic sleep episodes, worsened reaction times, and a reduction in mean blood pressure and heart rate over baseline values, linked temporally to the sleep episodes...

..This hypothesis, still speculative, may offer a more coherent view of migraine as an adaptive biobehavioural response triggered by a threatened brain...

..While CPAP markedly lowered daytime muscle sympathetic nerve activity (MSNA) and blood pressure (BP), findings after UPPP were comparable to pre-treatment baseline. Thus, parallel changes in MSNA and BP demonstrated treatment efficacy...

..This review summarizes the state of endozepine physiology and pharmacology and the clinical syndromes attributed to their involvement. A diagnostic work-up to define endozepine-induced recurrent stupor is suggested...

..The absence of (1)H-MRS neurodegenerative changes in the thalamus and cerebral cortex suggests that the abnormalities detected in these brain regions by other neuroimaging techniques are likely of functional nature...

..Both sequences should be routinely included in the clinical work-up of patients with suspected prion disease...

..Experimental and clinical evidence in prion diseases suggests that the prion protein gene (PRNP) plays a role in regulating sleep...

..The aim of this study was to report that late recovery with moderate disability is possible, even after several months in vegetative state...

..This behavioural model could be incorporated into migraine genetic research...

..We investigated the prevalence of nocturnal smoking (NS) in patients with RLS...

..Our MRS results showed that a multisystem energy metabolism defect in FHM2 is associated with microstructural cerebellar changes detected by DWI, even before the onset of cerebellar symptoms...

..Isolated GA induced by degeneration of postganglionic sympathetic nerve fibers, directly evaluated by skin biopsy, has not previously been described...

..The aim of this study is to report the first microneurographic recordings of sympathetic activity in acquired and genetic AE to investigate the pattern of sympathetic activation...

..In this study, involvement of the SPG11 or 8p12-p11.21 loci was investigated in five Italian families, of which four consanguineous...

..The study did not confirm the presence of a morning and evening preference among migraineurs as previously reported...

..On the basis of these findings, we suggest that a neuronal network, extending from the medulla to the limbic cortex, controls the sleep-wake cycle, operating in an integrated fashion following a caudorostral organization...

..To test the autonomic control of cardiovascular reflexes and heart rate variability (HRV) at rest and during orthostatic stress in narcolepsy with cataplexy (NC)...

....

..e., we have to categorize migraine not only as a type of headache attack but also as a symptom of different syndromes...

..In the same region, two other forms of HSP have been recently mapped: SPG27 and SPG33. In the latter case, the gene responsible has been identified...

..We describe six patients affected by frequent episodes from sleep associated with compulsive smoking and/or eating. Patients woke up with a desire to smoke and/or eat because of an "inner" drive...

..Reversal of paraparesis by idebenone was paralleled by normalization of 31P-MRS, serum lactate and central motor conduction. Extra-ocular neurological dysfunction in LHON may be amenable to treatment by appropriate quinones...

..These findings indicate a tissue specific distribution of the biochemical expression of the G3460A LHON mutation and suggest that extramitochondrial factors, such as nuclear genes, may influence expression of this mutation in vivo...

..Lod scores for linkage to 19p13 were negative, while the maximum two-point lod score was 1.81 to 1q21-23. This family with FHM and associated subtle cerebellar signs, epilepsy and mental retardation showed probable linkage to 1q21-23...

..Electromyography showed spontaneous activity characterized by irregular discharges of single motor unit potentials and myokymia from PB muscle that did not disappear after ulnar nerve block at the wrist, suggesting a distal lesion...

..A polysomnographic study showed normal sleep patterns and circadian rhythms in a patient with ataxic type GSS. Our results suggest that sleep and circadian rhythm changes in prion diseases are due to the involvement of specific brain areas...

..Hypothalamic NAA/creatine-phosphocreatine was reduced in narcoleptic patients compared with control subjects (p < 0.01). Hypothalamic neuronal loss/damage is a central pathogenetic feature in narcolepsy...