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1. Is overwork weakness relevant in Charcot–Marie–Tooth disease?

Author

Piscosquito, G, Reilly, M M, Schenone, A, Fabrizi, G M, Cavallaro, T, Santoro, L, Vita, G, Quattrone, A, Padua, L, Gemignani, F, Visioli, F, Laurà, M, Calabrese, D, Hughes, R A C, Radice, D, Solari, A, Pareyson, D, Marchesi, C, Salsano, E, Nanetti, L, Marelli, C, Scaioli, V, Ciano, C, Rimoldi, M, Lauria, G, Rizzetto, E, Camozzi, F, Narciso, E, Grandis, M, Monti-Bragadin, M, Nobbio, L, Casano, A, Bertolasi, L, Cabrini, I, Corrà, K, Rizzuto, N, Manganelli, F, Pisciotta, C, Nolano, M, Mazzeo, A, Di Leo, R, Majorana, G, Russo, M, Valentino, P, Nisticò, R, Pirritano, D, Lucisano, A, Canino, M, Pazzaglia, C, Granata, G, Foschini, M, Brindani, F, Vitetta, F, Allegri, I, Bogani, P, Blake, J, Koltzenburg, M, Hutton, E, and Lunn, M

Published
2014
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2. PMP22 messenger RNA levels in skin biopsies: testing the effectiveness of a Charcot–Marie–Tooth 1A biomarker

Author

Nobbio, Lucilla, Visigalli, Davide, Radice, Davide, Fiorina, Elisabetta, Solari, Alessandra, Lauria, Giuseppe, Reilly, Mary M., Santoro, Lucio, Schenone, Angelo, Pareyson, Davide, Pareyson, D., Marchesi, C., Salsano, E., Nanetti, L., Marelli, C., Scaioli, V., Ciano, C., Rimoldi, M., Lauria, G., Rizzetto, E., Camozzi, F., Schenone, A., Narciso, E., Grandis, M., Monti-Bragadin, M., Nobbio, L., Fabrizi, G. M., Cavallaro, T., Casano, A., Bertolasi, L., Cabrini, I., Corrà, K., Rizzuto, N., Santoro, L., Manganelli, F., Pisciotta, C., Nolano, M., Vita, G., Mazzeo, A., Aguennouz, M., Di Leo, R., Majorana, G., Lanzano, N., Valenti, F., Quattrone, A., Valentino, P., Nisticò, R., Pirritano, D., Lucisano, A., Canino, M., Padua, L., Pazzaglia, C., Granata, G., Foschini, M., Gemignani, F., Brindani, F., Vitetta, F., Allegri, I., Visioli, F., Bogani, P., and Visioli, F.

Published
2014
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15. Nerve conduction velocity in CMT1A: what else can we tell?

Author

MANGANELLI, FIORE, PISCIOTTA, CHIARA, SANTORO, LUCIO, IODICE, ROSA, Reilly, Mm, Tozza, S, Schenone, A, Fabrizi, Gm, Cavallaro, T, Vita, G, Padua, L, Gemignani, F, Laurà, M, Hughes, Ra, Solari, A, Pareyson, D, Nolano, M, Grandis, M, Cabrini, I, Bertolasi, L, Mazzeo, A, Majorana, G, Vitetta, F, Scaioli, V, Ciano, C, Calabrese, D, Quattrone, A, Blake, J., Manganelli, Fiore, Pisciotta, Chiara, Reilly, Mm, Tozza, S, Schenone, A, Fabrizi, Gm, Cavallaro, T, Vita, G, Padua, L, Gemignani, F, Laurà, M, Hughes, Ra, Solari, A, Pareyson, D, Santoro, Lucio, Nolano, M, Iodice, Rosa, Grandis, M, Cabrini, I, Bertolasi, L, Mazzeo, A, Majorana, G, Vitetta, F, Scaioli, V, Ciano, C, Calabrese, D, Quattrone, A, and Blake, J.

Subjects
0301 basic medicine, Adult, Male, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Charcot−Marie−Tooth disease, CMT-TRIAAL/CMT-TRAUK, CMT1A, hereditary neuropathies, nerve conduction velocity, Neurology, Neurology (clinical), Neural Conduction, Action Potentials, Sensory system, hereditary neuropathie, Nerve conduction velocity, Article, 03 medical and health sciences, Myelin, Young Adult, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Internal medicine, medicine, Humans, Ulnar nerve, Aged, business.industry, Middle Aged, Ascorbic acid, Pathophysiology, Surgery, Electrophysiology, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, medicine.anatomical_structure, Italy, Cardiology, Female, business, Axonal degeneration, 030217 neurology & neurosurgery, Settore MED/34 - MEDICINA FISICA E RIABILITATIVA
Abstract

Background and purpose Charcot-Marie-Tooth disease (CMT) type 1A is characterized by uniformly reduced nerve conduction velocity (NCV) that is fully penetrant since the first years of life, remains fairly stable through the life and does not correlate with disability whereas compound muscular action potential (CMAP) amplitude does. The aim of the present study was to analyze the large amount of electrophysiological data collected in the ascorbic acid trial in Italy and the UK (CMT-TRIAAL/CMT-TRAUK) and to use these data to gain insights into the pathophysiology of NCV in CMT1A. Methods Baseline electrophysiological data from 271 patients were analysed. Electrophysiological recordings were taken from the motor ulnar, median and peroneal nerves and the sensory ulnar nerve. Distal motor latency (DML), motor (MNCV) and sensory (SNCV) nerve conduction velocity, and amplitudes of CMAPs and sensory action potentials were assessed. Electrophysiological findings were correlated with age of patients at examination and the Charcot–Marie−Tooth Examination Score (CMTES). Results NCV was markedly and uniformly reduced. CMAP amplitudes were overall reduced but more severely in lower limbs. DML decreased and MNCV and SNCV increased with age of the patients, whereas CMAP amplitudes worsened with age and also correlated with CMTES. Conclusions This is the largest sample of electrophysiological data obtained so far from CMT1A patients. Axonal degeneration as assessed by means of CMAP amplitude reflected clinical impairment and was consistent with a slowly progressive length-dependent neuropathy. All patients typically had markedly slowed NCV that did, however, slightly increase with age of the patients. The improvement of NCV might depend on myelin thickness remodelling that occurs during the adult life of CMT1A patients.

Published
2016

21. Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial

Author

Pareyson, D, Reilly, Mm, Schenone, A, Fabrizi, Gm, Cavallaro, T, Vita, G, Quattrone, A, Padua, L, Gemignani, F, Visioli, F, Laurà, M, Radice, D, Calabrese, D, Hughes, Ra, Solari, A, Marchesi, C, Salsano, E, Nanetti, L, Marelli, C, Scaioli, V, Ciano, C, Rimoldi, M, Lauria, G, Rizzetto, E, Camozzi, F, Narciso, E, Grandis, M, Monti Bragadin, M, Nobbio, L, Casano, A, Bertolasi, L, Cabrini, I, Corrà, K, Rizzuto, N, Santoro, L, Nolano, M, Mazzeo, A, Aguennouz, M, Di Leo, R, Majorana, G, Lanzano, N, Valenti, F, Valentino, P, Nisticò, R, Pirritano, D, Lucisano, A, Canino, M, Pazzaglia, C, Granata, G, Foschini, M, Brindani, F, Vitetta, F, Allegri, I, Bogani, P, Blake, J, Koltzenburg, M, Hutton, E, Lunn, M, Mancardi, Gl, Cavaletti, G, Galimberti, S, Ferrari, G, Sereda, M., NOLANO, MARIA, SANTORO, LUCIO, MANGANELLI, FIORE, PISCIOTTA, CHIARA, Pareyson, D, Reilly, Mm, Schenone, A, Fabrizi, Gm, Cavallaro, T, Santoro, Lucio, Vita, G, Quattrone, A, Padua, L, Gemignani, F, Visioli, F, Laurà, M, Radice, D, Calabrese, D, Hughes, Ra, Solari, A, Marchesi, C, Salsano, E, Nanetti, L, Marelli, C, Scaioli, V, Ciano, C, Rimoldi, M, Lauria, G, Rizzetto, E, Camozzi, F, Narciso, E, Grandis, M, Monti Bragadin, M, Nobbio, L, Casano, A, Bertolasi, L, Cabrini, I, Corrà, K, Rizzuto, N, Santoro, L, Manganelli, Fiore, Pisciotta, Chiara, Nolano, M, Mazzeo, A, Aguennouz, M, Di Leo, R, Majorana, G, Lanzano, N, Valenti, F, Valentino, P, Nisticò, R, Pirritano, D, Lucisano, A, Canino, M, Pazzaglia, C, Granata, G, Foschini, M, Brindani, F, Vitetta, F, Allegri, I, Bogani, P, Blake, J, Koltzenburg, M, Hutton, E, Lunn, M, Mancardi, Gl, Cavaletti, G, Galimberti, S, Ferrari, G, Sereda, M., Nolano, Maria, Reilly, M, Fabrizi, G, Hughes, R, for the CMT, T, CMT TRAUK, G, and CMT TRAUK, g. r. o. u. p. s.

Subjects
Male, patients, Antioxidants, law.invention, 0302 clinical medicine, Randomized controlled trial, law, Charcot-Marie-Tooth Disease, Charcot-Marie-Tooth disease type 1A, 0303 health sciences, CMT1A, ascorbic acid, neuropathy, trial, Middle Aged, Charcot-Marie-Tooth Disease Type 1A, drug therapy, 3. Good health, Settore MED/26 - NEUROLOGIA, Treatment Outcome, Tolerability, Female, Antioxidant, Human, Adult, medicine.medical_specialty, SF-36, Adolescent, Clinical Neurology, double-blind controlled trial, Placebo, Double blind, 03 medical and health sciences, Acido ascorbico, Double-Blind Method, Internal medicine, medicine, Fast track — Articles, Humans, Adverse effect, 030304 developmental biology, Aged, business.industry, Ascorbic acid, Adolescent, Adult, Aged, Antioxidants, therapeutic use, Ascorbic Acid, therapeutic use, Charcot-Marie-Tooth Disease, drug therapy, Double-Blind Method, Female, Humans, Male, Middle Aged, Treatment Outcome, Surgery, therapeutic use, Charcot Marie Tooth, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract

Summary Background Ascorbic acid reduced the severity of neuropathy in transgenic mice overexpressing peripheral myelin protein 22 ( PMP22 ), a model of Charcot–Marie–Tooth disease type 1A (CMT1A) associated with the PMP22 duplication. However, in three 1-year trials, ascorbic acid had no benefit in human beings. We did a multicentre 2-year trial to test the efficacy and tolerability of ascorbic acid in patients with CMT1A. Methods Adult patients (aged 18–70 years) with symptomatic CMT1A were enrolled from nine centres in Italy and the UK, and were randomly assigned (1:1 ratio) to receive 1·5 g/day oral ascorbic acid or matching placebo for 24 months. The randomisation sequence was computer generated by block randomisation, stratified by centre and disease severity, and patients were allocated to treatment by telephone. The primary outcome was change in the CMT neuropathy score (CMTNS) at 24 months. Secondary outcomes were timed 10 m walk test, nine-hole peg test, overall neuropathy limitations scale, distal maximal voluntary isometric contraction, visual analogue scales for pain and fatigue, 36-item short-form questionnaire, and electrophysiological measurements. Patients, treating physicians, and physicians assessing outcome measures were masked to treatment allocation. Analysis of the primary outcome was done on all randomised patients who received at least one dose of study drug. This study is registered, numbers ISRCTN61074476 (CMT-TRAUK) and EudraCT 2006-000032-27 (CMT-TRIAAL). Findings We enrolled and randomly assigned 277 patients, of whom six (four assigned to receive ascorbic acid) withdrew consent before receiving treatment; 138 receiving ascorbic acid and 133 receiving placebo were eligible for analysis. Treatment was well tolerated: 241 of 271 patients (89% in each group) completed the study; 20 patients (nine receiving ascorbic acid) dropped out because of adverse events. Mean CMTNS at baseline with missing data imputed was 14·7 (SD 4·8) in the ascorbic acid group and 13·9 (4·2) in the placebo group. Mean worsening of CMTNS was 0·2 (SD 2·8, 95% CI −0·3 to 0·7) in the ascorbic acid group and 0·2 (2·7, −0·2 to 0·7) in the placebo group (mean difference 0·0, 95% CI −0·6 to 0·7; p=0·93). We recorded no differences between the groups for the secondary outcomes at 24 months. 21 serious adverse events occurred in 20 patients, eight in the ascorbic acid group and 13 in the placebo group. Interpretation Ascorbic acid supplementation had no significant effect on neuropathy compared with placebo after 2 years, suggesting that no evidence is available to support treatment with ascorbic acid in adults with CMT1A. Funding Telethon-UILDM and AIFA (Italian Medicines Agency) for CMT-TRI AA L, and Muscular Dystrophy Campaign for CMT-TRAUK.

Published
2011

22. Responsiveness of clinical outcome measures in Charcot-Marie-Tooth disease

Author

Piscosquito, G., Reilly, M. M., Schenone, A., Fabrizi, G. M., Cavallaro, T., Santoro, L., Manganelli, F., Vita, G., Quattrone, A., Padua, L., Gemignani, F., Visioli, F., Laurà, M., Calabrese, D., Hughes, R. A. C., Radice, D., Solari, A., Pareyson, D, Marchesi, C, Salsano, E, Nanetti, L, Marelli, C, Scaioli, V, Ciano, C, Rimoldi, M, Lauria, G, Ferrari, G, Rizzetto, E, Camozzi, F, Narciso, E, Grandis, M, Monti-Bragadin, M, Nobbio, L, Casano, A, Bertolasi, L, Cabrini, I, Corrà, K, Rizzuto, N, Pisciotta, C, Nolano, M, Mazzeo, A, R Di Leo, Majorana, G, Russo, M, Valentino, P, Nisticò, R, Pirritano, D, Lucisano, A, Canino, M, Pazzaglia, C, Granata, G, Foschini, M, Brindani, F, Vitetta, F, Allegri, I, Bogani, P, Blake, J, Koltzenburg, M, Hutton, E, Lunn, M, Piscosquito, G, Reilly, M. M, Schenone, A, Fabrizi, G. M, Cavallaro, T, Santoro, Lucio, Manganelli, Fiore, Vita, G, Quattrone, A, Padua, L, Gemignani, F, Visioli, F, Laurà, M, Calabrese, D, Hughes, R. A. C, Radice, D, Solari, A, Pareyson, D., and Nolano, Maria

Subjects
Adult, Male, Change over time, medicine.medical_specialty, responsiveness, Charcot−Marie−Tooth disease, Disease, Placebo, hereditary motor sensory neuropathy, Tooth disease, Charcot-Marie-Tooth Disease, Outcome Assessment, Health Care, Humans, Medicine, Charcot-Marie-Tooth disease, Clinical trials, Evaluative outcome measures, Hereditary motor sensory neuropathy, Responsiveness, Clinical Trials as Topic, Exercise Test, Female, Middle Aged, Outcome Assessment (Health Care), Neurology, Neurology (clinical), clinical trials, evaluative outcome measures, evaluative outcome measure, business.industry, Outcome measures, clinical trial, Charcot−Marie−Tooth disease,clinical trials,evaluative outcome measures,hereditary motor sensory neuropathy,responsiveness, Ascorbic acid, Clinical trial, Settore MED/26 - NEUROLOGIA, medicine.anatomical_structure, Physical therapy, Upper limb, business, Settore MED/34 - MEDICINA FISICA E RIABILITATIVA
Abstract

Background and purpose Charcot−Marie−Tooth disease (CMT) is a very slowly progressive neuropathy which makes it difficult to detect disease progression over time and to assess intervention efficacy. Experience from completed clinical trials with ascorbic acid and natural history studies confirm difficulties in detecting such changes. Consequently, sensitive-to-change outcome measures (OMs) are urgently needed. Methods The relative responsiveness of clinical scales of the Italian−UK ascorbic acid trial (placebo arm) were assessed by using the standardized response mean (SRM), which is the ratio of the paired scores mean change over time to the standard deviation of the score change (0 is worst responsiveness). Results Little worsening of OM scores was found over 2 years. In detail, the primary OM of the trial, the CMT Neuropathy Score version 1 (CMTNSv1), showed low responsiveness (SRM 0.13). Some CMTNS items showed slightly greater responsiveness (CMT Examination Score 0.17; CMTNS Signs 0.19). Myometric assessments of handgrip and foot dorsiflexion strength were the most responsive (SRM −0.31 and −0.38, respectively). Amongst the other measures, the nine-hole peg test, which assesses upper limb functioning, showed the best sensitivity to change (SRM 0.28). Conclusions Overall these OMs showed low or negligible responsiveness, confirming the need to improve current OMs and to develop novel ones for prognostic and interventional studies. However, handgrip and foot dorsiflexion myometry are worth retaining for future trials as they were the most responsive and are likely to be clinically relevant for patients.

Published
2015

23. Reliability of clinical outcome measures in Charcot-Marie-Tooth disease

Author

Solari, A, Laurà, M, Salsano, E, Radice, D, Pareyson, D, Marelli, C, Scaioli, V, Ciano, C, Rimoldi, M, Lauria, G, Rizzetto, E, Camozzi, F, Schenone, A, Grandis, M, Narciso, E, Nobbio, L, Benedetti, L, Rizzuto, N, Fabrizi, Gm, Cavallaro, T, Bertolasi, L, Casano, A, Nolano, M, Vita, G, Mazzeo, A, Di Leo, R, Girlanda, P, Majorana, G, Aguennouz, M, Ciranni, A, Lanzano, N, Quattrone, A, Valentino, P, Nisticò, R, Pirritano, D, Clodomiro, A, Canino, M, Padua, L, Pazzaglia, C, Mignogna, T, Gemignani, F, Brindani, F, Vitetta, F, Visioli, F, Bogani, P, Hughes, Ra, Mancardi, Gl, Cavaletti, G, Galimberti, S, Calabrese, D, Ferrari, G, Santoro, L, Sereda, Mw, Lauria, G., SANTORO, LUCIO, MANGANELLI, FIORE, PISCIOTTA, CHIARA, Solari, A, Laurà, M, Salsano, E, Radice, D, Pareyson, D, Marelli, C, Scaioli, V, Ciano, C, Rimoldi, M, Lauria, G, Rizzetto, E, Camozzi, F, Schenone, A, Grandis, M, Narciso, E, Nobbio, L, Benedetti, L, Rizzuto, N, Fabrizi, Gm, Cavallaro, T, Bertolasi, L, Casano, A, Santoro, Lucio, Manganelli, Fiore, Pisciotta, Chiara, Nolano, M, Vita, G, Mazzeo, A, Di Leo, R, Girlanda, P, Majorana, G, Aguennouz, M, Ciranni, A, Lanzano, N, Quattrone, A, Valentino, P, Nisticò, R, Pirritano, D, Clodomiro, A, Canino, M, Padua, L, Pazzaglia, C, Mignogna, T, Gemignani, F, Brindani, F, Vitetta, F, Visioli, F, Bogani, P, Hughes, Ra, Mancardi, Gl, Cavaletti, G, Galimberti, S, Calabrese, D, Ferrari, G, Santoro, L, Sereda, Mw, and Lauria, G.

Published
2008

24. Is overwork weakness relevant in Charcot-Marie-Tooth disease?

Author

Piscosquito, G., Reilly, M. M., Schenone, A., Fabrizi, G. M., Cavallaro, T., Santoro, L., Vita, G., Quattrone, A., Padua, L., Gemignani, F., Visioli, F., Laura, M., Calabrese, D., Hughes, R. A. C., Radice, D., Solari, A., Pareyson, D., Marchesi, C., Salsano, E., Nanetti, L., Marelli, C., Scaioli, V., Ciano, C., Rimoldi, M., Lauria, G., Rizzetto, E., Camozzi, F., Narciso, E., Grandis, M., Monti Bragadin, M., Nobbio, L., Casano, A., Bertolasi, L., Cabrini, I., Corra, K., Rizzuto, N., Manganelli, F., Pisciotta, C., Nolano, M., Mazzeo, A., Di Leo, R., Majorana, G., Russo, M., Valentino, P., Nistico, R., Pirritano, D., Lucisano, A., Canino, M., Pazzaglia, C., Granata, G., Foschini, M., Brindani, F., Vitetta, F., Allegri, I., Bogani, P., Blake, J., Koltzenburg, M., Hutton, E., Lunn, M., G., Piscosquito, M. M., Reilly, A., Schenone, G. M., Fabrizi, T., Cavallaro, Santoro, Lucio, G., Vita, A., Quattrone, L., Padua, F., Gemignani, F., Visioli, M., Laura, D., Calabrese, R. A. C., Hughe, D., Radice, A., Solari, D., Pareyson, C., Marchesi, E., Salsano, L., Nanetti, C., Marelli, V., Scaioli, C., Ciano, M., Rimoldi, G., Lauria, E., Rizzetto, F., Camozzi, E., Narciso, M., Grandi, M., Monti Bragadin, L., Nobbio, A., Casano, L., Bertolasi, I., Cabrini, K., Corra, N., Rizzuto, Manganelli, Fiore, Pisciotta, Chiara, M., Nolano, A., Mazzeo, R., Di Leo, G., Majorana, M., Russo, P., Valentino, R., Nistico, D., Pirritano, A., Lucisano, M., Canino, C., Pazzaglia, G., Granata, M., Foschini, F., Brindani, F., Vitetta, I., Allegri, P., Bogani, J., Blake, M., Koltzenburg, E., Hutton, and M., Lunn

Subjects
Adult, Male, REHABILITATION, congenital, hereditary, and neonatal diseases and abnormalities, Weakness, medicine.medical_specialty, Neuromuscular disease, Adolescent, Cumulative Trauma Disorders, medicine.medical_treatment, physical activity, Neurogenetics, CLINICAL NEUROLOGY, overwork weakness, Functional Laterality, Young Adult, Charcot-Marie-Tooth Disease, Hand strength, medicine, Humans, Muscle Strength, Young adult, Muscle, Skeletal, Aged, Charcot-Marie-Tooth disease, lower limb, muscles, rehabilitation, Rehabilitation, Muscle Weakness, NEUROGENETICS, Hand Strength, business.industry, NEUROPATHY, Muscle weakness, Middle Aged, medicine.disease, Gait, Psychiatry and Mental health, Settore MED/26 - NEUROLOGIA, Physical therapy, Surgery, Female, HMSN (CHARCOT-MARIE-TOOTH), Neurology (clinical), medicine.symptom, business
Abstract

BACKGROUND: In overwork weakness (OW), muscles are increasingly weakened by exercise, work or daily activities. Although it is a well-established phenomenon in several neuromuscular disorders, it is debated whether it occurs in Charcot-Marie-Tooth disease (CMT). Dominant limb muscles undergo a heavier overload than non-dominant and therefore if OW occurs we would expect them to become weaker. Four previous studies, comparing dominant and non-dominant hand strength in CMT series employing manual testing or myometry, gave contradictory results. Moreover, none of them examined the behaviour of lower limb muscles. METHODS: We tested the OW hypothesis in 271 CMT1A adult patients by comparing bilateral intrinsic hand and leg muscle strength with manual testing as well as manual dexterity. RESULTS: We found no significant difference between sides for the strength of first dorsal interosseous, abductor pollicis brevis, anterior tibialis and triceps surae. Dominant side muscles did not become weaker than non-dominant with increasing age and disease severity (assessed with the CMT Neuropathy Score); in fact, the dominant triceps surae was slightly stronger than the non-dominant with increasing age and disease severity. DISCUSSION: Our data does not support the OW hypothesis and the consequent harmful effect of exercise in patients with CMT1A. Physical activity should be encouraged, and rehabilitation remains the most effective treatment for CMT patients. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Published
2014
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25. PMP22 messenger RNA levels in skin biopsies: testing the effectiveness of a Charcot-Marie-Tooth 1A biomarker

Author

Nobbio, L, Visigalli, D, Radice, D, Fiorina, E, Solari, A, Lauria, G, Reilly, Mm, Santoro, L, Schenone, A, Pareyson, D, Marchesi, C, Salsano, E, Nanetti, L, Marelli, C, Scaioli, V, Ciano, C, Rimoldi, M, Rizzetto, E, Camozzi, F, Narciso, E, Grandis, M, Monti, M, Fabrizi, G, Cavallaro, T, Casano, A, Bertolasi, L, Cabrini, I, Corra, K, Rizzuto, N, Manganelli, F, Pisciotta, C, Nolano, M, Vita, Giuseppe, Mazzeo, Anna, Aguennouz, M'Hammed, DI LEO, Rita, Majorana, G, Lanzano, N, Valenti, F, Quattrone, A, Valentino, P, Nistico, R, Pirritano, D, Lucisano, A, Canino, M, Padua, L, Pazzaglia, C, Granata, G, Foschini, M, Gemignani, F, Brindani, F, Vitetta, F, Allegri, I, Visioli, F, Bogani, P, and Visioli, F.

Published
2014

26. Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients

Author

Mannil, M., Solari, A., Leha, A., Pelayo-Negro, A. L., Berciano, J., Schlotter-Weigel, B., Walter, M. C., Rautenstrauss, B., Schnizer, T. J., Schenone, A., Seeman, P., Kadian, C., Schreiber, O., Angarita, N. G., Fabrizi, G. M., Gemignani, F., Padua, L., Santoro, L., Quattrone, A., Vita, G., Calabrese, D., Marchesi, C., Salsano, E., Nanetti, L., Marelli, C., Scaioli, V., Ciano, C., Rimoldi, M., Lauria, G., Rizzetto, E., Camozzi, F., Narciso, E., Grandis, M., Monti-Bragadin, M., Nobbio, L., Cavallaro, T., Casano, A., Bertolasi, L., Cabrini, I., Corra, K., Manganelli, F., Pisciotta, C., Nolano, M., Mazzeo, A., Aguennouz, M., Di Leo, R., Majorana, G., Lanzano, N., Valenti, F., Valentino, P., Nistico, R., Pirritano, D., Lucisano, A., Canino, M., Pazzaglia, C., Granata, G., Foschini, M., Brindani, F., Vitetta, F., Allegri, I., Visioli, F., Bogani, P., Blake, J., Koltzenburg, M., Hutton, E., Lunn, M., Young, P., Laura, M., Haberlova, J., Mazanec, R., Paulus, W., Beissbarth, T., Shy, M. E., Reilly, M. M., Pareyson, D., Sereda, M. W., Manoj, Mannil, Alessandra, Solari, Andreas, Leha, Ana L., Pelayo Negro, Josè, Berciano, Beate Schlotter, Weigel, Maggie C., Walter, Bernd, Rautenstrau, Tuuli J., Schnizer, Angelo, Schenone, Pavel, Seeman, Chandini, Kadian, Olivia, Schreiber, Natalia G., Angarita, Gian Maria, Fabrizi, Franco, Gemignani, Luca, Padua, Santoro, Lucio, Aldo, Quattrone, Giuseppe, Vita, Daniela, Calabrese, Cmt, Trial, Manganelli, Fiore, CMT TRIAL Chiara, Pisciotta, CMT TRAUK, Group, Peter, Young, Matilde, Laurà, Jana, Haberlova, Radim, Mazanec, Walter, Paulu, Tim, Beissbarth, Michael E., Shy, Mary M., Reilly, Davide, Pareyson, and Michael W., Sereda

Subjects
Male, Outcome Assessment, CMTNS, Disease, Ascorbic Acid, Walking, Severity of Illness Index, Antioxidants, Cohort Studies, Charcot-Marie-Tooth Disease, Outcome Assessment, Health Care, Charcot-Marie-Tooth, CMT1A, HMSN, secondary clinical outcome measures, score generation, Cluster Analysis, Age Factor, Genetics (clinical), Score generation, Secondary clinical outcome measures, Adolescent, Adult, Age Factors, Disease Progression, Double-Blind Method, Female, Humans, Middle Aged, Muscle Strength, Pain Measurement, Psychomotor Performance, Young Adult, Snap, Outcome measures, Dorsal flexion, Compound muscle action potential, Settore MED/26 - NEUROLOGIA, Secondary clinical outcome measure, Neurology, Antioxidant, Human, medicine.medical_specialty, Outcome Assessment (Health Care), Physical medicine and rehabilitation, Disease severity, medicine, Sensory symptoms, Cluster Analysi, business.industry, Health Care, Pediatrics, Perinatology and Child Health, Sensory nerve action potential, Neurology (clinical), Cohort Studie, business
Abstract

This study evaluates primary and secondary clinical outcome measures in Charcot-Marie-Tooth disease type 1A (CMT1A) with regard to their contribution towards discrimination of disease severity. The nine components of the composite Charcot-Marie-Tooth disease Neuropathy Score and six additional secondary clinical outcome measures were assessed in 479 adult patients with genetically proven CMT1A and 126 healthy controls. Using hierarchical clustering, we identified four significant clusters of patients according to clinical severity. We then tested the impact of each of the CMTNS components and of the secondary clinical parameters with regard to their power to differentiate these four clusters. The CMTNS components ulnar sensory nerve action potential (SNAP), pin sensibility, vibration and strength of arms did not increase the discriminant value of the remaining five CMTNS components (Ulnar compound motor action potential [CMAP], leg motor symptoms, arm motor symptoms, leg strength and sensory symptoms). However, three of the six additional clinical outcome measures the 10 m-timed walking test (T10MW), 9 hole-peg test (9HPT), and foot dorsal flexion dynamometry further improved discrimination between severely and mildly affected patients. From these findings, we identified three different composite measures as score hypotheses and compared their discriminant power with that of the CMTNS. A composite of eight components CMAP, Motor symptoms legs, Motor symptoms arms, Strength of Legs, Sensory symptoms), displayed the strongest power to discriminate between the clusters. As a conclusion, five items from the CMTNS and three secondary clinical outcome measures improve the clinical assessment of patients with CMT1A significantly and are beneficial for upcoming clinical and therapeutic trials. (C) 2014 Elsevier B.V. All rights reserved.

Published
2014
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27. Vitamin C and Charcot-Marie-Tooth 1A: Pharmacokinetic considerations

Author

Visioli, F, Reilly, Mm, Rimoldi, M, Solari, A, Pareyson, D, Marchesi, C, Salsano, E, Nanetti, L, Marelli, C, Scaioli, V, Ciano, C, Lauria, G, Rizzetto, E, Camozzi, F, Schenone, Angelo, Narciso, E, Grandis, Marina, Monti Bragadin, M, Nobbio, Lucilla, Fabrizi, Gm, Cavallaro, T, Casano, A, Bertolasi, L, Cabrini, I, Corrà, K, Rizzuto, N, Santoro, L, Manganelli, F, Pisciotta, C, Nolano, M, Vita, G, Mazzeo A, ., Aguennouz, M, Di Leo, R, Majorana, G, Lanzano N, ., Valenti, F, Quattrone, A, Valentino, P, Nisticò, R, Pirritano, D, Lucisano, A, Canino, M, Padua, L, Pazzaglia, C, Granata, G, Foschini, M, Gemignani, F, Brindani, F, Vitetta, F, Allegri, I, Bogani, P. ., Visioli, F, Reilly, Mm, Rimoldi, M, Solari, A, Pareyson, D, Manganelli, Fiore, Cmt, Triaal2, CMT TRAUK, Group, Pisciotta, Chiara, Santoro, Lucio, and for the CMT, Triaal

Subjects
Drug, congenital, hereditary, and neonatal diseases and abnormalities, Ascorbic acid, Charcot-Marie-Tooth disease, Myelin, Neuromuscular disorders, Pharmacology, Pharmacology (medical), Food Science, media_common.quotation_subject, Disease, Charcot–Marie–Tooth disease, Article, law.invention, Randomized controlled trial, Pharmacokinetics, law, Medicine, media_common, Vitamin C, business.industry, Clinical trial, Tolerability, business
Abstract

Highlights ► Charcot-Marie-Tooth 1A cannot rely on effective pharmacological treatment. ► Several human trials failed to provide evidence of a therapeutic role of vitamin C. ► Human vitamin C's pharmacokinetics are tightly regulated. ► Ascorbic acid should not be given in excess of its transport system capacity., Charcot–Marie–Tooth 1A disease (CMT1A) is a disease for which no drug treatments are available. In 2004, it was reported that ascorbic acid reduced the severity of neuropathy in transgenic mice overexpressing PMP22, an animal model of human CMT1A, compared with untreated mice. Based on those results, clinical trials were undertaken at different centers worldwide and four of them have been completed, but none of them resulted in significant improvements. Based on the pharmacokinetics of ascorbic acid, we propose that the randomized clinical trial carried out thus far confirmed the tight control of ascorbic acid's absorption and proved its tolerability at one and two years. The pharmacokinetic considerations discussed in this article might largely explain the disappointing results of the recent CMT1A trials.

Published
2013

28. The NoEMi (Noise Frequency Event Miner) framework

Author

Accadia, T., Acernese, F., Agathos, M., Astone, P., Ballardin, G., Barone, F., Barsuglia, M., Basti, Andrea, Bauer, T. h. S., Bebronne, M., Bejger, M., Beker, M. G., Bitossi, M., Bizouard, M. A., Blom, M., Bondu, F., Bonelli, L., Bonnand, R., Boschi, V., Bosi, L., Bouhou, B., Braccini, S., Bradaschia, C., Branchesi, M., Briant, T., Brillet, A., Brisson, V., Bulik, T., Bulten, H. J., Buskulic, D., Buy, C., Calloni, E., Canuel, B., Carbognani, F., Cavalier, F., Cavalieri, R., Cella, G., Cesarini, E., Chaibi, O., Chassande, Mottin, Chincarini, E., Chiummo, A., Cleva, A., Coccia, F., Cohadon, E., P. F., Colacino, C. N., Colas, Colla, J., Colombini, A., Conte, M., Coulon, A., J. P., Cuoco, D'Antonio, E., Dattilo, S., Davier, V., Day, M., Rosa, De, Debreczeni, R., Del, Pozzo, Fiore, Di, DI LIETO, Alberto, Di Paolo Emilio, Virgilio, Di, Dietz, A., Drago, A., Endröczi, M., Fafone, G., Ferrante, Isidoro, Fidecaro, Francesco, Fiori, F., Flaminio, I., Forte, R., L. A., Fournier, J. D., Franc, Franco, J., Frasca, S., Frasconi, S., Galimberti, F., Gammaitoni, M., Garufi, L., Gáspár, F., M. E., Gemme, Genin, G., Gennai, E., Giazotto, A., Gouaty, A., Granata, R., Greverie, M., Guidi, C., G. M., Hayau, J. F., Heidmann, Heitmann, A., Hello, H., Hemming, P., Jaranowski, G., Jonker, P., R. J. G., Kasprzack, Kowalska, M., Królak, I., Leroy, A., Letendre, N., Li, N., T. G. F., Liguori, Lorenzini, N., Loriette, M., Losurdo, V., Majorana, G., Maksimovic, E., Malvezzi, I., Man, V., Mantovani, N., Marchesoni, M., Marion, F., Marque, F., Martelli, J., Masserot, F., Michel, A., Milano, C., Minenkov, L., Mohan, Y., Morgado, M., Morgia, N., Mosca, A., Mours, S., Naticchioni, B., Nocera, L., Palladino, F., Palomba, L., Paoletti, C., Paoletti, F., Parisi, R., Pasqualetti, M., Passaquieti, Roberto, Passuello, R., Persichetti, D., Piergiovanni, G., Pietka, F., Pinard, M., Poggiani, Rosa, Prato, M., Prodi, G. A., Punturo, M., Puppo, P., Rabeling, D. S., Racz, I., Rapagnani, P., Re, V., Regimbau, T., Ricci, F., Robinet, F., Rocchi, A., Rolland, L., Romano, R., Rosinska, D., Ruggi, P., Sassolas, B., Sentenac, D., Sperandio, L., Sturani, R., Swinkels, B., Tacca, M., Taffarello, L., Ter, Braack, Toncelli, Alessandra, Tonelli, Mauro, Torre, M., Tournefier, O., Travasso, E., Vajente, F., Van Den Brand, J. F. J., Van Den Broeck, Van Der Putten, Vasuth, S., Vavoulidis, M., Vedovato, M., Verkindt, G., Vetrano, D., Viceré, F., Vinet, A., J. Y., Vitale, Vocca, S., Ward, H., R. L., Was, Yamamoto, M., Yvert, K., Zadrozny, M., Zendri, A., J. P., Laboratoire d'Annecy de Physique des Particules (LAPP), Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry])-Centre National de la Recherche Scientifique (CNRS), APC - Cosmologie, AstroParticule et Cosmologie (APC (UMR_7164)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Observatoire de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Observatoire de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de l'Accélérateur Linéaire (LAL), Université Paris-Sud - Paris 11 (UP11)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS), Institut de Physique de Rennes (IPR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS), Laboratoire des matériaux avancés (LMA), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS), Astrophysique Relativiste Théories Expériences Métrologie Instrumentation Signaux (ARTEMIS), Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut national des sciences de l'Univers (INSU - CNRS)-Observatoire de la Côte d'Azur, COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Université Côte d'Azur (UCA)-Université Côte d'Azur (UCA)-Centre National de la Recherche Scientifique (CNRS), Observatoire de la Côte d'Azur (OCA), Institut national des sciences de l'Univers (INSU - CNRS)-Centre National de la Recherche Scientifique (CNRS), APC - Gravitation (APC-Gravitation), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS)-Max-Planck-Institut für Gravitationsphysik ( Albert-Einstein-Institut ) (AEI), Max-Planck-Gesellschaft-Max-Planck-Gesellschaft, Istituto Nazionale di Fisica Nucleare [Sezione di Roma 1] (INFN), Istituto Nazionale di Fisica Nucleare, Ecole Superieure de Physique et de Chimie Industrielles de la Ville de Paris (ESPCI Paris), Université Paris sciences et lettres (PSL), Institut de Chimie des Milieux et Matériaux de Poitiers (IC2MP), Université de Poitiers-Institut national des sciences de l'Univers (INSU - CNRS)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Institut de recherches sur la catalyse et l'environnement de Lyon (IRCELYON), Université de Lyon-Université de Lyon-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Research Institute of Electronics, University of Shizuoka, VIRGO, Laboratoire d'Annecy de Physique des Particules ( LAPP/Laboratoire d'Annecy-le-Vieux de Physique des Particules ), Institut National de Physique Nucléaire et de Physique des Particules du CNRS ( IN2P3 ) -Université Savoie Mont Blanc ( USMB [Université de Savoie] [Université de Chambéry] ) -Centre National de la Recherche Scientifique ( CNRS ), Physique Corpusculaire et Cosmologie - Collège de France ( PCC ), Collège de France ( CdF ) -Institut National de Physique Nucléaire et de Physique des Particules du CNRS ( IN2P3 ) -Université Paris Diderot - Paris 7 ( UPD7 ) -Centre National de la Recherche Scientifique ( CNRS ) -Collège de France ( CdF ) -Institut National de Physique Nucléaire et de Physique des Particules du CNRS ( IN2P3 ) -Université Paris Diderot - Paris 7 ( UPD7 ) -Centre National de la Recherche Scientifique ( CNRS ) -AstroParticule et Cosmologie ( APC - UMR 7164 ), Centre National de la Recherche Scientifique ( CNRS ) -Institut National de Physique Nucléaire et de Physique des Particules du CNRS ( IN2P3 ) -Observatoire de Paris-Université Paris Diderot - Paris 7 ( UPD7 ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Centre National de la Recherche Scientifique ( CNRS ) -Observatoire de Paris-Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ), Laboratoire de l'Accélérateur Linéaire ( LAL ), Université Paris-Sud - Paris 11 ( UP11 ) -Institut National de Physique Nucléaire et de Physique des Particules du CNRS ( IN2P3 ) -Centre National de la Recherche Scientifique ( CNRS ), Institut de Physique de Rennes ( IPR ), Université de Rennes 1 ( UR1 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Centre National de la Recherche Scientifique ( CNRS ), Laboratoire des matériaux avancés ( LMA ), Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Institut National de Physique Nucléaire et de Physique des Particules du CNRS ( IN2P3 ) -Centre National de la Recherche Scientifique ( CNRS ) -Centre National de la Recherche Scientifique ( CNRS ), AstroParticule et Cosmologie ( APC - UMR 7164 ), Centre National de la Recherche Scientifique ( CNRS ) -Institut National de Physique Nucléaire et de Physique des Particules du CNRS ( IN2P3 ) -Observatoire de Paris-Université Paris Diderot - Paris 7 ( UPD7 ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ), Astrophysique Relativiste Théories Expériences Métrologie Instrumentation Signaux ( ARTEMIS ), Université Nice Sophia Antipolis ( UNS ), Université Côte d'Azur ( UCA ) -Université Côte d'Azur ( UCA ) -Institut national des sciences de l'Univers ( INSU - CNRS ) -Observatoire de la Côte d'Azur, Université Côte d'Azur ( UCA ) -Centre National de la Recherche Scientifique ( CNRS ), Observatoire de la Côte d'Azur ( OCA ), Centre National de la Recherche Scientifique ( CNRS ), APC - Gravitation ( APC-Gravitation ), Centre National de la Recherche Scientifique ( CNRS ) -Institut National de Physique Nucléaire et de Physique des Particules du CNRS ( IN2P3 ) -Observatoire de Paris-Université Paris Diderot - Paris 7 ( UPD7 ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Centre National de la Recherche Scientifique ( CNRS ) -Institut National de Physique Nucléaire et de Physique des Particules du CNRS ( IN2P3 ) -Observatoire de Paris-Université Paris Diderot - Paris 7 ( UPD7 ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Max-Planck-Institut für Gravitationsphysik (Albert-Einstein-Institut), Max-Planck-Institut-Max-Planck-Institut, Istituto Nazionale di Fisica Nucleare [Sezione di Roma 1] ( INFN ), ESPCI ParisTech, Institut de Chimie des Milieux et Matériaux de Poitiers ( IC2MP ), Université de Poitiers-Centre National de la Recherche Scientifique ( CNRS ), Institut de recherches sur la catalyse et l'environnement de Lyon ( IRCELYON ), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique ( CNRS ), Observatoire de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Observatoire de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3), Centre National de la Recherche Scientifique (CNRS)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Université Paris-Sud - Paris 11 (UP11), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Université Nice Sophia Antipolis (... - 2019) (UNS), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Max-Planck-Institut für Gravitationsphysik ( Albert-Einstein-Institut ) (AEI), Centre National de la Recherche Scientifique (CNRS)-Observatoire de la Côte d'Azur, Université Côte d'Azur (UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Université Côte d'Azur (UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut national des sciences de l'Univers (INSU - CNRS)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA), T., Accadia, F., Acernese, M., Agatho, P., Astone, G., Ballardin, F., Barone, M., Barsuglia, A., Basti, Th S., Bauer, M., Bebronne, M., Bejger, M. G., Beker, M., Bitossi, M. A., Bizouard, M., Blom, F., Bondu, L., Bonelli, R., Bonnand, V., Boschi, L., Bosi, B., Bouhou, S., Braccini, C., Bradaschia, M., Branchesi, T., Briant, A., Brillet, V., Brisson, T., Bulik, H. J., Bulten, D., Buskulic, C., Buy, Calloni, Enrico, B., Canuel, F., Carbognani, F., Cavalier, R., Cavalieri, G., Cella, E., Cesarini, O., Chaibi, E., Chassande Mottin, A., Chincarini, A., Chiummo, F., Cleva, E., Coccia, P. F., Cohadon, C. N., Colacino, J., Cola, A., Colla, M., Colombini, A., Conte, J. P., Coulon, E., Cuoco, S., D'Antonio, V., Dattilo, M., Davier, R., Day, DE ROSA, Rosario, G., Debreczeni, W., Del Pozzo, L., Di Fiore, A., Di Lieto, M., Di Paolo Emilio, A., Di Virgilio, A., Dietz, M., Drago, G., Endröczi, V., Fafone, I., Ferrante, F., Fidecaro, I., Fiori, R., Flaminio, L. A., Forte, J. D., Fournier, J., Franc, S., Franco, S., Frasca, F., Frasconi, M., Galimberti, L., Gammaitoni, Garufi, Fabio, M. E., Gáspár, G., Gemme, E., Genin, A., Gennai, A., Giazotto, R., Gouaty, M., Granata, C., Greverie, G. M., Guidi, J. F., Hayau, A., Heidmann, H., Heitmann, P., Hello, G., Hemming, P., Jaranowski, R. J. G., Jonker, M., Kasprzack, I., Kowalska, A., Królak, N., Leroy, N., Letendre, T. G. F., Li, N., Liguori, M., Lorenzini, V., Loriette, G., Losurdo, E., Majorana, I., Maksimovic, V., Malvezzi, N., Man, M., Mantovani, F., Marchesoni, F., Marion, J., Marque, F., Martelli, A., Masserot, C., Michel, Milano, Leopoldo, Y., Minenkov, M., Mohan, N., Morgado, A., Morgia, S., Mosca, B., Mour, L., Naticchioni, F., Nocera, L., Palladino, C., Palomba, F., Paoletti, R., Paoletti, M., Parisi, A., Pasqualetti, R., Passaquieti, D., Passuello, G., Persichetti, F., Piergiovanni, M., Pietka, L., Pinard, R., Poggiani, M., Prato, G. A., Prodi, M., Punturo, P., Puppo, D. S., Rabeling, I., Rácz, P., Rapagnani, V., Re, T., Regimbau, F., Ricci, F., Robinet, A., Rocchi, L., Rolland, R., Romano, D., Rosińska, P., Ruggi, B., Sassola, D., Sentenac, L., Sperandio, R., Sturani, B., Swinkel, M., Tacca, L., Taffarello, A. P. M., ter Braack, A., Toncelli, M., Tonelli, O., Torre, E., Tournefier, F., Travasso, G., Vajente, J. F. J., van den Brand, C., Van Den Broeck, S., van der Putten, M., Vasuth, M., Vavoulidi, G., Vedovato, D., Verkindt, F., Vetrano, A., Viceré, J. Y., Vinet, S., Vitale, H., Vocca, R. L., Ward, M., Wa, K., Yamamoto, M., Yvert, A., Zadroźny, J. P., Zendri, Laboratoire d'Annecy de Physique des Particules (LAPP/Laboratoire d'Annecy-le-Vieux de Physique des Particules), Physique Corpusculaire et Cosmologie - Collège de France (PCC), Collège de France (CdF)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS)-Collège de France (CdF)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS)-AstroParticule et Cosmologie (APC (UMR_7164)), Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Observatoire de Paris, PSL Research University (PSL)-PSL Research University (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Observatoire de Paris, PSL Research University (PSL)-PSL Research University (PSL)-Université Paris Diderot - Paris 7 (UPD7), Université de Lyon-Université de Lyon-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), Université Côte d'Azur (UCA)-Université Côte d'Azur (UCA)-Institut national des sciences de l'Univers (INSU - CNRS)-Observatoire de la Côte d'Azur, Université Côte d'Azur (UCA)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS), PSL Research University (PSL)-PSL Research University (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Observatoire de Paris, PSL Research University (PSL)-PSL Research University (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Max-Planck-Institut für Gravitationsphysik ( Albert-Einstein-Institut ) (AEI), Université de Poitiers-Centre National de la Recherche Scientifique (CNRS), and Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)

Subjects
History, Gravitational wave detectors and experiments, [SDU.ASTR.CO]Sciences of the Universe [physics]/Astrophysics [astro-ph]/Cosmology and Extra-Galactic Astrophysics [astro-ph.CO], 04.80.Nn, 95.55.Ym, 07.60.Ly, [ PHYS.ASTR.CO ] Physics [physics]/Astrophysics [astro-ph]/Cosmology and Extra-Galactic Astrophysics [astro-ph.CO], computer.software_genre, 01 natural sciences, Education, [PHYS.ASTR.CO]Physics [physics]/Astrophysics [astro-ph]/Cosmology and Extra-Galactic Astrophysics [astro-ph.CO], Interferometers, Data acquisition, Settore FIS/05 - Astronomia e Astrofisica, 0103 physical sciences, 010303 astronomy & astrophysics, Physics, Data processing, Detection of gravitational waves, astrophysics, 010308 nuclear & particles physics, Gravitational wave, Event (computing), Settore FIS/01 - Fisica Sperimentale, gravitational waves, interferometers, Computer Science Applications, Interferometry, Noise, [ SDU.ASTR.CO ] Sciences of the Universe [physics]/Astrophysics [astro-ph]/Cosmology and Extra-Galactic Astrophysics [astro-ph.CO], Line (geometry), Data mining, User interface, computer
Abstract

International audience; The data collected by a gravitational wave interferometer are inevitably affected by instrumental artefacts and environmental disturbances. In particular, for continuous gravitational wave (CW) studies it is important to detect narrow-band disturbances (the so-called "noise lines") during science runs, and to help scientists to identify and possibly remove or mitigate their sources. The NoEMi (Noise Frequency Event Miner) framework exploits some of the algorithms implemented for the CW search to identify, on a daily basis, the frequency lines observed in the Virgo science data and in a subset of the environmental sensors, looking for lines that match in frequency. A line tracker algorithm reconstructs the lines over time, and stores them in a database, which is made accesible via a web interface. We describe the workflow of NoEMi, providing examples of its use for the investigation of noise lines in past Virgo runs (VSR2, VSR3) and in the most recent run (VSR4).

Published
2011
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31. Charcot-Marie-Tooth and pain: correlations with neurophysiological, clinical, and disability findings

Author

Padua, L, Cavallaro, T, Pareyson, D, Quattrone, A, Vita, Giuseppe, Schenone, A, Grandis, M., Benedetti, L., Caliandro, P., Pazzaglia, C., Irene, A., Mazza, O., Ferraro, D., Mignogna, T., Tonali, P., Fabrizi, G. M., Rizzuto, N., Laurà, M., Mazzeo, Anna, Majorana, G., Valentino, P., and Nisticò, R.

Subjects
Adult, Male, Quality of life, Charcot-Marie-Tooth, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Activities of daily living, Neurology, Charcot-Marie-Tooth pain, Multidimensional assessment, Pain, Dermatology, Disability Evaluation, Sex Factors, Physical medicine and rehabilitation, Charcot-Marie-Tooth Disease, Surveys and Questionnaires, Activities of Daily Living, medicine, Humans, Peripheral Nerves, Pain Measurement, Neuroradiology, business.industry, General Medicine, Middle Aged, Neurophysiology, nervous system diseases, Settore MED/26 - NEUROLOGIA, Psychiatry and Mental health, Bodily pain, Disease Progression, Physical therapy, Female, Neurology (clinical), Neurosurgery, business, Quality of Life, 2708, Psychiatry and Mental Health
Abstract

Pain is not considered a relevant symptom in Charcot-Marie-Tooth (CMT) patients and no studies have comprehensively assessed it. We performed a multidimensional assessment in 211 consecutive CMT patients to evaluate the clinical features, quality of life (QoL) and disability. For QoL we used the SF-36, which comprises one domain called "Bodily Pain" (BP), which is a generic measure of intensity of pain. Results showed that pain is a relevant symptom related to gender, CMT subtypes, clinical picture, disability, and mildly to neurophysiological impairment. In our study the importance of pain was an occasional finding. Because of the study design we are not able to ascertain if pain is primarily due to the neuropathy or if it is due to the muscoloskeletal deformities arising as a consequence of the neuropathy. Our study underlined that pain should be considered as a relevant symptom in CMT patients and further studies should be performed.

Published
2008

32. Natural history of CMT1A including QoL: a 2 year prospective study

Author

Padua, L, Pareyson, D, Aprile, I, Cavallaro, T, Quattrone, A, Rizzuto, N, Vita, Giuseppe, Tonali, P, Schenone, A, Grandis, M, Benedetti, L, Caliandro, P, Pazzaglia, C, Mignogna, T, Mangiola, F, Fabrizi, Gm, Laura`, M, Di Monda, T, Mazzeo, Anna, Majorana, G, Valentino, P, and Nistico`, R.

Published
2008

33. Irragionevolezza delle norme o opacità dell'interpretazione? La tutela dell'embrione alla luce della distinzione aristotelica fra atto e potenza

Author

Andretto, Luca, Arconzo, G., Bagni, S., Bonciani, E., Brunelli, G., Canale, G., Carrer, M., Casonato, C., Chiaramonte, L., D'Amico, G., DE BARI, F., Deffenu, A., DI COSIMO, G., DI GENIO, G., Faenza, F., Faralli, C., Ferraretti, A. P., Fioravanti, C., Franco, L., Galipo', G., Gemma, G., Isolani, L., Lanza, E., Lorenzetti, A., Lucchi, N., Majorana, G., Malfatti, E., Manetti, M., Pellizzone, I., Penasa, S., Pezzini, B., Pugiotto, A., Rossi, S., Rossini, G., Timiani, M., Tripodina, C., Trucco, L., Vaccari, G., and Veronesi, P.

Subjects
tutela, procreazione, potenza, fecondazione, embrione, legge 40, assistita, atto
Published
2008

36. A multicenter, randomized, double-blind, placebo-controlled trial of long-term ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL): the study protocol

Author

Pareyson, D, Schenone, A, Fabrizi, Gm, Santoro, L, Padua, L, Quattrone, A, Vita, Giuseppe, Gemignani, F, Visioli, F, Solari, A, Salsano, E., Scaioli, V., Ciano, C., Rimoldi, M., Lauria, G., Rizzetto, E., Camozzi, F., Grandis, M., Narciso, E., Nobbio, L., Benedetti, L., Rizzuto, N., Cavallaro, T., Bertolasi, L., Casano, A., Manganelli, F., Nolano, M., Pazzaglia, C., Valentino, P., Nistico’, R., Pirritano, D., Lucisano, A., Canino, M., Mazzeo, Anna, Aguennouz, M'Hammed, DI LEO, Rita, Girlanda, Paolo, Majorana, G., Ciranni, Annamaria, Lanzano, N., Brindani, F., Lettieri, C., and Bogani, P.

Published
2006

41. Il rilievo dell'original intent nell' interpretazione dell'art. 7 della Costituzione italiana

Author

Belfiore, G, Bruno, A, Carducci, M, Casamassima, V, Cavino, M, Chiaramonte, L, D'atena, A, Fortuna, T, Galipò, G, Majorana, G, Ninatti, S, Paterniti, F, Pesole, L, Tripodina, C, Giuffrè, F, Nicotra, IA, NINATTI, STEFANIA, Belfiore, G, Bruno, A, Carducci, M, Casamassima, V, Cavino, M, Chiaramonte, L, D'atena, A, Fortuna, T, Galipò, G, Majorana, G, Ninatti, S, Paterniti, F, Pesole, L, Tripodina, C, Giuffrè, F, Nicotra, IA, and NINATTI, STEFANIA

Published
2008

46. Head trauma in primary cranial dystonias: a multicentre case-control study.

Author

Martino D, Defazio G, Abbruzzese G, Girlanda P, Tinazzi M, Fabbrini G, Aniello MS, Avanzino L, Colosimo C, Majorana G, Trompetto C, Berardelli A, Martino, Davide, Defazio, Giovanni, Abbruzzese, Giovanni, Girlanda, Paolo, Tinazzi, Michele, Fabbrini, Giovanni, Aniello, Maria Stella, and Avanzino, Laura

Abstract

Background: The relationship between prior trauma and primary adult-onset dystonia is not well understood. Previous uncontrolled observations and exploratory case-control studies have yielded contradictory results.Objective: To analyse the association between cranial dystonia and prior head trauma.Methods: An ad hoc multicentre case-control study was performed using a semistructured interview to collect detailed information on the history of head trauma before disease onset in five Italian tertiary referral centres for movement disorders. The presence of a history of head trauma and of post-traumatic sequelae (loss of consciousness, bone fractures, scalp/facial wounds) before disease onset was recorded from 177 patients with primary adult-onset cranial dystonia and from 217 controls with primary hemifacial spasm matched by age strata and sex. Differences between groups were assessed by Mann-Whitney U test and Fisher's exact test, and the relationship between prior head trauma and case/control status was analysed by multivariate logistic regression models.Results: No association was found between vault/maxillofacial trauma and cranial dystonia. Most reported traumas occurred several years before disease onset. None of the main post-traumatic sequelae altered the chance of developing cranial dystonia compared with patients with primary hemifacial spasm, nor did head trauma modify the age at onset of cranial dystonia.Conclusions: These results do not support prior head trauma as a possible environmental factor modifying the risk of developing late-onset cranial dystonia. The lack of association may have pathogenetic and medical-forensic implications. [ABSTRACT FROM AUTHOR]

Published
2007

47. Does sex influence age at onset in cranial-cervical and upper limb dystonia?

Author

Defcizio, G., Abbruzzese, G., Girlanda, P., Vacca, L., Currà, A., Marchese, R., Martino, D., Masi, G., Majorana, G., Mazzella, L., Livrea, P., and Berardelli, A.

Subjects
DYSTONIA, HUMAN sexuality, AGE, EXTRAPYRAMIDAL disorders, MOVEMENT disorders, MUSCLE diseases
Abstract

The relation between age at dystonia onset and sex was investigated in 264 patients with cranial-cervical dystonia and 56 patients with upper limb dystonia. In cranial-cervical dystonia, women had a significantly greater age at the onset of dystonia than men. The association was independent of duration of disease and distance of referral, but was no longer detectable after adjustment for educational level. In upper limb dystonia, men and women did not differ for age at dystonia onset, duration of disease, education level, or distance of referral. A significant inverse association between age at the onset of dystonia and education was observed in both cranial-cervical dystonia and upper limb dystonia series. [ABSTRACT FROM AUTHOR]

Published
2003

48. Ascorbic acid in charcot-marie-tooth disease type 1A (CMTTRIAAL and CMT-TRAUK): A double-blind randomised trial

Author

Pareyson, D., Reilly, M. M., Schenone, A., Fabrizi, G. M., Cavallaro, T., Manganelli, L., Vita, G., Quattrone, A., Padua, L., Gemignani, F., Visioli, F., Laurà, M., Radice, D., Calabrese, D., Hughes, R. A. C., Solari, A., Salsano, C., Nanetti, L., Marelli, C., Scaioli, V., Ciano, C., Rimoldi, M., Lauria, G., Rizzetto, E., Camozzi, F., Narciso, E., Grandis, M., Monti-Bragadin, M., Nobbio, L., Casano, A., Bertolasi, L., Cabrini, I., Corrà, K., Rizzuto, N., Pisciotta, C., Maria Nolano, Mazzeo, A., Aguennouz, M., Di Leo, R., Majorana, G., Lanzano, N., Valenti, F., Valentino, P., Nisticò, R., Pirritano, D., Lucisano, A., Canino, M., Pazzaglia, C., Granata, G., Foschini, M., Brindani, F., Vitetta, F., Allegri, I., Bogani, P., Blake, J., Koltzenburg, M., Hutton, E., Lunn, M., Cavaletti, G., Galimberti, S., Ferrari, G., Santoro, L., Manganelli, F., and Sereda, M.

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