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ABSTRACT: Sleep disturbances are globally more frequent in patients with spinal cord injury (SCI) than in the able-bodied population, and could contribute to dysfunction and poor quality of life in these patients. Specific sleep disorders may also contribute to negative health outcomes enhancing cardiovascular risk in a condition that per se increases heart disease related mortality. This review focuses on prevalence, features and treatment of sleep disorders in SCI. Although data on these subjects have been produced, reports on pathophysiology, consequences and treatment of sleep disorders are scarce or contradictory and more studies are required.
Sleep Medicine Reviews 04/2013; · 6.93 Impact Factor
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Gianina Luca,
José Haba-Rubio,
Yves Dauvilliers,
Gert-Jan Lammers,
Sebastiaan Overeem,
Claire E Donjacour,
Geert Mayer,
Sirous Javidi,
Alex Iranzo,
Joan Santamaria, [......],
Raphael Heinzer,
Poul Jennum,
Stine Knudsen,
Peter Geisler,
Aleksandra Wierzbicka,
Eva Feketeova,
Corinne Pfister,
Ramin Khatami,
Christian Baumann,
Mehdi Tafti
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ABSTRACT: The aim of this study was to describe the clinical and PSG characteristics of narcolepsy with cataplexy and their genetic predisposition by using the retrospective patient database of the European Narcolepsy Network (EU-NN). We have analysed retrospective data of 1099 patients with narcolepsy diagnosed according to International Classification of Sleep Disorders-2. Demographic and clinical characteristics, polysomnography and multiple sleep latency test data, hypocretin-1 levels, and genome-wide genotypes were available. We found a significantly lower age at sleepiness onset (men versus women: 23.74 ± 12.43 versus 21.49 ± 11.83, P = 0.003) and longer diagnostic delay in women (men versus women: 13.82 ± 13.79 versus 15.62 ± 14.94, P = 0.044). The mean diagnostic delay was 14.63 ± 14.31 years, and longer delay was associated with higher body mass index. The best predictors of short diagnostic delay were young age at diagnosis, cataplexy as the first symptom and higher frequency of cataplexy attacks. The mean multiple sleep latency negatively correlated with Epworth Sleepiness Scale (ESS) and with the number of sleep-onset rapid eye movement periods (SOREMPs), but none of the polysomnographic variables was associated with subjective or objective measures of sleepiness. Variant rs2859998 in UBXN2B gene showed a strong association (P = 1.28E-07) with the age at onset of excessive daytime sleepiness, and rs12425451 near the transcription factor TEAD4 (P = 1.97E-07) with the age at onset of cataplexy. Altogether, our results indicate that the diagnostic delay remains extremely long, age and gender substantially affect symptoms, and that a genetic predisposition affects the age at onset of symptoms.
Journal of Sleep Research 03/2013; · 3.16 Impact Factor
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Juliette Faraco,
Ling Lin,
Birgitte Rahbek Kornum,
Eimear E Kenny,
Gosia Trynka,
Mali Einen,
Tom J Rico,
Peter Lichtner,
Yves Dauvilliers,
Isabelle Arnulf, [......],
Maxime Breban,
Christian Gieger,
Norman Klopp,
Panos Deloukas,
Cisca Wijmenga,
Joachim Hallmayer,
Suna Onengut-Gumuscu,
Stephen S Rich,
Juliane Winkelmann,
Emmanuel Mignot
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ABSTRACT: Recent advances in the identification of susceptibility genes and environmental exposures provide broad support for a post-infectious autoimmune basis for narcolepsy/hypocretin (orexin) deficiency. We genotyped loci associated with other autoimmune and inflammatory diseases in 1,886 individuals with hypocretin-deficient narcolepsy and 10,421 controls, all of European ancestry, using a custom genotyping array (ImmunoChip). Three loci located outside the Human Leukocyte Antigen (HLA) region on chromosome 6 were significantly associated with disease risk. In addition to a strong signal in the T cell receptor alpha (TRA@), variants in two additional narcolepsy loci, Cathepsin H () and Tumor necrosis factor (ligand) superfamily member 4 (, also called ), attained genome-wide significance. These findings underline the importance of antigen presentation by HLA Class II to T cells in the pathophysiology of this autoimmune disease.
PLoS Genetics 02/2013; 9(2):e1003270. · 8.69 Impact Factor
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Francesca Poli, Fabio Pizza,
Emmanuel Mignot,
Raffaele Ferri,
Uberto Pagotto,
Shahrad Taheri,
Elena Finotti,
Filippo Bernardi,
Piero Pirazzoli,
Alessandro Cicognani,
Antonio Balsamo,
Lino Nobili,
Oliviero Bruni,
Giuseppe Plazzi
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ABSTRACT: STUDY OBJECTIVES: We analyzed the potential predictive factors for precocious puberty, observed in some cases of childhood narcolepsy with cataplexy (NC) and for obesity, a much more common feature of NC, through a systematic assessment of pubertal staging, body mass index (BMI), and metabolic/endocrine biochemical analyses. DESIGN: Cross-sectional on consecutive recruitment. SETTING: Hospital sleep center and pediatric unit. PATIENTS: Forty-three children and adolescents with NC versus 52 age-matched obese children as controls. INTERVENTIONS: N/A. MEASUREMENTS AND RESULTS: Patients underwent clinical interview, polysomnographic recordings, cerebrospinal fluid hypocretin-1 measurement, and human leukocyte antigen typing. Height, weight, arterial blood pressure, and Tanner pubertal stage were evaluated. Plasma lipid and glucose profiles were analyzed. When an altered pubertal development was clinically suspected, plasma concentrations of hypothalamic-pituitary-gonadal axis hormones were determined. Children with NC showed a high prevalence of overweight/obesity (74%) and a higher occurrence of precocious puberty (17%) than obese controls (1.9%). Isolated signs of accelerated pubertal development (thelarche, pubic hair, advanced bone age) were also present (41%). Precocious puberty was significantly predicted by a younger age at first NC symptom onset but not by overweight/obesity or other factors. In addition, overweight/obesity was predicted by younger age at diagnosis; additional predictors were found for overweight/obesity (short disease duration, younger age at weight gain and lower high-density lipoprotein cholesterol), which did not include precocious puberty. NC symptoms, pubertal signs appearance, and body weight gain developed in close temporal sequence. CONCLUSIONS: NC occurring during prepubertal age is frequently accompanied by precocious puberty and overweight/obesity, suggesting an extended hypothalamic dysfunction. The severity of these comorbidities and the potential related risks require a multidiagnostic approach and a tailored therapeutic management. CITATION: Poli F; Pizza F; Mignot E; Ferri R; Pagotto U; Taheri S; Finotti E; Bernardi F; Pirazzoli P; Cicognani A; Balsamo A; Nobili L; Bruni O; Plazzi G. High prevalence of precocious puberty and obesity in childhood narcolepsy with cataplexy. SLEEP 2013;36(2):175-181.
Sleep 01/2013; 36(2):175-181. · 5.05 Impact Factor
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Giovanni Rizzo,
Caterina Tonon,
Claudia Testa,
David Manners,
Roberto Vetrugno, Fabio Pizza,
Sara Marconi,
Emil Malucelli,
Federica Provini,
Giuseppe Plazzi,
Pasquale Montagna,
Raffaele Lodi
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ABSTRACT: Pathophysiology of restless legs syndrome is poorly understood. A role of the thalamus, specifically of its medial portion which is a part of the limbic system, was suggested by functional magnetic resonance imaging and positron emission tomography studies. The aim of this study was to evaluate medial thalamus metabolism and structural integrity in patients with idiopathic restless legs syndrome using a multimodal magnetic resonance approach, including proton magnetic resonance spectroscopy, diffusion tensor imaging, voxel-based morphometry and volumetric and shape analysis. Twenty-three patients and 19 healthy controls were studied in a 1.5 T system. Single voxel proton magnetic resonance spectra were acquired in the medial region of the thalamus. In diffusion tensor examination, mean diffusivity and fractional anisotropy were determined at the level of medial thalamus using regions of interest delineated to outline the same parenchyma studied by spectroscopy. Voxel-based morphometry was performed focusing the analysis on the thalamus. Thalamic volumes were obtained using FMRIB's Integrated Registration and Segmentation Tool software, and shape analysis was performed using the FMRIB Software Library tools. Proton magnetic resonance spectroscopy study disclosed a significantly reduced N-acetylaspartate:creatine ratio and N-acetylaspartate concentrations in the medial thalamus of patients with restless legs syndrome compared with healthy controls (P < 0.01 for both variable). Lower N-acetylaspartate concentrations were significantly associated with a family history of restless legs syndrome (β = -0.49; P = 0.018). On the contrary, diffusion tensor imaging, voxel-based morphometry and volumetric and shape analysis of the thalami did not show differences between the two groups. Proton magnetic resonance spectroscopic findings in patients with restless legs syndrome indicate an involvement of medial thalamic nuclei of a functional nature; however, the other structural techniques of the same region did not show any changes. These findings support the hypothesis that dysfunction of the limbic system plays a role in the pathophysiology of idiopathic restless legs syndrome.
Brain 11/2012; · 9.46 Impact Factor
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ABSTRACT: We investigated nocturnal sleep abnormalities in 19 patients with idiopathic hypersomnia without long sleep time (IH) in comparison with two age- and sex- matched control groups of 13 normal subjects (C) and of 17 patients with narcolepsy with cataplexy (NC), the latter considered as the extreme of excessive daytime sleepiness (EDS). Sleep macro- and micro- (i.e. cyclic alternating pattern, CAP) structure as well as quantitative analysis of EEG, of periodic leg movements during sleep (PLMS), and of muscle tone during REM sleep were compared across groups. IH and NC patients slept more than C subjects, but IH showed the highest levels of sleep fragmentation (e.g. awakenings), associated with a CAP rate higher than NC during lighter sleep stages and lower than C during slow wave sleep respectively, and with the highest relative amount of A3 and the lowest of A1 subtypes. IH showed a delta power in between C and NC groups, whereas muscle tone and PLMS had normal characteristics. A peculiar profile of microstructural sleep abnormalities may contribute to sleep fragmentation and, possibly, EDS in IH.
Journal of Sleep Research 10/2012; · 3.16 Impact Factor
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ABSTRACT: Skin biopsy has gained widespread use for the diagnosis of somatic small-fiber neuropathy, but it also provides information on sympathetic fiber morphology. We aimed to ascertain the diagnostic accuracy of skin biopsy in disclosing sympathetic nerve abnormalities in patients with autonomic neuropathy. Peripheral nerve fiber autonomic involvement was confirmed by routine autonomic laboratory test abnormalities. Punch skin biopsies were taken from the thigh and lower leg of 28 patients with various types of autonomic neuropathy for quantitative evaluation of skin autonomic innervation. Results were compared with scores obtained from 32 age-matched healthy controls and 25 patients with somatic neuropathy. The autonomic cutoff score was calculated using the receiver operating characteristic curve analysis. Skin biopsy disclosed a significant autonomic innervation decrease in autonomic neuropathy patients versus controls and somatic neuropathy patients. Autonomic innervation density was abnormal in 96% of patients in the lower leg and in 79% of patients in the thigh. The abnormal findings disclosed by routine autonomic tests ranged from 48% to 82%. These data indicate the high sensitivity and specificity of skin biopsy in detecting sympathetic abnormalities; this method should be useful for the diagnosis of autonomic neuropathy, together with currently available routine autonomic testing.
Journal of Neuropathology and Experimental Neurology 10/2012; 71(11):1000-8. · 4.26 Impact Factor
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ABSTRACT: In the diagnostic work-up of hypersomnias of central origin, the complaint of excessive daytime sleepiness should be objectively confirmed by MSLT findings. Indeed, the features and diagnostic utility of spontaneous daytime sleep at 24 h continuous polysomnography (PSG) have never been investigated. We compared daytime PSG features to MSLT data in 98 consecutive patients presenting with excessive daytime sleepiness and with a final diagnosis of narcolepsy with cataplexy/hypocretin deficiency (n = 39), narcolepsy without cataplexy (n = 7), idiopathic hypersomnia without long sleep time (n = 19), and 'hypersomnia' with normal sleep latency at MSLT (n = 33). Daytime sleep time was significantly higher in narcolepsy-cataplexy but similar in the other groups. Receiver operating characteristics (ROC) curves showed that the number of naps during daytime PSG predicted a mean sleep latency ≤8 min at MSLT with an area under the curve of 0.67 ± 0.05 (P = 0.005). The number of daytime sleep-onset REM periods (SOREMPs) in spontaneous naps strikingly predicted the scheduled occurrence of two or more SOREMPs at MSLT, with an area under the ROC curve of 0.93 ± 0.03 (P < 10(-12) ). One spontaneous SOREMP during daytime had a sensitivity of 96% with specificity of 74%, whereas two SOREMPs had a sensitivity of 75%, with a specificity of 95% for a pathological REM sleep propensity at MSLT. The features of spontaneous daytime sleep well correlated with MSLT findings. Notably, the occurrence of multiple spontaneous SOREMPs during daytime clearly identified patients with narcolepsy, as well as during the MSLT.
Journal of Sleep Research 06/2012; · 3.16 Impact Factor
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ABSTRACT: Sleep-disordered breathing (SDB) negatively impacts stroke outcome. Near-infrared spectroscopy showed the acute cerebral hemodynamic effects of SDB.
Eleven patients (7 men, age 61±13 years) with acute/subacute middle cerebral artery stroke (National Institutes of Health Stroke Scale score 10±7) and SDB (apnea-hypopnea index 32±28/hour) were assessed with nocturnal polysomnography and bilateral near-infrared spectroscopy recording. Cerebral oxygenation and hemoglobin concentration changes during obstructive and central apneas were analyzed.
During SDB, near-infrared spectroscopy showed asymmetrical patterns of cerebral oxygenation and hemoglobin concentrations with changes significantly larger on the unaffected compared with the affected hemisphere. Brain tissue hypoxia was more severe during obstructive compared with central apneas.
Profound cerebral deoxygenation effects of SDB occurred in acute/subacute stroke. These changes may contribute to poor outcome, arising in the possibility of a potential benefit of SDB treatment in stroke management.
Stroke 06/2012; 43(7):1951-3. · 5.73 Impact Factor
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ABSTRACT: To compare REM sleep chin EMG quantitative features between Parkinson's disease (PD) patients with or without REM sleep behavior disorder (RBD).
Twenty-seven consecutive PD patients (mean age 67.9 years) and 19 normal controls (mean age 67.5 years) were enrolled. Detailed clinical, laboratory, and polysomnographic studies were obtained in all participants and characteristics of chin electromyographic amplitude during rapid eye movements sleep were analyzed by means of an automatic quantitative approach (Atonia Index).
Sixteen of the 27 patients were affected by RBD. An Atonia Index below 0.90 showed high sensitivity (0.938) and specificity (0.909) for the diagnosis of RBD within the group of PD patients.
This study recommends the Atonia Index as an objective measure to support and aid the diagnosis of RBD in PD.
Sleep Medicine 03/2012; 13(6):707-13. · 3.40 Impact Factor
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Juliane Winkelmann,
Ling Lin,
Barbara Schormair,
Birgitte R Kornum,
Juliette Faraco,
Giuseppe Plazzi,
Atle Melberg,
Ferdinando Cornelio,
Alexander E Urban, Fabio Pizza,
Francesca Poli,
Fabian Grubert,
Thomas Wieland,
Elisabeth Graf,
Joachim Hallmayer,
Tim M Strom,
Emmanuel Mignot
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ABSTRACT: Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is characterized by late onset (30-40 years old) cerebellar ataxia, sensory neuronal deafness, narcolepsy-cataplexy and dementia. We performed exome sequencing in five individuals from three ADCA-DN kindreds and identified DNMT1 as the only gene with mutations found in all five affected individuals. Sanger sequencing confirmed the de novo mutation p.Ala570Val in one family, and showed co-segregation of p.Val606Phe and p.Ala570Val, with the ADCA-DN phenotype, in two other kindreds. An additional ADCA-DN kindred with a p.GLY605Ala mutation was subsequently identified. Narcolepsy and deafness were the first symptoms to appear in all pedigrees, followed by ataxia. DNMT1 is a widely expressed DNA methyltransferase maintaining methylation patterns in development, and mediating transcriptional repression by direct binding to HDAC2. It is also highly expressed in immune cells and required for the differentiation of CD4+ into T regulatory cells. Mutations in exon 20 of this gene were recently reported to cause hereditary sensory neuropathy with dementia and hearing loss (HSAN1). Our mutations are all located in exon 21 and in very close spatial proximity, suggesting distinct phenotypes depending on mutation location within this gene.
Human Molecular Genetics 02/2012; 21(10):2205-10. · 7.64 Impact Factor
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Sleep 01/2012; 35(10):1323. · 5.05 Impact Factor
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ABSTRACT: Narcolepsy with cataplexy is a sleep disorder characterized by excessive daytime sleepiness, irresistible sleep episodes, and sudden loss of muscle tone (cataplexy) mostly triggered by emotions. Narcolepsy with cataplexy is a disabling lifelong disorder frequently arising during childhood. Pediatric narcolepsy often results in severe learning and social impairment. Improving awareness about this condition increases early diagnosis and may allow patients to rapidly access adequate treatments, including pharmacotherapy and/or non-medication-based approaches. Even though children currently undergo pharmacotherapy, data about safety and efficacy in the pediatric population are scarce. Lacking international guidelines as well as drugs registered for childhood narcolepsy with cataplexy, physicians have no other alternative but to prescribe in an off-label manner medications identical to those recommended for adults. We retrospectively evaluated 27 children ranging from 6 to 16 years old, suffering from narcolepsy with cataplexy, who had been treated with off-label sodium oxybate and had been followed in a clinical setting. Throughout a semi-structured interview, we documented the good efficacy and tolerability of sodium oxybate in the majority of the patients. This study constitutes a preliminary step towards a further randomized controlled trial in childhood narcolepsy with cataplexy.
Sleep 01/2012; 35(5):709-11. · 5.05 Impact Factor
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Sara Marconi,
Cesa Scaglione, Fabio Pizza,
Giovanni Rizzo,
Giuseppe Plazzi,
Roberto Vetrugno,
Gaetano La Manna,
Claudio Campieri,
Sergio Stefoni,
Pasquale Montagna,
Paolo Martinelli
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ABSTRACT: Neurophysiological investigations disclosed spinal cord hyperexcitability in primary restless legs syndrome (p-RLS). Uremic RLS (u-RLS) is the most common secondary form, but its pathophysiological mechanisms remain unsettled. Aim of this study was to explore spinal cord excitability by evaluating group I nonreciprocal (Ib) inhibition in u-RLS patients in comparison with p-RLS patients and healthy subjects.
Eleven u-RLS patients undergoing long-term hemodialysis treatment, nine p-RLS patients and ten healthy subjects were studied. Soleus H reflex latency (HR-L), H(max)/M(max) ratio, and Ib inhibition were evaluated. Ib inhibition was tested measuring the amplitude changes in soleus H reflex following stimulation of the synergist gastrocnemius medialis (GM) nerve at rest. Nerve conduction studies were performed in the uremic patients.
The H(max)/M(max) ratio did not differ in the three groups. The u-RLS patients showed a normal Ib inhibition comparable with the healthy group, whereas the p-RLS group had evidence of a reduced active inhibition compared with both u-RLS patients (P = 0.04) and controls (P = 0.007), prominently at 5 ms (P = 0.007) and at 6 ms (P = 0.02) of conditioning-test interval. Neurophysiological examination disclosed abnormalities ranging from higher HR-L to clear-cut polyneuropathy in most u-RLS patients.
Unlike p-RLS patients, u-RLS patients had normal Ib inhibition, suggesting a regular supraspinal control of Ib spinal interneurons. Subclinical peripheral nerve abnormalities were detected in most uremic patients. Peripherally disrupted sensory modulation may represent the major pathophysiological determinant of uremic RLS.
Parkinsonism & Related Disorders 12/2011; 18(4):362-6. · 3.80 Impact Factor
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Sleep Medicine 12/2011; 12(10):1044-5. · 3.40 Impact Factor
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Christian Franceschini,
Raffaele Ferri, Fabio Pizza,
Lara Ricotta,
Stefano Vandi,
Stefania Detto,
Francesca Poli,
Carlo Pruneti,
Michela Mazzetti,
Carlo Cipolli,
Elio Lugaresi,
Giuseppe Plazzi
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ABSTRACT: We carried out a systematic video-polysomnographic analysis of the number and type of motor events during REM sleep in narcolepsy-cataplexy patients with REM sleep behavior disorder (NC + RBD) but not clinical RBD (NC-RBD).
Twelve NC + RBD and 10 NC-RBD male patients underwent video-polysomnography (video-PSG). Motor events of different type and complexity (i.e., elementary and complex movements and vocalizations) occurring during REM sleep were visually assessed, and indices of their frequency per hour of REM sleep were calculated. Subsequently, the index values were compared in NC + RBD versus NC-RBD patients.
Typical RBD behaviors observed in five NC + RBD patients were not included in any type of motor events. No objective conventional sleep parameter, including visual analysis of chin electromyographic (EMG) activity, significantly differed between the two groups of NC patients. NC + RBD patients showed higher occurrence of elementary movements (p = 0.034) during REM sleep compared with NC-RBD patients, but the occurrence of complex movements did not differ significantly.
Video-analysis of motor events during REM sleep may improve the diagnosis of RBD in NC. RBD in NC patients is mainly characterized by elementary rather than complex movements, consistent with the view that RBD with NC patients displays a distinct phenotype with respect to other RBD patients.
Sleep Medicine 12/2011; 12 Suppl 2:S59-63. · 3.40 Impact Factor
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Giuseppe Plazzi, Fabio Pizza,
Vincenzo Palaia,
Christian Franceschini,
Francesca Poli,
Keivan K Moghadam,
Pietro Cortelli,
Lino Nobili,
Oliviero Bruni,
Yves Dauvilliers,
Ling Lin,
Mark J Edwards,
Emmanuel Mignot,
Kailash P Bhatia
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ABSTRACT: Narcolepsy with cataplexy is characterized by daytime sleepiness, cataplexy (sudden loss of bilateral muscle tone triggered by emotions), sleep paralysis, hypnagogic hallucinations and disturbed nocturnal sleep. Narcolepsy with cataplexy is most often associated with human leucocyte antigen-DQB1*0602 and is caused by the loss of hypocretin-producing neurons in the hypothalamus of likely autoimmune aetiology. Noting that children with narcolepsy often display complex abnormal motor behaviours close to disease onset that do not meet the classical definition of cataplexy, we systematically analysed motor features in 39 children with narcolepsy with cataplexy in comparison with 25 age- and sex-matched healthy controls. We found that patients with narcolepsy with cataplexy displayed a complex array of 'negative' (hypotonia) and 'active' (ranging from perioral movements to dyskinetic-dystonic movements or stereotypies) motor disturbances. 'Active' and 'negative' motor scores correlated positively with the presence of hypotonic features at neurological examination and negatively with disease duration, whereas 'negative' motor scores also correlated negatively with age at disease onset. These observations suggest that paediatric narcolepsy with cataplexy often co-occurs with a complex movement disorder at disease onset, a phenomenon that may vanish later in the course of the disease. Further studies are warranted to assess clinical course and whether the associated movement disorder is also caused by hypocretin deficiency or by additional neurochemical abnormalities.
Brain 09/2011; 134(Pt 12):3480-92. · 9.46 Impact Factor
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ABSTRACT: We compared periodic and non-periodic leg movements during sleep and polysomnography in patients with narcolepsy with cataplexy (NC) with or without restless legs syndrome (RLS) with matched idiopathic RLS (iRLS) and control subjects. We enrolled 100 patients with NC: 17 having RLS were compared with 34 sex- and age-matched patients without RLS and with 17 normal controls and 17 iRLS subjects. Periodic leg movements were highest in iRLS and lowest in controls, with those in NC with RLS very close to iRLS, but higher than those in NC without RLS. The periodicity indexes showed the highest value in iRLS followed by NC with or without RLS and, finally, by controls. The inter-leg movement intervals peaked between 10 and 50 s in NC with RLS and in iRLS, the former did not display the nocturnal gradual decrease of periodic leg movements typical of iRLS. Periodic leg movements during sleep and polysomnography displayed specific features in RLS and NC, respectively, with NC with RLS showing an intermediate pattern. Even if RLS is only detected by targeted interview in NC, its frequency and impact on night-time sleep architecture and continuity suggest that this condition should be routinely searched for in NC.
Journal of Sleep Research 08/2011; 21(2):155-62. · 3.16 Impact Factor
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Thorax 08/2011; 66(8):725-6. · 6.84 Impact Factor
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Giuseppe Plazzi,
Keivan Kaveh Moghadam,
Leonardo Serra Maggi,
Vincenzo Donadio,
Roberto Vetrugno,
Rocco Liguori,
Giovanna Zoccoli,
Francesca Poli, Fabio Pizza,
Uberto Pagotto,
Raffaele Ferri
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ABSTRACT: Narcolepsy is a clinical condition characterized mainly by excessive sleepiness and cataplexy. Hypnagogic hallucinations and sleep paralysis complete the narcoleptic tetrad; disrupted night sleep, automatic behaviors and weight gain are also usual complaints. Different studies focus on autonomic changes or dysfunctions among narcoleptic patients, such as pupillary abnormalities, fainting spells, erectile dysfunction, night sweats, gastric problems, low body temperature, systemic hypotension, dry mouth, heart palpitations, headache and extremities dysthermia. Even if many studies lack sufficient standardization or their results have not been replicated, a non-secondary involvement of the autonomic nervous system in narcolepsy is strongly suggested, mainly by metabolic and cardiovascular findings. Furthermore, the recent discovery of a high risk for overweight and for metabolic syndrome in narcoleptic patients represents an important warning for clinicians in order to monitor and follow them up for their autonomic functions. We review here studies on autonomic functions and clinical disturbances in narcoleptic patients, trying to shed light on the possible contribute of alterations of the hypocretin system in autonomic pathophysiology.
Sleep Medicine Reviews 06/2011; 15(3):187-96. · 6.93 Impact Factor
