@article{pmid21706151,

title = {A randomized controlled clinical trial of growth hormone in amyotrophic lateral sclerosis: clinical, neuroimaging, and hormonal results},

author = {Francesco Saccà and Mario Quarantelli and Carlo Rinaldi and Tecla Tucci and Raffaele Piro and Gaetano Perrotta and Barbara Carotenuto and Angela Marsili and Vincenzo Palma and Giuseppe De Michele and Arturo Brunetti and Vincenzo Brescia Morra and Alessandro Filla and Marco Salvatore},

doi = {10.1007/s00415-011-6146-2},

issn = {1432-1459},

year  = {2012},

date = {2012-01-01},

journal = {J Neurol},

volume = {259},

number = {1},

pages = {132--138},

abstract = {Amyotrophic lateral sclerosis (ALS) is a fatal neurological disease with motor neuron degeneration. Riluzole is the only available treatment. Two-thirds of ALS patients present with growth hormone (GH) deficiency. The aim of this study is to determine if add-on of GH to riluzole, with an individually regulated dose based on Insulin-like growth factor 1 (IGF-I) production, was able to reduce neuronal loss in the motor cortex, reduce mortality, and improve motor function of ALS patients. Patients with definite/probable ALS, in treatment with riluzole, aged 40-85 years, and with disease duration ≤3 years were enrolled. The study was randomized, placebo controlled, and double blind. Before treatment, patients were tested with a GH releasing hormone (GHRH) + arginine test. The initial dose of GH was 2 IU s.c. every other day, and was progressively increased to a maximum of 8 IU. Primary endpoint was N-acetylaspartate/(creatine + choline) (NAA/Cre + Cho) ratio in motor cortex assessed by magnetic resonance spectroscopy performed at months 0, 6, and 12. Secondary endpoints were mortality and ALS functional rating scale revised (ALSFRS-R). The NAA/(Cre + Cho) ratio decreased in all patients who completed the trial. No significant difference was noted between treated and placebo group. At baseline, although IGF-I levels were within the normal range, 73% of patients had GH deficiency, being severe in half of them. Compared with bulbar onset, spinal-onset patients showed more depressed GH response to the GHRH + arginine stimulation test (10.4 ± 7.0 versus 15.5 ± 8.1 ng/mL; p < 0.05). Insulin resistance [homeostasis model assessment of insulin resistance (HOMA-IR)] increased from 2.1 ± 1.0 at baseline to 4.6 ± 1.9 at 12 months (p < 0.001). Insulin-like growth factor (IGF) binding protein 3 (IGFBP-3) decreased from 8,435 ± 4,477 ng/mL at baseline to 3,250 ± 1,780 ng/mL at 12 months (p < 0.001). The results show that GH exerted no effect on cerebral NAA or clinical progression assessed by ALSFRS-R. Two-thirds of ALS patients had GH deficit, with higher levels in the bulbar-onset group. During follow-up, patients showed progressive increase in HOMA-IR and decrease in IGFBP-3 levels.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid23097646,

title = {Antiphospholipid-related chorea},

author = {Silvio Peluso and Antonella Antenora and Anna De Rosa and Alessandro Roca and Gennaro Maddaluno and Vincenzo Brescia Morra and Giuseppe De Michele},

doi = {10.3389/fneur.2012.00150},

issn = {1664-2295},

year  = {2012},

date = {2012-01-01},

journal = {Front Neurol},

volume = {3},

pages = {150},

abstract = {Chorea is a movement disorder which may be associated with immunologic diseases, in particular in the presence of antiphospholipid antibodies (aPL). Choreic movements have been linked to the isolated presence of plasmatic aPL, or to primary, or secondary antiphospholipid syndrome. The highest incidence of aPL-related chorea is detected in children and females. The presentation of chorea is usually subacute and the course monophasic. Choreic movements can be focal, unilateral, or generalized. High plasmatic titers of aPL in a choreic patient can suggest the diagnosis of aPL-related chorea; neuroimaging investigation does not provide much additional diagnostic information. The most relevant target of aPL is β2-glycoprotein I, probably responsible for the thrombotic manifestations of antiphospholipid syndrome. Etiology of the movement disorder is not well understood but a neurotoxic effect of aPL has been hypothesized, leading to impaired basal ganglia cell function and development of neuroinflammation. Patients affected by aPL-related chorea have an increased risk of thrombosis and should receive antiplatelet or anticoagulant treatment.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid21585623,

title = {Insulin-like growth factor (IGF)-I and IGF-binding protein-3 serum levels in relapsing-remitting and secondary progressive multiple sclerosis patients},

author = {R Lanzillo and C Di Somma and M Quarantelli and G Ventrella and M Gasperi and A Prinster and G Vacca and C Pivonello and G Orefice and A Colao and V B Morra},

doi = {10.1111/j.1468-1331.2011.03433.x},

issn = {1468-1331},

year  = {2011},

date = {2011-12-01},

journal = {Eur J Neurol},

volume = {18},

number = {12},

pages = {1402--1406},

abstract = {BACKGROUND: Insulin-like growth factor (IGF)-I has a role in remyelination, and insulin-like growth factor-binding protein-3 (IGFBP-3) might reduce its bioavailability. A role of IGFBP-3 in multiple sclerosis (MS) progression was hypothesized in patients with primary progressive (PP) MS.nnOBJECTIVE: To evaluate serum levels of IGF-I and IGFBP-3 in patients with relapsing-remitting (RR) and secondary progressive (SP) MS and their correlations with disease activity and progression.nnMETHODS: Sixty-three (41 RR and 22 SP) 'naive' MS patients and 60 age-matched healthy controls were enrolled. Patients were assessed through clinical [Expanded Disability Status Scale (EDSS), Multiple Sclerosis Severity Scale (MSSS), number of relapses] and laboratory investigations. IGF-I and IGFBP-3 were measured by ELISA.nnRESULTS: Levels of IGF-I and IGFBP-3 were similar in the two MS groups. IGFBP-3 levels were higher in patients with MS than in controls (P < 0.001), with a reduction in IGF-I/BP3 ratio (P < 0.001). Patients showing IGFBP-3 levels higher than 2SD of the normal population had a higher EDSS (mean EDSS 3.7 vs. 2.8, P = 0.021). MSSS was not related to IGF-I or IGFBP-3 serum levels.nnCONCLUSIONS: Our patients showed high IGFBP-3 serum levels respect to controls and higher serum levels were associated with a higher EDSS, despite of comparable disease duration. Therefore, MS and higher disability seem to be associated with a reduction in bioavailability of IGF-I. MSSS score was not related to IGFBP-3 levels, suggesting that IGFBP-3 might not have the pathogenetic role previously suggested for PP MS, in the mechanism of progression in the SP form of disease.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid21920823,

title = {Ictal yawning in a patient with drug-resistant focal epilepsy: video/EEG documentation and review of literature reports},

author = {Nicola Specchio and Antonio Carotenuto and Marina Trivisano and Simona Cappelletti and Federico Vigevano and Lucia Fusco},

doi = {10.1016/j.yebeh.2011.08.013},

issn = {1525-5069},

year  = {2011},

date = {2011-11-01},

journal = {Epilepsy Behav},

volume = {22},

number = {3},

pages = {602--605},

abstract = {Yawning is an involuntary sequence of mouth opening, deep inspiration, brief apnea, and slow expiration. Few cases of yawning as a clinical sign of epileptic seizures, ictally or postictally, have been reported. We report the video/EEG documentation of yawning as an ictal sign in a 31-year-old patient affected by drug-resistant focal epilepsy symptomatic of bilateral perisylvian polymicrogyria. Since the age of 10 she has had seizures characterized by yawning, staring, and eye blinking. Bilateral rhythmic frontotemporal spikes and waves characterized her EEG. We reviewed all reported cases and compared clinical and EEG features. We believe that yawning as part of an epileptic seizure might be considered a rare automatic behavior, like other automatisms frequently reported in epileptic seizures. Automatisms are more frequently described in patients with temporal lobe epilepsy, and involvement of the temporal lobe in most of the published cases may have led to this explanation. It is possible that yawning within epileptic seizures could be considered activation of distinct symptomatogenic cortex rather than a release phenomenon. This rare ictal manifestation should be recognized as epileptic to avoid misdiagnosis and treatment failure.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid22029656,

title = {Chronic cerebrospinal venous insufficiency in multiple sclerosis: clinical correlates from a multicentre study},

author = {Stefano Bastianello and Alfredo Romani and Gisela Viselner and Enrico Colli Tibaldi and Elisabetta Giugni and Marta Altieri and Pietro Cecconi and Laura Mendozzi and Massimiliano Farina and Donatella Mariani and Antonio Galassi and Claudio Quattrini and Marcello Mancini and Vincenzo Bresciamorra and Angela Lagace and Sandy McDonald and Giorgio Bono and Roberto Bergamaschi},

doi = {10.1186/1471-2377-11-132},

issn = {1471-2377},

year  = {2011},

date = {2011-10-01},

journal = {BMC Neurol},

volume = {11},

pages = {132},

abstract = {BACKGROUND: Chronic cerebrospinal venous insufficiency (CCSVI) has recently been reported to be associated with multiple sclerosis (MS). However, its actual prevalence, possible association with specific MS phenotypes, and potential pathophysiological role are debated.nnMETHOD: We analysed the clinical data of 710 MS patients attending six centres (five Italian and one Canadian). All were submitted to venous Doppler sonography and diagnosed as having or not having CCSVI according to the criteria of Zamboni et al.nnRESULTS: Overall, CCSVI was diagnosed in 86% of the patients, but the frequency varied greatly between the centres. Even greater differences were found when considering singly the five diagnostic criteria proposed by Zamboni et al. Despite these differences, significant associations with clinical data were found, the most striking being age at disease onset (about five years greater in CCSVI-positive patients) and clinical severity (mean EDSS score about one point higher in CCSVI-positive patients). Patients with progressive MS were more likely to have CCSVI than those with relapsing-remitting MS.nnCONCLUSION: The methods for diagnosing CCSVI need to be refined, as the between-centre differences, particularly in single criteria, were excessively high. Despite these discrepancies, the strong associations between CCSVI and MS phenotype suggest that the presence of CCSVI may favour a later development of MS in patients with a lower susceptibility to autoimmune diseases and may increase its severity.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid21606004,

title = {Prolonged episode of dystonia and dyskinesia resembling status epilepticus following acute intrathecal baclofen withdrawal},

author = {Nicola Specchio and Antonio Carotenuto and Marina Trivisano and Simona Cappelletti and Federico Vigevano and Lucia Fusco},

doi = {10.1016/j.yebeh.2011.04.052},

issn = {1525-5069},

year  = {2011},

date = {2011-07-01},

journal = {Epilepsy Behav},

volume = {21},

number = {3},

pages = {321--323},

abstract = {Spasticity is a state of sustained pathological increase in the tension of a muscle. Treatment for spasticity has been revolutionized by the introduction of intrathecal baclofen (ITB) continuous infusion. ITB is associated with a 30% rate of complications mostly as a result of catheter problems that lead to acute ITB withdrawal. We describe a 10-year-old girl with spastic quadriplegia caused by cerebral palsy successfully treated with ITB who developed dystonic-dyskinetic status following acute ITB withdrawal because of a catheter kink resolved by external manipulation. The patient presented with a subacute onset of generalized malaise characterized by anorexia, difficulty in speaking and swallowing, insomnia, worsening of hypertonus with a left predominance, and late appearance of dystonic-dyskinetic movements. Soon after hospitalization the child had a generalized tonic-clonic seizure followed by unresponsiveness. One hour later she developed multiple muscle contractions with dystonic posturing and continuous chaotic movements. She also had pyrexia, tachycardia, and hypertension. A video/EEG recording showed the nonepileptic nature of the symptoms and revealed dystonic-dyskinetic status. We report the clinical features and the video recording of the status. The prompt recognition of this life-threatening complication is essential, as rapid treatment may reduce the increased risk of death. Misdiagnosis is possible, and video/EEG monitoring is useful to this end. Although differing among patients, all symptoms are related to overexcitability of the extrapyramidal and autonomic systems.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid21308385,

title = {Predictive factors of neutralizing antibodies development in relapsing-remitting multiple sclerosis patients on interferon Beta-1b therapy},

author = {R Lanzillo and G Orefice and A Prinster and G Ventrella and R Liuzzi and V Scarano and C Florio and G Vacca and A Brunetti and B Alfano and V Brescia Morra and V Bonavita},

doi = {10.1007/s10072-011-0483-x},

issn = {1590-3478},

year  = {2011},

date = {2011-04-01},

journal = {Neurol Sci},

volume = {32},

number = {2},

pages = {287--292},

abstract = {The identification of predictive factors of NAbs development might have a relevant impact on clinical practice. Our objective is to look after predictive factors of NAbs development in MS IFN Beta-1b-treated patients. Database was screened for patients on IFN Beta-1b treatment with an Expanded Disability Status Scale (EDSS) at a baseline between 1 and 3.5, disease duration shorter than 15 years, and NAbs analysis performed every 6 months. The NAbs positive status was analysed in relation to baseline clinical, neuropsychological and brain imaging measures. Forty-nine patients were included. Sixteen patients had become NAbs positive at some point on IFN therapy (35%). NAbs producers differed from not producers for higher incidence of cognitive deficit and higher lesion load (OR = 5.0 and 5.6, respectively). Our study suggests that NAbs development might be a marker of a more aggressive disease and that worse outcome in NAbs producers might be biased by baseline condition.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid21595005,

title = {Ring 21 chromosome presenting with epilepsy and intellectual disability: clinical report and review of the literature},

author = {Nicola Specchio and Antonio Carotenuto and Marina Trivisano and Simona Cappelletti and Cristina Digilio and Rossella Capolino and Matteo Di Capua and Lucia Fusco and Federico Vigevano},

doi = {10.1002/ajmg.a.33899},

issn = {1552-4833},

year  = {2011},

date = {2011-04-01},

journal = {Am J Med Genet A},

volume = {155A},

number = {4},

pages = {911--914},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid21412413,

title = {A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design},

author = {Francesco Saccà and Giorgia Puorro and Antonella Antenora and Angela Marsili and Alessandra Denaro and Raffaele Piro and Pierpaolo Sorrentino and Chiara Pane and Alessandra Tessa and Vincenzo Brescia Morra and Sergio Cocozza and Giuseppe De Michele and Filippo M Santorelli and Alessandro Filla},

doi = {10.1371/journal.pone.0017627},

issn = {1932-6203},

year  = {2011},

date = {2011-03-01},

journal = {PLoS One},

volume = {6},

number = {3},

pages = {e17627},

abstract = {BACKGROUND: Friedreich's ataxia (FRDA) is the most common hereditary ataxia among caucasians. The molecular defect in FRDA is the trinucleotide GAA expansion in the first intron of the FXN gene, which encodes frataxin. No studies have yet reported frataxin protein and mRNA levels in a large cohort of FRDA patients, carriers and controls.nnMETHODOLOGY/PRINCIPAL FINDINGS: We enrolled 24 patients with classic FRDA phenotype (cFA), 6 late onset FRDA (LOFA), all homozygous for GAA expansion, 5 pFA cases who harbored the GAA expansion in compound heterozygosis with FXN point mutations (namely, p.I154F, c.482+3delA, p.R165P), 33 healthy expansion carriers, and 29 healthy controls. DNA was genotyped for GAA expansion, mRNA/FXN was quantified in real-time, and frataxin protein was measured using lateral-flow immunoassay in peripheral blood mononuclear cells (PBMCs). Mean residual levels of frataxin, compared to controls, were 35.8%, 65.6%, 33%, and 68.7% in cFA, LOFA, pFA and healthy carriers, respectively. Comparison of both cFA and pFA with controls resulted in 100% sensitivity and specificity, but there was overlap between LOFA, carriers and controls. Frataxin levels correlated inversely with GAA1 and GAA2 expansions, and directly with age at onset. Messenger RNA expression was reduced to 19.4% in cFA, 50.4% in LOFA, 52.7% in pFA, 53.0% in carriers, as compared to controls (p<0.0001). mRNA levels proved to be diagnostic when comparing cFA with controls resulting in 100% sensitivity and specificity. In cFA and LOFA patients mRNA levels correlated directly with protein levels and age at onset, and inversely with GAA1 and GAA2.nnCONCLUSION/SIGNIFICANCE: We report the first explorative study on combined frataxin and mRNA levels in PBMCs from a cohort of FRDA patients, carriers and healthy individuals. Lateral-flow immunoassay differentiated cFA and pFA patients from controls, whereas determination of mRNA in q-PCR was sensitive and specific only in cFA.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid20461805,

title = {Restless legs syndrome is a common feature of adult celiac disease},

author = {Marcello Moccia and Maria Teresa Pellecchia and Roberto Erro and Fabiana Zingone and Sara Marelli and Damiano Giuseppe Barone and Carolina Ciacci and Luigi Ferini Strambi and Paolo Barone},

doi = {10.1002/mds.22903},

issn = {1531-8257},

year  = {2010},

date = {2010-05-01},

journal = {Mov Disord},

volume = {25},

number = {7},

pages = {877--881},

abstract = {Restless legs syndrome (RLS) is a common neurological condition, frequently idiopathic, sometimes associated with specific disorders such as iron deficiency. We investigated RLS prevalence in celiac disease (CD), an autoimmune disease characterized by several features such as malabsorption-related iron deficiency anemia and peripheral neuropathy. We screened a population of 100 adult CD patients for CD features, iron metabolism, clinical and neurological conditions, and enrolled 100 age- and sex-matched controls in the general population. RLS was ascertained in CD patients and controls by both the presence of the four essential International RLS Study Group diagnostic criteria and neurological examination. The International RLS Study Group rating scale was used to measure RLS severity. We found a 31% prevalence of RLS in the CD population that was significantly higher than the prevalence in the control population (4%; P < 0.001). The average severity of RLS in CD population was moderate (17 +/- 6.5). In the CD population, no significant correlation was found between RLS and either gluten-free diet or iron metabolism, despite hemoglobin levels were significantly lower in CD patients with RLS than without RLS (P = 0.003). We found no correlation between RLS and other possible causes of secondary RLS, including signs of peripheral neuropathy, pregnancy, end-stage renal disease, and pharmacological treatments.Our study broadens the spectrum of neurological disorders associated with CD and indicates that RLS should be sought for in all patients with CD.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid20150398,

title = {Atorvastatin combined to interferon to verify the efficacy (ACTIVE) in relapsing-remitting active multiple sclerosis patients: a longitudinal controlled trial of combination therapy},

author = {Roberta Lanzillo and Giuseppe Orefice and Mario Quarantelli and Carlo Rinaldi and Anna Prinster and Gianluca Ventrella and Daniele Spitaleri and Giacomo Lus and Giovanni Vacca and Barbara Carotenuto and Elena Salvatore and Arturo Brunetti and Gioacchino Tedeschi and Vincenzo Brescia Morra},

doi = {10.1177/1352458509358909},

issn = {1477-0970},

year  = {2010},

date = {2010-04-01},

journal = {Mult Scler},

volume = {16},

number = {4},

pages = {450--454},

abstract = {A large body of evidence suggests that, besides their cholesterol-lowering effect, statins exert anti-inflammatory action. Consequently, statins may have therapeutic potential in immune-mediated disorders such as multiple sclerosis. Our objectives were to determine safety, tolerability and efficacy of low-dose atorvastatin plus high-dose interferon beta-1a in multiple sclerosis patients responding poorly to interferon beta-1a alone. Relapsing-remitting multiple sclerosis patients, aged 18-50 years, with contrast-enhanced lesions or relapses while on therapy with interferon beta-1a 44 microg (three times weekly) for 12 months, were randomized to combination therapy (interferon + atorvastatin 20 mg per day; group A) or interferon alone (group B) for 24 months. Patients underwent blood analysis and clinical assessment with the Expanded Disability Status Scale every 3 months, and brain gadolinium-enhanced magnetic resonance imaging at screening, and 12 and 24 months thereafter. Primary outcome measure was contrast-enhanced lesion number. Secondary outcome measures were number of relapses, EDSS variation and safety laboratory data. Forty-five patients were randomized to group A (n = 21) or B (n = 24). At 24 months, group A had significantly fewer contrast-enhanced lesions versus baseline (p = 0.007) and significantly fewer relapses versus the two pre-randomization years (p < 0.001). At survival analysis, the risk for a 1-point EDSS increase was slightly higher in group B than in group A (p = 0.053). Low-dose atorvastatin may be beneficial, as add-on therapy, in poor responders to high-dose interferon beta-1a alone.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid20028706,

title = {A voxel-based morphometry study of disease severity correlates in relapsing-- remitting multiple sclerosis},

author = {A Prinster and M Quarantelli and R Lanzillo and G Orefice and G Vacca and B Carotenuto and B Alfano and A Brunetti and V Brescia Morra and M Salvatore},

doi = {10.1177/1352458509351896},

issn = {1477-0970},

year  = {2010},

date = {2010-01-01},

journal = {Mult Scler},

volume = {16},

number = {1},

pages = {45--54},

abstract = {Previous studies have shown a preferential loss of grey matter in fronto-temporal regions in patients with multiple sclerosis. Studies of correlates of disease severity are more controversial, because some studies have suggested an association between sensorimotor cortex atrophy and Expanded Disability Status Scale score, while others did not find such a correlation. The objective of this study was to assess the correlation of regional loss of grey matter and white matter with indexes of clinical and radiological severity in relapsing-remitting multiple sclerosis, including the Expanded Disability Status Scale and lesion load. Correlations between Expanded Disability Status Scale, lesion load and disease duration were assessed in 128 patients with relapsing-remitting multiple sclerosis (Expanded Disability Status Scale range 1.0-6.0) using optimized voxel-based morphometry. Bilateral loss of grey matter in sensorimotor cortices was correlated with Expanded Disability Status Scale, and tissue loss also involved adjacent white matter, extending along pyramidal tracts to the brainstem. Increasing lesion load was correlated with loss of deep grey matter and white matter. No specific region of grey matter or white matter showed a significant correlation with disease duration. These findings support the hypothesis that motor neuron involvement plays a major role in the progression of physical disability. Lesion load accrual affects mainly highly interconnected subcortical structures, while disease duration has a less significant impact on brain atrophy, probably owing to the inter-subject heterogeneity of the clinical course of the disease.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid18338947,

title = {Multiple sclerosis and hepatitis C virus infection are associated with single nucleotide polymorphisms in interferon pathway genes},

author = {Giuliana Fortunato and Giuseppe Calcagno and Vincenzo Bresciamorra and Elena Salvatore and Alessandro Filla and Silvana Capone and Rosario Liguori and Salvatore Borelli and Ivan Gentile and Francesco Borrelli and Guglielmo Borgia and Lucia Sacchetti},

doi = {10.1089/jir.2007.0049},

issn = {1079-9907},

year  = {2008},

date = {2008-03-01},

journal = {J Interferon Cytokine Res},

volume = {28},

number = {3},

pages = {141--152},

abstract = {We have studied 35 single nucleotide polymorphisms (SNPs) in the interferon (IFN) pathway to determine their contribution to multiple sclerosis (MS) and hepatitis C virus (HCV) infection. A total of 182 patients with MS, 103 patients with chronic hepatitis C, and 118 control subjects were enrolled in the study. Of the 35 SNPs studied, 3 were in IFN-alpha receptor (IFNAR-1), 10 in IFN-alpha/beta receptor (IFNAR-2), 9 in Stat1, 5 in Stat2, and 8 in IFN regulatory factor-1 (IRF-1). Compared to controls, Stat1 gene polymorphisms were significantly more frequent in MS patients (rs# 2066802 OR = 7.46, 95% CI = 2.22-25.10; rs# 1547550 OR = 1.69, 95% CI = 1.01-2.81) and in HCV patients (rs# 2066802 OR = 5.95, 95% CI = 1.55-22.81; rs# 1547550 OR = 2.30, 95% CI = 1.24-4.24). Also one IRF-1 gene SNP was associated with MS (rs# 2070721 OR = 2.05, 95% CI = 1.03-4.09), and four IRF-1 gene SNPs were associated with HCV infection (rs# 2070721 OR = 2.59, 95% CI = 1.23-5.43; rs# 2070723 OR = 4.8, 95% CI = 1.26-18.20; rs# 2070728 OR = 9.81, 95% CI = 1.21-79.4; rs# 2070729 OR = 3.6, 95% CI = 1.23-10.48; rs# 839 OR = 4.67, 95%CI = 1.29-16.87). Characteristic nucleotide combinations on single chromosomes (haplotype) generated block structures, including SNPs, that differed between patients and controls. Using a permutation test to detect differences in haplotype distribution between groups, the CCATTGA and the CCGAA haplotypes in the IRF-1 gene were more frequent in MS (p = 0.03) and in HCV patients (p = 0.001) than in controls. In conclusion, our data show that genetic variants in the IRF-1 and Stat1 genes of the IFN pathway are associated with MS and HCV infection.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid17673234,

title = {Correlation between fatigue and brain atrophy and lesion load in multiple sclerosis patients independent of disability},

author = {Gioacchino Tedeschi and Daria Dinacci and Luigi Lavorgna and Anna Prinster and Giovanni Savettieri and Aldo Quattrone and Paolo Livrea and Corrado Messina and Arturo Reggio and Giovanna Servillo and Vincenzo Bresciamorra and Giuseppe Orefice and Marcantonio Paciello and Arturo Brunetti and Andrea Paolillo and Gabriella Coniglio and Simona Bonavita and Alfonso Di Costanzo and Alessandra Bellacosa and Paola Valentino and Mario Quarantelli and Francesco Patti and Giuseppe Salemi and Enrico Cammarata and Isabella Simone and Marco Salvatore and Vincenzo Bonavita and Bruno Alfano},

doi = {10.1016/j.jns.2007.07.004},

issn = {0022-510X},

year  = {2007},

date = {2007-12-01},

journal = {J Neurol Sci},

volume = {263},

number = {1-2},

pages = {15--19},

abstract = {BACKGROUND: Fatigue is a major problem in multiple sclerosis (MS), and its association with MRI features is debated.nnOBJECTIVE: To study the correlation between fatigue and lesion load, white matter (WM), and grey matter (GM), in MS patients independent of disability.nnMETHODS: We studied 222 relapsing remitting MS patients with low disability (scores or=5; n=197) and low-fatigue groups (FSS
keywords = {},

pubstate = {published},

tppubtype = {article}

}