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Your search keyword '"Laurà, Matilde"' showing total 8 results
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8 results on '"Laurà, Matilde"'

1. Mutations in alpha‐B‐crystallin cause autosomal dominant axonal Charcot–Marie–Tooth disease with congenital cataracts

Author

Cortese, Andrea, primary, Currò, Riccardo, additional, Ronco, Riccardo, additional, Blake, Julian, additional, Rossor, Alex M., additional, Bugiardini, Enrico, additional, Laurà, Matilde, additional, Warner, Tom, additional, Yousry, Tarek, additional, Poh, Roy, additional, Polke, James, additional, Rebelo, Adriana, additional, Dohrn, Maike F., additional, Saporta, Mario, additional, Houlden, Henry, additional, Zuchner, Stephan, additional, and Reilly, Mary M., additional

Published
2023
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4. A multicenter retrospective study of charcot‐marie‐tooth disease type 4B (CMT4B) associated with mutations in myotubularin‐related proteins (MTMRs)

Author

Pareyson, Davide, primary, Stojkovic, Tanya, additional, Reilly, Mary M., additional, Leonard‐Louis, Sarah, additional, Laurà, Matilde, additional, Blake, Julian, additional, Parman, Yesim, additional, Battaloglu, Esra, additional, Tazir, Meriem, additional, Bellatache, Mounia, additional, Bonello‐Palot, Nathalie, additional, Lévy, Nicolas, additional, Sacconi, Sabrina, additional, Guimarães‐Costa, Raquel, additional, Attarian, Sharham, additional, Latour, Philippe, additional, Solé, Guilhem, additional, Megarbane, André, additional, Horvath, Rita, additional, Ricci, Giulia, additional, Choi, Byung‐Ok, additional, Schenone, Angelo, additional, Gemelli, Chiara, additional, Geroldi, Alessandro, additional, Sabatelli, Mario, additional, Luigetti, Marco, additional, Santoro, Lucio, additional, Manganelli, Fiore, additional, Quattrone, Aldo, additional, Valentino, Paola, additional, Murakami, Tatsufumi, additional, Scherer, Steven S., additional, Dankwa, Lois, additional, Shy, Michael E., additional, Bacon, Chelsea J., additional, Herrmann, David N., additional, Zambon, Alberto, additional, Tramacere, Irene, additional, Pisciotta, Chiara, additional, Magri, Stefania, additional, Previtali, Stefano C., additional, and Bolino, Alessandra, additional

Published
2019
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7. A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)

Author

Pareyson, Davide, Stojkovic, Tanya, Reilly, Mary M, Leonard-Louis, Sarah, Laurà, Matilde, Blake, Julian, Parman, Yesim, Battaloglu, Esra, Tazir, Meriem, Bellatache, Mounia, Bonello-Palot, Nathalie, Lévy, Nicolas, Sacconi, Sabrina, Guimarães-Costa, Raquel, Attarian, Sharham, Latour, Philippe, Solé, Guilhem, Megarbane, André, Horvath, Rita, Ricci, Giulia, Choi, Byung-Ok, Schenone, Angelo, Gemelli, Chiara, Geroldi, Alessandro, Sabatelli, Mario, Luigetti, Marco, Santoro, Lucio, Manganelli, Fiore, Quattrone, Aldo, Valentino, Paola, Murakami, Tatsufumi, Scherer, Steven S, Dankwa, Lois, Shy, Michael E, Bacon, Chelsea J, Herrmann, David N, Zambon, Alberto, Tramacere, Irene, Pisciotta, Chiara, Magri, Stefania, Previtali, Stefano C, and Bolino, Alessandra

Subjects
Adult, Male, Adolescent, Middle Aged, Protein Tyrosine Phosphatases, Non-Receptor, 3. Good health, Young Adult, Charcot-Marie-Tooth Disease, Child, Preschool, Mutation, Humans, Female, Child, Retrospective Studies
Abstract

OBJECTIVE: Charcot-Marie-Tooth (CMT) disease 4B1 and 4B2 (CMT4B1/B2) are characterized by recessive inheritance, early onset, severe course, slowed nerve conduction, and myelin outfoldings. CMT4B3 shows a more heterogeneous phenotype. All are associated with myotubularin-related protein (MTMR) mutations. We conducted a multicenter, retrospective study to better characterize CMT4B. METHODS: We collected clinical and genetic data from CMT4B subjects in 18 centers using a predefined minimal data set including Medical Research Council (MRC) scores of nine muscle pairs and CMT Neuropathy Score. RESULTS: There were 50 patients, 21 of whom never reported before, carrying 44 mutations, of which 21 were novel and six representing novel disease associations of known rare variants. CMT4B1 patients had significantly more-severe disease than CMT4B2, with earlier onset, more-frequent motor milestones delay, wheelchair use, and respiratory involvement as well as worse MRC scores and motor CMT Examination Score components despite younger age at examination. Vocal cord involvement was common in both subtypes, whereas glaucoma occurred in CMT4B2 only. Nerve conduction velocities were similarly slowed in both subtypes. Regression analyses showed that disease severity is significantly associated with age in CMT4B1. Slopes are steeper for CMT4B1, indicating faster disease progression. Almost none of the mutations in the MTMR2 and MTMR13 genes, responsible for CMT4B1 and B2, respectively, influence the correlation between disease severity and age, in agreement with the hypothesis of a complete loss of function of MTMR2/13 proteins for such mutations. INTERPRETATION: This is the largest CMT4B series ever reported, demonstrating that CMT4B1 is significantly more severe than CMT4B2, and allowing an estimate of prognosis. ANN NEUROL 2019.

8. Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts.

Author

Cortese A, Currò R, Ronco R, Blake J, Rossor AM, Bugiardini E, Laurà M, Warner T, Yousry T, Poh R, Polke J, Rebelo A, Dohrn MF, Saporta M, Houlden H, Zuchner S, and Reilly MM

Subjects
Humans, Mutation genetics, Genetic Testing, Phenotype, Pedigree, Charcot-Marie-Tooth Disease complications, Charcot-Marie-Tooth Disease genetics, Charcot-Marie-Tooth Disease diagnosis, Crystallins genetics, Cataract genetics
Abstract

Background and Purpose: Mutations in the alpha-B-crystallin (CRYAB) gene have initially been associated with myofibrillar myopathy, dilated cardiomyopathy and cataracts. For the first time, peripheral neuropathy is reported here as a novel phenotype associated with CRYAB., Methods: Whole-exome sequencing was performed in two unrelated families with genetically unsolved axonal Charcot-Marie-Tooth disease (CMT2), assessing clinical, neurophysiological and radiological features., Results: The pathogenic CRYAB variant c.358A>G;p.Arg120Gly was segregated in all affected patients from two unrelated families. The disease presented as late onset CMT2 (onset over 40 years) with distal sensory and motor impairment and congenital cataracts. Muscle involvement was probably associated in cases showing mild axial and diaphragmatic weakness. In all cases, nerve conduction studies demonstrated the presence of an axonal sensorimotor neuropathy along with chronic neurogenic changes on needle examination., Discussion: In cases with late onset autosomal dominant CMT2 and congenital cataracts, it is recommended that CRYAB is considered for genetic testing. The identification of CRYAB mutations causing CMT2 further supports a continuous spectrum of expressivity, from myopathic to neuropathic and mixed forms, of a growing number of genes involved in protein degradation and chaperone-assisted autophagy., (© 2023 The Authors. European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology.)

Published
2024
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