Verrotti A.,University of Perugia |
Filippini M.,CNR Institute of Neurological Sciences |
Matricardi S.,University of Chieti Pescara |
Agostinelli M.F.,University of Chieti Pescara |
Gobbi G.,CNR Institute of Neurological Sciences
Brain and Cognition | Year: 2014
Benign Epilepsy with centrotemporal spikes (BECTS) is considered a benign type of epilepsy; nevertheless a significant number of children present clear and heterogeneous cognitive deficits such as memory disturbances. Thus far, evidence about memory impairment has been less than conclusive. To clarify the quality of memory functioning in BECTS children, an analysis of existing findings has been conducted trying to identify the type of memory deficits and their underlying factors. Short- and long-term declarative memory are impaired in BECTS children, with both verbal and non-verbal material; co-occurrence of attentional, linguistic and behavioral disturbances is reported. In children with continuous spikes and waves during the slow-wave sleep pattern the normal downscaling of slow-wave activity is absent, disrupting plastic brain processes of sleep-related memory consolidation. In BECTS children, NREM sleep interictal epileptiform discharges (IED) may interfere in the dialogue between temporal and frontal cortex, causing declarative memory deficits: the role of NREM sleep IED acquires a special importance, leading to methodological guidance and suggesting aims for future researches in the field of childhood neuroscience. © 2013 Elsevier Inc.
Partinen M.,Vitalmed Research Center |
Partinen M.,University of Helsinki |
Kornum B.R.,Glostrup Hospital |
Plazzi G.,University of Bologna |
And 5 more authors.
The Lancet Neurology | Year: 2014
Narcolepsy is a sleep disorder characterised by loss of hypothalamic hypocretin (orexin) neurons. The prevalence of narcolepsy is about 30 per 100 000 people, and typical age at onset is 12-16 years. Narcolepsy is strongly associated with the HLA-DQB1*06:02 genotype, and has been thought of as an immune-mediated disease. Other risk genes, such as T-cell-receptor α chain and purinergic receptor subtype 2Y11, are also implicated. Interest in narcolepsy has increased since the epidemiological observations that H1N1 infection and vaccination are potential triggering factors, and an increase in the incidence of narcolepsy after the pandemic AS03 adjuvanted H1N1 vaccination in 2010 from Sweden and Finland supports the immune-mediated pathogenesis. Epidemiological observations from studies in China also suggest a role for H1N1 virus infections as a trigger for narcolepsy. Although the pathological mechanisms are unknown, an H1N1 virus-derived antigen might be the trigger. © 2014 Elsevier Ltd.
Mazzatenta D.,CNR Institute of Neurological Sciences |
Zoli M.,CNR Institute of Neurological Sciences |
Mascari C.,CNR Institute of Neurological Sciences |
Pasquini E.,Azienda USL |
Frank G.,CNR Institute of Neurological Sciences
Spine | Year: 2014
STUDY DESIGN.: This study evaluates a series of consecutive endoscopic endonasal odontoidectomies performed since 2008 in our center. OBJECTIVE.: The aim of the study was to analyze the outcome and the surgical technique to enlighten advantages and limitations of this procedure. SUMMARY OF BACKGROUND DATA.: Odontoidectomy represents the treatment of choice in selected cases of basilar invagination. Transoral-transpharyngeal odontoidectomy is the "gold standard" and more experienced technique. Recently, the endoscopic endonasal approach has been proposed as an alternative route. METHODS.: All patients underwent a pre- and postoperative evaluation of neurological status using physical neurological examination, assessment of American Spinal Injury Association impairment scale score, and neurophysiological investigations. Pre- and postoperative neuroradiological examinations consisted of magnetic resonance imaging, computed tomography, and radiography in flexion and extension. Surgical complications, time of orotracheal extubation and of resumption of oral feeding after surgery were considered, basing on medical records. RESULTS.: The series is composed of 5 cases. All cases presented a progressive tetraparesis despite a posterior occipitocervical arthrodesis. Two patients presented with irreducible atlantoaxial subluxation in Down syndrome, whereas the others presented with an atlanto-occipital malformation with platybasia and basilar invagination. No complications were observed. In all except one case, orotracheal intubation was removed immediately at the end of surgery. Oral feeding was resumed 1 day after surgery in all but one case that initially required an orogastric tube. At follow-up (mean: 34.2 mo; range: 3-57 mo), neurological symptoms have been shown to improve in 2 cases and stabilization, arresting the neurological worsening, in 3 cases. CONCLUSION.: Endoscopic endonasal odontoidectomy resulted in a safe, effective, and well-tolerated procedure. From our experience, we conclude that the different approaches for odontoidectomy should be considered to be complementary rather than alternative: the endonasal endoscopic can be advantageous in selected cases presenting some anatomical conditions related (micrognathia and macroglossia) to the oral cavity and to high position of the odontoid.Level of Evidence: 4 © 2014 Lippincott Williams & Wilkins.
D'Antoni S.,CNR Institute of Neurological Sciences |
Spatuzza M.,CNR Institute of Neurological Sciences |
Bonaccorso C.M.,IRCCS Oasi Maria SS |
Musumeci S.A.,IRCCS Oasi Maria SS |
And 5 more authors.
Neuroscience and Biobehavioral Reviews | Year: 2014
Activation of group-I metabotropic glutamate receptors, mGlu1 and mGlu5, triggers a variety of signalling pathways in neurons and glial cells, which are differently implicated in synaptic plasticity. The earliest and much of key studies discovered abnormal mGlu5 receptor function in Fragile X syndrome (FXS) mouse models which then motivated more recent work that finds mGlu5 receptor dysfunction in related disorders such as intellectual disability (ID), obsessive-compulsive disorder (OCD) and autism. Therefore, mGlu1/5 receptor dysfunction may represent a common aetiology of these complex diseases. Furthermore, many studies have focused on dysregulation of mGlu5 signalling to synaptic protein synthesis. However, emerging evidence finds abnormal mGlu5 receptor interactions with its scaffolding proteins in FXS which results in mGlu5 receptor dysfunction and phenotypes independent of signalling to protein synthesis. Finally, both an increased and reduced mGlu5 functioning seem to be associated with ID and autism spectrum disorders, with important consequences for potential treatment of these developmental disorders. © 2014 Elsevier Ltd.
Tomson T.,Karolinska Institutet |
Battino D.,CNR Institute of Neurological Sciences
Handbook of Experimental Pharmacology | Year: 2011
It is well established that children exposed to antiepileptic drugs (AEDs) in utero have an increased risk of adverse pregnancy outcomes including foetal growth retardation, major congenital malformations and impaired postnatal cognitive development. However, due to the significant maternal and foetal risks associated with uncontrolled epileptic seizures, AED treatment is generally maintained during pregnancy in the majority of women with active epilepsy. The prevalence of major malformations in children exposed to AEDs has ranged from 4 to 10%, 2-4 times higher than in the general population. More recent studies suggest a smaller increase in malformation rates. Malformation rates have consistently been higher in association with exposure to valproate than with carbamazepine and lamotrigine. Some prospective cohort studies also indicate reduced cognitive outcome in children exposed to valproate compared to carbamazepine and possibly lamotrigine. Information on pregnancy outcomes with newer generation AEDs other than lamotrigine are still insufficient. © 2011 Springer-Verlag Berlin Heidelberg.
DiMauro S.,York College |
Schon E.A.,York College |
Carelli V.,CNR Institute of Neurological Sciences |
Hirano M.,York College
Nature Reviews Neurology | Year: 2013
Mitochondrial diseases involve the respiratory chain, which is under the dual control of nuclear and mitochondrial DNA (mtDNA). The complexity of mitochondrial genetics provides one explanation for the clinical heterogeneity of mitochondrial diseases, but our understanding of disease pathogenesis remains limited. Classification of Mendelian mitochondrial encephalomyopathies has been laborious, but whole-exome sequencing studies have revealed unexpected molecular aetiologies for both typical and atypical mitochondrial disease phenotypes. Mendelian mitochondrial defects can affect five components of mitochondrial biology: subunits of respiratory chain complexes (direct hits); mitochondrial assembly proteins; mtDNA translation; phospholipid composition of the inner mitochondrial membrane; or mitochondrial dynamics. A sixth category - defects of mtDNA maintenance - combines features of Mendelian and mitochondrial genetics. Genetic defects in mitochondrial dynamics are especially important in neurology as they cause optic atrophy, hereditary spastic paraplegia, and Charcot-Marie-Tooth disease. Therapy is inadequate and mostly palliative, but promising new avenues are being identified. Here, we review current knowledge on the genetics and pathogenesis of the six categories of mitochondrial disorders outlined above, focusing on their salient clinical manifestations and highlighting novel clinical entities. An outline of diagnostic clues for the various forms of mitochondrial disease, as well as potential therapeutic strategies, is also discussed. © 2013 Macmillan Publishers Limited. All rights reserved.
Roberto G.,University of Bologna |
Piccinni C.,University of Bologna |
D'Alessandro R.,CNR Institute of Neurological Sciences |
Poluzzi E.,University of Bologna
Cephalalgia | Year: 2014
Aim: The aim of this article is to investigate the vascular safety profile of triptans through an analysis of the United States Food and Drug Administration Adverse Event Reporting System (FDA-AERS) database with a special focus on serious and unexpected adverse events. Methods: A case/non-case analysis was performed on the reports entered in the FDA-AERS from 2004 to 2010: Cases were reports with at least one event included in the MedDRA system organ classes 'Cardiac disorder' or 'Vascular disorders', whereas non-cases were all the remaining reports. Co-reported cardiovascular drugs were used as a proxy of cardiovascular risk and the adjusted reporting odds ratio (adj.ROR) with 95% confidence intervals (95% CI) was calculated. Disproportionality signals were defined as adj.ROR value >1. Adverse events were considered unexpected if not mentioned on the relevant label. Results: Among 2,131,688 reports, 7808 concerned triptans. Cases were 2593 among triptans and 665,940 for all other drugs. Unexpected disproportionality signals were found in the following high-level terms of the MedDRA hierarchy: 'Cerebrovascular and spinal necrosis and vascular insufficiency' (103 triptan cases), 'Aneurysms and dissections non-site specific' (15), 'Pregnancy-associated hypertension' (10), 'Reproductive system necrosis and vascular insufficiency' (3). Discussion: Our analysis revealed three main groups of unexpected associations between triptans and serious vascular events: ischaemic cerebrovascular events, aneurysms and artery dissections, and pregnancy-related vascular events. A case-by-case assessment is needed to confirm or disprove their plausibility and large-scale analytical studies should be planned for risk rate estimation. In the meantime, clinicians should pay special attention to migraine diagnosis and vascular risk assessment before prescribing a triptan, also promptly reporting any unexpected event to pharmacovigilance systems. © International Headache Society 2013.
Donadio V.,CNR Institute of Neurological Sciences |
Liguori R.,CNR Institute of Neurological Sciences |
Liguori R.,University of Bologna
Clinical Neurophysiology | Year: 2015
Microneurography is a unique neurophysiological technique allowing direct recording of unmyelinated postganglionic sympathetic or afferent nociceptive fibers by tungsten needles inserted into a peripheral nerve fascicle. In recent years, microneurography has been used to ascertain autonomic impairments in central neurological disorders such as sleep disorders, Parkinson's disease, amyotrophic lateral sclerosis, or vasovagal syncope. Abnormal resting muscle sympathetic nerve activity (MSNA) and skin sympathetic nerve activity (SSNA) or the abnormal sympathetic response to arousal have been described in these disorders, thereby clarifying important pathophysiological aspects of the underlying impairment. In addition, microneurography was also recently used to demonstrate absent or decreased sympathetic outflow in diseases affecting the peripheral nervous system such as Ross syndrome, pure autonomic failure, and small-fiber neuropathy.Microneurography has also been used to study nociceptor outflow in pain disorders affecting the peripheral nervous system such as small-fiber neuropathy, diabetic neuropathy, erythromelalgia, complex regional pain syndrome, and fibromyalgia. In these disorders, microneurography mainly documented mechano-insensitive C-nociceptor hyperexcitability that might account for the ongoing pain. © 2014 International Federation of Clinical Neurophysiology.
Citraro R.,University of Catanzaro |
Leo A.,University of Catanzaro |
Marra R.,CNR Institute of Neurological Sciences |
De Sarro G.,University of Catanzaro |
Russo E.,University of Catanzaro
Brain Research Bulletin | Year: 2015
Different data suggest the involvement of specific inflammatory pathways in the pathogenesis of epilepsy. Cyclooxygenase (COX), which catalyses the production of pro-inflammatory prostaglandins, may play a significant role in seizure-induced neuroinflammation and neuronal hyperexcitability. COX-2 is constitutively expressed in the brain and also increased during/after seizures. COX-2 inhibitors may thus attenuate inflammation associated with brain disorders. We studied whether early long-term treatment (17 consecutive weeks starting from 45 days postnatal age) with the non-steroidal anti-inflammatory drug etoricoxib (10. mg/kg/day per os), a selective COX-2 inhibitor, was able to prevent/reduce the development of absence seizures in WAG/Rij rats, a recognized animal model of absence epilepsy and epileptogenesis. Drug effects on the incidence, duration and properties of absence seizure spike-wave discharges (SWDs) were measured both 1 and 5 months after treatment withdrawal; furthermore, the acute effects of etoricoxib on SWDs in 6-month-old WAG/Rij rats were measured. Early long-term treatment (ELTT) with etoricoxib led to an ~40% long-lasting (5 months) reduction in the development of spontaneous absence seizures in adult WAG/Rij rats thus exhibiting antiepileptogenic effects. Acutely administered etoricoxib (10 and 20. mg/kg i.p.) also had anti-absence properties, significantly reducing the number and duration of SWDs by ~50%. These results confirm the antiepileptogenic effects of COX-2 inhibitors and suggest the possible role of COX-2, prostaglandin synthesis and consequent neuroinflammation in the epileptogenic process underlying the development of absence seizures in WAG/Rij rats. © 2015 Elsevier Inc.
Alessandria M.,University of Bologna |
Provini F.,University of Bologna |
Provini F.,CNR Institute of Neurological Sciences
Frontiers in Neurology | Year: 2013
In recent years, a growing body of evidence suggests that periodic limb movements during sleep (PLMS) are associated with hypertension, cardiovascular, and cerebrovascular risk. However, several non-mutually exclusive mechanisms may determine a higher cardiovascular risk in patients with PLMS and the link between the two remains controversial. Prospective data are scant and the temporal relationship between PLMS and acute vascular events is difficult to ascertain because although PLMS may lead to acute vascular events such as stroke, stroke may also give rise to PLMS. This article describes the clinical and polygraphic features of PLMS and examines the literature evidence linking PLMS with an increased risk for the development and progression of cardiovascular diseases, discussing the possible pathways of this association. © 2013 Alessandria and Provini.