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51. 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

52. 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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54. 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

56. Propriospinal myoclonus with life threatening tonic spasms as paraneoplastic presentation of breast cancer [3]

Author

Salsano, E., Ciano, C., Romano, Silvia, Cornelio, F., Di Donate, S., and Pareyson, Davide

Subjects
Myoclonus, Spasm, Neuroscience (all), Paraneoplastic Syndromes, Breast Neoplasms, Skeletal, Middle Aged, Synaptic Transmission, Antibodies, Spinal Cord Diseases, Anti-Idiotypic, Neuropsychology and Physiological Psychology, ELAV Proteins, Psychiatry and Mental Health, Antibodies, Anti-Idiotypic, Diagnosis, Differential, Humans, Muscle Hypertonia, Muscle, Skeletal, Physical Stimulation, Diagnosis, Differential, Muscle
Published
2006

58. 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

63. Cortical myoclonus in childhood and juvenile onset Huntington's disease

Author

Rossi Sebastiano, D., Soliveri, P., Panzica, F., Moroni, I., Gellera, C., Gilioli, I., Nardocci, Nardo, Ciano, C., Albanese, Alberto, Franceschetti, S., Canafoglia, L., Nardocci N., Albanese A. (ORCID:0000-0002-5864-0006), Rossi Sebastiano, D., Soliveri, P., Panzica, F., Moroni, I., Gellera, C., Gilioli, I., Nardocci, Nardo, Ciano, C., Albanese, Alberto, Franceschetti, S., Canafoglia, L., Nardocci N., and Albanese A. (ORCID:0000-0002-5864-0006)

Abstract

Objective: Huntington's disease (HD) appearing before the age of 20 years gives rise to a distinct phenotype with respect to the classical adult-onset disease. Here we describe three patients with childhood or juvenile HD onset presenting with action myoclonus. Methods: We performed jerk-locked back-averaging (JLBA), EEG-EMG coherence and phase analysis, long-loop reflexes (LLRs) and somatosensory evoked potentials (SSEPs). In one patient, we also performed transcranial magnetic stimulation (TMS) using single and paired pulses. Results: In all patients, the EMG features revealed movement activated quasi-rhythmic repetitive jerks; the JLBA and EEG-EMG spectral and coherence profiles indicated a cortical generator of the myoclonus. All patients had enhanced LLRs during muscle contraction, while none showed giant SSEPs. The evaluation of intracortical inhibition by means of TMS revealed reduced inhibition at short and long interstimulus intervals. Conclusions: The rhythmic course of the action myoclonus and the characteristics of the LLRs suggest that myoclonus is due to a reverberant circuit involving the motor cortex, possibly because of an imbalance between excitatory and inhibitory cortical neuronal systems. Significance: Our findings suggest a similar cortical dysfunction in childhood and juvenile onset HD, which probably results from a specific circuitry impairment. © 2012 Elsevier Ltd.

Published
2012

64. A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome

Author

Marelli, C, Canafoglia, L, Zibordi, F, Ciano, C, Visani, E, Zorzi, G, Garavaglia, B, Barzaghi, C, Albanese, Alberto, Soliveri, P, Leone, M, Panzica, F, Scaioli, V, Pincherle, A, Nardocci, N, Franceschetti, Silvana, Albanese, Alberto (ORCID:0000-0002-5864-0006), Marelli, C, Canafoglia, L, Zibordi, F, Ciano, C, Visani, E, Zorzi, G, Garavaglia, B, Barzaghi, C, Albanese, Alberto, Soliveri, P, Leone, M, Panzica, F, Scaioli, V, Pincherle, A, Nardocci, N, Franceschetti, Silvana, and Albanese, Alberto (ORCID:0000-0002-5864-0006)

Abstract

Mutations in the epsilon-sarcoglycan (SGCE) gene have been associated with DYT11 myoclonus-dystonia syndrome (MDS). The aim of this study was to characterize myoclonus in 9 patients with DYT11-MDS presenting with predominant myoclonus and mild dystonia by means of neurophysiological techniques. Variously severe multifocal myoclonus occurred in all of the patients, and included short (mean 89.1 +/- 13.3 milliseconds) electromyographic bursts without any electroencephalographic correlate, sometimes presenting a pseudo-rhythmic course. Massive jerks could be evoked by sudden stimuli in 5 patients, showing a "startle-like" muscle spreading and latencies consistent with a brainstem origin. Somatosensory evoked potentials and long-loop reflexes were normal, as was silent period and long-term intracortical inhibition evaluated by means of transcranial magnetic stimulation; however, short-term intracortical inhibition revealed subtle impairment, and event-related synchronization (ERS) in the beta band was delayed. Blink reflex recovery was strongly enhanced. Myoclonus in DYT11-MDS seems to be generated at subcortical level, and possibly involves basal ganglia and brainstem circuitries. Cortical impairment may depend from subcortical dysfunction, but it can also have a role in influencing the myoclonic presentation. The wide distribution of the defective SCGE in DYT11-MDS may justify the involvement of different brain areas.

Published
2008

71. Effects of acetyl-L-carnitine on reaction times in patients with cerebrovascular insufficiency

Author

Arrigo, A., Casale, R., Michelangelo Buonocore, and Ciano, C.

Subjects
Male, Electroencephalography, Middle Aged, Cerebrovascular Disorders, Electrocardiography, Double-Blind Method, Memory, Carnitine, Reaction Time, Humans, Female, Acetylcarnitine, Psychomotor Performance, Aged
Abstract

A double-blind cross-over study was carried out on the clinical effectiveness of acetyl-L-carnitine on 12 elderly subjects undergoing rehabilitation for acute cerebral circulatory insufficiency compared with a placebo. Significant differences between the drug and placebo were found in memory, number and word tests and in the responses to simple stimuli and the performance of the maze test. There were no side-effects to the drug.

Published
1990

76. Influence of gender and pregnancy on CMT1A

Author

Pareyson, D, primary, Dell'Anna, E, additional, DiMonda, T, additional, Scaioli, V, additional, Ciano, C, additional, Sghirlanzoni, A, additional, Lauria, G, additional, Morbin, M, additional, Laura, M, additional, Solari, A, additional, and Taroni, F, additional

Published
2004
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81. RESPONSE TO IVIg TREATMENT IN CANOMAD

Author

Pareyson, D, primary, Allegri, I, additional, Ciano, C, additional, Scaioli, V, additional, Andreetta, F, additional, Morbin, M, additional, Lauria, G, additional, and Sghirlanzoni, A, additional

Published
2002
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85. Spasmodic dystonic laterocollis in familial cerebellar ataxia.

Author

Carella, F, Ciano, C, Pandolfo, Massimo, Giovannini, P., Girotti, F, Caraceni, T, Carella, F, Ciano, C, Pandolfo, Massimo, Giovannini, P., Girotti, F, and Caraceni, T

Abstract

The case of a woman affected by familial ataxia who developed marked spasmodic laterocollis is described. As this appears to be an uncommon association, it is worth reporting one more case., Case Reports, Comparative Study, Journal Article, info:eu-repo/semantics/published

Published
1994

87. Infantile neuroaxonal dystrophy

Author

Nardocci, N., primary, Zorzi, G., additional, Farina, L., additional, Binelli, S., additional, Scaioli, W., additional, Ciano, C., additional, Verga, L., additional, Angelini, L., additional, Savoiardo, M., additional, and Bugiani, O., additional

Published
1999
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88. Charcot-Marie-Tooth disease type 2 and P0 gene mutations

Author

Pareyson, D., primary, Sghirlanzoni, A., additional, Bolti, S., additional, Ciano, C., additional, Fallica, E., additional, Mora, M., additional, Taroni, F., additional, Marrosu, M. G., additional, Vaccargiu, S., additional, Marrosu, G., additional, Vannelli, A., additional, Cianchetti, C., additional, and Muntoni, F., additional

Published
1999
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98. A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome.

Author

Marelli C, Canafoglia L, Zibordi F, Ciano C, Visani E, Zorzi G, Garavaglia B, Barzaghi C, Albanese A, Soliveri P, Leone M, Panzica F, Scaioli V, Pincherle A, Nardocci N, and Franceschetti S

Abstract

Mutations in the epsilon-sarcoglycan (SGCE) gene have been associated with DYT11 myoclonus-dystonia syndrome (MDS). The aim of this study was to characterize myoclonus in 9 patients with DYT11-MDS presenting with predominant myoclonus and mild dystonia by means of neurophysiological techniques. Variously severe multifocal myoclonus occurred in all of the patients, and included short (mean 89.1 +/- 13.3 milliseconds) electromyographic bursts without any electroencephalographic correlate, sometimes presenting a pseudo-rhythmic course. Massive jerks could be evoked by sudden stimuli in 5 patients, showing a 'startle-like' muscle spreading and latencies consistent with a brainstem origin. Somatosensory evoked potentials and long-loop reflexes were normal, as was silent period and long-term intracortical inhibition evaluated by means of transcranial magnetic stimulation; however, short-term intracortical inhibition revealed subtle impairment, and event-related synchronization (ERS) in the beta band was delayed. Blink reflex recovery was strongly enhanced. Myoclonus in DYT11-MDS seems to be generated at subcortical level, and possibly involves basal ganglia and brainstem circuitries. Cortical impairment may depend from subcortical dysfunction, but it can also have a role in influencing the myoclonic presentation. The wide distribution of the defective SCGE in DYT11-MDS may justify the involvement of different brain areas. [ABSTRACT FROM AUTHOR]

Published
2008
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