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Start Over Author "Bruno, Claudio" Journal journal of neurology
12 results on '"Bruno, Claudio"'

2. Genetic modifiers of upper limb function in Duchenne muscular dystrophy.

Author

Sabbatini, Daniele, Fusto, Aurora, Vianello, Sara, Villa, Matteo, Janik, Joanna, DAngelo, Grazia, Diella, Eleonora, Magri, Francesca, Comi, Giacomo, Panicucci, Chiara, Bruno, Claudio, DAmico, Adele, Bertini, Enrico, Astrea, Guja, Battini, Roberta, Politano, Luisa, Masson, Riccardo, Baranello, Giovanni, Previtali, Stefano, Messina, Sonia, Vita, Gianluca, Berardinelli, Angela, Mongini, Tiziana, Pini, Antonella, Pane, Marika, Mercuri, Eugenio, Hoffman, Eric, Morgenroth, Lauren, Gordish-Dressman, Heather, Duong, Tina, Bello, Luca, Pegoraro, Elena, and McDonald, Craig

Subjects
CD40, Duchenne muscular dystrophy, Genetic modifiers, SPP1–osteopontin, Upper limb function, Actinin, Cohort Studies, Genotype, Humans, Muscular Dystrophy, Duchenne, Quality of Life, Upper Extremity
Abstract

Genetic modifiers of Duchenne muscular dystrophy (DMD) are variants located in genes different from the disease-causing gene DMD, but associated with differences in disease onset, progression, or response to treatment. Modifiers described so far have been tested mainly for associations with ambulatory function, while their effect on upper limb function, which is especially relevant for quality of life and independence in non-ambulatory patients, is unknown. We tested genotypes at several known modifier loci (SPP1, LTBP4, CD40, ACTN3) for association with Performance Upper Limb version 1.2 score in an Italian multicenter cohort, and with Brooke scale score in the Cooperative International Neuromuscular Group Duchenne Natural History Study (CINRG-DNHS), using generalized estimating equation (GEE) models of longitudinally collected data, with age and glucocorticoid treatment as covariates. CD40 rs1883832, previously linked to earlier loss of ambulation, emerged as a modifier of upper limb function, negatively affecting shoulder and distal domains of PUL (p = 0.023 and 0.018, respectively) in the Italian cohort, as well as of Brooke score (p = 0.018) in the CINRG-DNHS. These findings will be useful for the design and interpretation of clinical trials in DMD, especially for non-ambulatory populations.

Published
2022

4. Muscle MRI in neutral lipid storage disease (NLSD)

Author

Garibaldi, Matteo, Tasca, Giorgio, Diaz-Manera, Jordi, Ottaviani, Pierfancesco, Laschena, Francesco, Pantoli, Donatella, Gerevini, Simonetta, Fiorillo, Chiara, Maggi, Lorenzo, Tasca, Elisabetta, D’Amico, Adele, Musumeci, Olimpia, Toscano, Antonio, Bruno, Claudio, Massa, Roberto, Angelini, Corrado, Bertini, Enrico, Antonini, Giovanni, and Pennisi, Elena Maria

Published
2017
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5. Erratum to: Muscle MRI in neutral lipid storage disease (NLSD)

Author

Garibaldi, Matteo, Tasca, Giorgio, Diaz-Manera, Jordi, Ottaviani, Pierfancesco, Laschena, Francesco, Pantoli, Donatella, Gerevini, Simonetta, Fiorillo, Chiara, Maggi, Lorenzo, Tasca, Elisabetta, D’Amico, Adele, Musumeci, Olimpia, Toscano, Antonio, Bruno, Claudio, Massa, Roberto, Angelini, Corrado, Bertini, Enrico, Antonini, Giovanni, and Pennisi, Elena Maria

Published
2017
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6. Muscle MRI in neutral lipid storage disease (NLSD)

Author

Garibaldi, Matteo, Tasca, Giorgio, Diaz-Manera, Jordi, Ottaviani, Pierfancesco, Laschena, Francesco, Pantoli, Donatella, Gerevini, Simonetta, Fiorillo, Chiara, Maggi, Lorenzo, Tasca, Elisabetta, D'Amico, Adele, Musumeci, Olimpia, Toscano, Antonio, Bruno, Claudio, Massa, Roberto, Angelini, Corrado, Bertini, Enrico, Antonini, Giovanni, Pennisi, Elena Maria, and Universitat Autònoma de Barcelona

Subjects
0301 basic medicine, Male, Neurology, Lipid storage disease, Severity of Illness Index, Cohort Studies, 0302 clinical medicine, Lipid droplet, Original Communication, biology, Ichthyosis, Gluteus minimus, Anatomy, Middle Aged, Magnetic Resonance Imaging, ABHD5, medicine.anatomical_structure, Adipose Tissue, Italy, Lower Extremity, Muscle MRI, NLSD, PNPLA2, Neurology (clinical), Female, medicine.symptom, Erratum, Adult, medicine.medical_specialty, Adolescent, lipid storage disease, muscle MRI, Settore MED/26, Lipid Metabolism, Inborn Errors, Upper Extremity, 03 medical and health sciences, Muscular Diseases, medicine, Humans, Myopathy, Muscle, Skeletal, Aged, Skeletal muscle, Lipid metabolism, Ichthyosiform Erythroderma, Congenital, biology.organism_classification, medicine.disease, Neutral lipid storage disease, 030104 developmental biology, Tomography, X-Ray Computed, 030217 neurology & neurosurgery
Abstract

Neutral lipid storage disease (NLSD) is a rare inherited disorder of lipid metabolism resulting in lipid droplets accumulation in different tissues. Skeletal muscle could be affected in both two different form of disease: NLSD with myopathy (NLSD-M) and NLSD with ichthyosis (NLSD-I). We present the muscle imaging data of 12 patients from the Italian Network for NLSD: ten patients presenting NLSD-M and two patients with NLSD-I. In NLSD-M gluteus minimus, semimembranosus, soleus and gastrocnemius medialis in the lower limbs and infraspinatus in the upper limbs were the most affected muscles. Gracilis, sartorius, subscapularis, pectoralis, triceps brachii and sternocleidomastoid were spared. Muscle involvement was not homogenous and characteristic “patchy” replacement was observed in at least one muscle in all the patients. Half of the patients showed one or more STIR positive muscles. In both NLSD-I cases muscle involvement was not observed by T1-TSE sequences, but one of them showed positive STIR images in more than one muscle in the leg. Our data provides evidence that muscle imaging can identify characteristic alterations in NLSD-M, characterized by a specific pattern of muscle involvement with “patchy” areas of fatty replacement. Larger cohorts are needed to assess if a distinct pattern of muscle involvement exists also for NLSD-I. Electronic supplementary material The online version of this article (doi:10.1007/s00415-017-8498-8) contains supplementary material, which is available to authorized users.

Published
2016

7. Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion

Author

Mancuso, Michelangelo, primary, Orsucci, Daniele, additional, Angelini, Corrado, additional, Bertini, Enrico, additional, Carelli, Valerio, additional, Comi, Giacomo Pietro, additional, Donati, Maria Alice, additional, Federico, Antonio, additional, Minetti, Carlo, additional, Moggio, Maurizio, additional, Mongini, Tiziana, additional, Santorelli, Filippo Maria, additional, Servidei, Serenella, additional, Tonin, Paola, additional, Toscano, Antonio, additional, Bruno, Claudio, additional, Bello, Luca, additional, Ienco, Elena Caldarazzo, additional, Cardaioli, Elena, additional, Catteruccia, Michela, additional, Da Pozzo, Paola, additional, Filosto, Massimiliano, additional, Lamperti, Costanza, additional, Moroni, Isabella, additional, Musumeci, Olimpia, additional, Pegoraro, Elena, additional, Ronchi, Dario, additional, Sauchelli, Donato, additional, Scarpelli, Mauro, additional, Sciacco, Monica, additional, Valentino, Maria Lucia, additional, Vercelli, Liliana, additional, Zeviani, Massimo, additional, and Siciliano, Gabriele, additional

Published
2015
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8. Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort

Author

Fattori, Fabiana, primary, Maggi, Lorenzo, additional, Bruno, Claudio, additional, Cassandrini, Denise, additional, Codemo, Valentina, additional, Catteruccia, Michela, additional, Tasca, Giorgio, additional, Berardinelli, Angela, additional, Magri, Francesca, additional, Pane, Marika, additional, Rubegni, Anna, additional, Santoro, Lucio, additional, Ruggiero, Lucia, additional, Fiorini, Patrizio, additional, Pini, Antonella, additional, Mongini, Tiziana, additional, Messina, Sonia, additional, Brisca, Giacomo, additional, Colombo, Irene, additional, Astrea, Guja, additional, Fiorillo, Chiara, additional, Bragato, Cinzia, additional, Moroni, Isabella, additional, Pegoraro, Elena, additional, D’Apice, Maria Rosaria, additional, Alfei, Enrico, additional, Mora, Marina, additional, Morandi, Lucia, additional, Donati, Alice, additional, Evilä, Anni, additional, Vihola, Anna, additional, Udd, Bjarne, additional, Bernansconi, Pia, additional, Mercuri, Eugenio, additional, Santorelli, Filippo Maria, additional, Bertini, Enrico, additional, and D’Amico, Adele, additional

Published
2015
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9. Redefining phenotypes associated with mitochondrial DNA single deletion

Author

Mancuso, Michelangelo, primary, Orsucci, Daniele, additional, Angelini, Corrado, additional, Bertini, Enrico, additional, Carelli, Valerio, additional, Comi, Giacomo Pietro, additional, Donati, Maria Alice, additional, Federico, Antonio, additional, Minetti, Carlo, additional, Moggio, Maurizio, additional, Mongini, Tiziana, additional, Santorelli, Filippo Maria, additional, Servidei, Serenella, additional, Tonin, Paola, additional, Toscano, Antonio, additional, Bruno, Claudio, additional, Bello, Luca, additional, Caldarazzo Ienco, Elena, additional, Cardaioli, Elena, additional, Catteruccia, Michela, additional, Da Pozzo, Paola, additional, Filosto, Massimiliano, additional, Lamperti, Costanza, additional, Moroni, Isabella, additional, Musumeci, Olimpia, additional, Pegoraro, Elena, additional, Ronchi, Dario, additional, Sauchelli, Donato, additional, Scarpelli, Mauro, additional, Sciacco, Monica, additional, Valentino, Maria Lucia, additional, Vercelli, Liliana, additional, Zeviani, Massimo, additional, and Siciliano, Gabriele, additional

Published
2015
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10. The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

Author

Mancuso, Michelangelo, primary, Orsucci, Daniele, additional, Angelini, Corrado, additional, Bertini, Enrico, additional, Carelli, Valerio, additional, Comi, Giacomo Pietro, additional, Donati, Alice, additional, Minetti, Carlo, additional, Moggio, Maurizio, additional, Mongini, Tiziana, additional, Servidei, Serenella, additional, Tonin, Paola, additional, Toscano, Antonio, additional, Uziel, Graziella, additional, Bruno, Claudio, additional, Ienco, Elena Caldarazzo, additional, Filosto, Massimiliano, additional, Lamperti, Costanza, additional, Catteruccia, Michela, additional, Moroni, Isabella, additional, Musumeci, Olimpia, additional, Pegoraro, Elena, additional, Ronchi, Dario, additional, Santorelli, Filippo Maria, additional, Sauchelli, Donato, additional, Scarpelli, Mauro, additional, Sciacco, Monica, additional, Valentino, Maria Lucia, additional, Vercelli, Liliana, additional, Zeviani, Massimo, additional, and Siciliano, Gabriele, additional

Published
2013
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11. The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

Author

Mancuso, Michelangelo, Orsucci, Daniele, Angelini, Corrado, Bertini, Enrico, Carelli, Valerio, Comi, Giacomo, Donati, Alice, Minetti, Carlo, Moggio, Maurizio, Mongini, Tiziana, Servidei, Serenella, Tonin, Paola, Toscano, Antonio, Uziel, Graziella, Bruno, Claudio, Ienco, Elena, Filosto, Massimiliano, Lamperti, Costanza, Catteruccia, Michela, and Moroni, Isabella

Subjects
MITOCHONDRIAL encephalomyopathies, LACTIC acidosis, STROKE, MITOCHONDRIAL DNA, PHENOTYPES
Abstract

The m.3243A>G 'MELAS' (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) mutation is one of the most common point mutations of the mitochondrial DNA, but its phenotypic variability is incompletely understood. The aim of this study was to revise the phenotypic spectrum associated with the mitochondrial m.3243A>G mutation in 126 Italian carriers of the mutation, by a retrospective, database-based study ('Nation-wide Italian Collaborative Network of Mitochondrial Diseases'). Our results confirmed the high clinical heterogeneity of the m.3243A>G mutation. Hearing loss and diabetes were the most frequent clinical features, followed by stroke-like episodes. 'MIDD' (maternally-inherited diabetes and deafness) and 'PEO' (progressive external ophthalmoplegia) are nosographic terms without any real prognostic value, because these patients may be even more prone to the development of multisystem complications such as stroke-like episodes and heart involvement. The 'MELAS' acronym is convincing and useful to denote patients with histological, biochemical and/or molecular evidence of mitochondrial disease who experience stroke-like episodes. Of note, we observed for the first time that male gender could represent a risk factor for the development of stroke-like episodes in Italian m.3243A>G carriers. Gender effect is not a new concept in mitochondrial medicine, but it has never been observed in MELAS. A better elucidation of the complex network linking mitochondrial dysfunction, apoptosis, estrogen effects and stroke-like episodes may hold therapeutic promises. [ABSTRACT FROM AUTHOR]

Published
2014
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12. Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations

Author

Mirella Filocamo, Giuseppe De Michele, Chiara Fiorillo, Teresa De Toni, Silvio Peluso, Susanna Lualdi, Claudio Bruno, Mariasavina Severino, Andrea Rossi, Pasquale Striano, Severino, Mariasavina, Lualdi, Susanna, Fiorillo, Chiara, Striano, Pasquale, De Toni, Teresa, Peluso, Silvio, De Michele, Giuseppe, Rossi, Andrea, Filocamo, Mirella, and Bruno, Claudio

Subjects
Male, 0301 basic medicine, Pathology, Kir4.1, Astrocytopathy, Brain MRI, Channelopathy, Diffusion-weighted imaging, EAST syndrome, Frameshift variants, Intramyelinic edema, KCNJ10, SeSAME syndrome, Whole exome sequencing, Neurology, Neurology (clinical), Epilepsy, Frameshift variant, 0302 clinical medicine, Medicine, Frameshift Mutation, biology, Brain, White Matter, medicine.anatomical_structure, Spinal Cord, Disease Progression, Cerebellar atrophy, Brainstem, medicine.symptom, Adult, medicine.medical_specialty, Ataxia, Hearing Loss, Sensorineural, White matter, Young Adult, 03 medical and health sciences, Seizures, Intellectual Disability, Humans, Potassium Channels, Inwardly Rectifying, business.industry, Spinal cord, medicine.disease, 030104 developmental biology, biology.protein, Atrophy, business, 030217 neurology & neurosurgery
Abstract

Epilepsy, ataxia, sensorineural deafness, and tubulopathy (EAST syndrome) is a rare channelopathy due to KCNJ10 mutations. So far, only mild cerebellar hypoplasia and/or dentate nuclei abnormalities have been reported as major neuroimaging findings in these patients. We analyzed the clinical and brain MRI features of two unrelated patients (aged 27 and 23 years) with EAST syndrome carrying novel homozygous frameshift mutations (p.Asn232Glnfs*14and p.Gly275Valfs*7) in KCNJ10, detected by whole exome sequencing. Brain MRI examinations at 8 years in Patient 1 and at 13 years in Patient 2 revealed a peculiar brain and spinal cord involvement characterized by restricted diffusion of globi pallidi, thalami, brainstem, dentate nuclei, and cervical spinal cord in keeping with intramyelinic edema. The follow-up studies, performed, respectively, after 19 and 10 years, showed mild cerebellar atrophy and slight progression of the brain and spinal cord T2 signal abnormalities with increase of the restricted diffusion in the affected regions. The present cases harboring novel homozygous frameshift mutations in KCNJ10 expand the spectrum of brain abnormalities in EAST syndrome, including mild cerebellar atrophy and intramyelinic edema, resulting from abnormal function of the Kir4.1 inwardly rectifying potassium channel at the astrocyte endfeet, with disruption of water-ion homeostasis.

Published
2018

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