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Dive into the research topics where C. Bruno is active.

Publication


Featured researches published by C. Bruno.


Neurology | 2007

Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy

Eugenio Mercuri; Enrico Bertini; Sonia Messina; A. Solari; Adele D'Amico; Carla Angelozzi; Roberta Battini; Angela Berardinelli; P. Boffi; C. Bruno; C. Cini; Francesca Colitto; Maria Kinali; Carlo Minetti; Tiziana Mongini; Lucia Morandi; Giovanni Neri; S. Orcesi; Marika Pane; Marco Pelliccioni; Antonella Pini; Francesco Danilo Tiziano; Marcello Villanova; Giuseppe Vita; Cristina Beate Brahe

Objective: To assess the efficacy of phenylbutyrate (PB) in patients with spinal muscular atrophy in a randomized, double-blind, placebo-controlled trial involving 10 Italian centers. Methods: One hundred seven children were assigned to receive PB (500 mg/kg/day) or matching placebo on an intermittent regimen (7 days on/7 days off) for 13 weeks. The Hammersmith functional motor scale (primary outcome measure), myometry, and forced vital capacity were assessed at baseline and at weeks 5 and 13. Results: Between January and September 2004, 107 patients aged 30 to 154 months were enrolled. PB was well tolerated, with only one child withdrawing because of adverse events. Mean improvement in functional score was 0.60 in the PB arm and 0.73 in placebo arm (p = 0.70). Changes in the secondary endpoints were also similar in the two study arms. Conclusions: Phenylbutyrate was not effective at the regimen, schedule, and duration used in this study.


Neurology | 2009

Congenital muscular dystrophies with defective glycosylation of dystroglycan A population study

Eugenio Mercuri; Salvatore Messina; C. Bruno; Marina Mora; Elena Pegoraro; Giacomo P. Comi; Anna D'amico; Chiara Aiello; Roberta Biancheri; Angela Berardinelli; P. Boffi; Denise Cassandrini; A Laverda; Maurizio Moggio; Laura Morandi; Isabella Moroni; Marika Pane; Raffaele Pezzani; Anna Pichiecchio; Antonella Pini; Carlo Minetti; T Mongini; E Mottarelli; Enzo Ricci; Antonello Ruggieri; S Saredi; C Scuderi; Alessandra Tessa; Antonio Toscano; Gaetano Tortorella

Background: Congenital muscular dystrophies (CMD) with reduced glycosylation of alpha-dystroglycan (α-DG) are a heterogeneous group of conditions associated with mutations in six genes encoding proven or putative glycosyltransferases. Objectives: The aim of the study was to establish the prevalence of mutations in the six genes in the Italian population and the spectrum of clinical and brain MRI findings. Methods: As part of a multicentric study involving all the tertiary neuromuscular centers in Italy, FKRP, POMT1, POMT2, POMGnT1, fukutin, and LARGE were screened in 81 patients with CMD and α-DG reduction on muscle biopsy (n = 76) or with a phenotype suggestive of α-dystroglycanopathy but in whom a muscle biopsy was not available for α-DG immunostaining (n = 5). Results: Homozygous and compound heterozygous mutations were detected in a total of 43/81 patients (53%), and included seven novel variants. Mutations in POMT1 were the most prevalent in our cohort (21%), followed by POMT2 (11%), POMGnT1 (10%), and FKRP (9%). One patient carried two heterozygous mutations in fukutin and one case harbored a new homozygous variant in LARGE. No clear-cut genotype-phenotype correlation could be observed with each gene, resulting in a wide spectrum of clinical phenotypes. The more severe phenotypes, however, appeared to be consistently associated with mutations predicted to result in a severe disruption of the respective genes. Conclusions: Our data broaden the clinical spectrum associated with mutations in glycosyltransferases and provide data on their prevalence in the Italian population.


Neurology | 2011

Functional changes in Duchenne muscular dystrophy A 12-month longitudinal cohort study

Elena Stacy Mazzone; Gessica Vasco; Mp Sormani; Yvan Torrente; Angela Berardinelli; S Messina; Adele D'Amico; Luca Doglio; L. Politano; Fabio Cavallaro; Silvia Frosini; Luca Bello; S Bonfiglio; E. Zucchini; R. De Sanctis; M Scutifero; Flaviana Bianco; Francesca Rossi; Maria Chiara Motta; Angela Sacco; Maria Benedetta Donati; Tiziana Mongini; Antonella Pini; Roberta Battini; Elena Pegoraro; Marika Pane; Serena Gasperini; Stefano C. Previtali; Sara Napolitano; Danilo Martinelli

Objective: The aim of the study was to assess different outcome measures in a cohort of ambulant boys with Duchenne muscular dystrophy (DMD) over 12 months in order to establish the spectrum of possible changes in relation to age and steroid treatment. Methods: The study is a longitudinal multicentric cohort study. A total of 106 ambulant patients with DMD were assessed using the 6-minute walk test (6MWT) and North Star Ambulatory Assessment (NSAA) at baseline and 12 months. Clinical data including age and steroid treatment were collected. Results: During the 12 months of the study, we observed a mean decline of 25.8 meters in the 6MWT with a SD of 74.3 meters. On NSAA, the mean decline was 2.2 points with a SD of 3.7. Not all the boys with DMD in our cohort showed a decline over the 12 months, with young boys showing some improvement in their 6MWT and NSAA scores up to the age of 7. NSAA and the 6MWT had the highest correlation (r = 0.52, p < 0.001). Conclusions: This study provides longitudinal data of NSAA and 6MWT over a 12-month period. These data can be useful when designing a clinical trial.


Neuromuscular Disorders | 2009

Reliability of the North Star Ambulatory Assessment in a multicentric setting

E. Mazzone; Sonia Messina; Gessica Vasco; M. Main; Michelle Eagle; Adele D’Amico; Luca Doglio; L. Politano; Filippo Cavallaro; Silvia Frosini; Luca Bello; Francesca Magri; Alice Corlatti; E. Zucchini; B. Brancalion; F. Rossi; M. Ferretti; M.G. Motta; M.R. Cecio; Angela Berardinelli; Paolo Alfieri; Tiziana Mongini; Antonella Pini; Guja Astrea; Roberta Battini; Giacomo P. Comi; Elena Pegoraro; Lucia Morandi; Marika Pane; Corrado Angelini

The aim of this study was to investigate the suitability of the North Star Ambulatory Assessment as a possible outcome measure in multicentric clinical trials. More specifically we wished to investigate the level of training needed for achieving a good interobserver reliability in a multicentric setting. The scale was specifically designed for ambulant children with Duchenne Muscular Dystrophy and includes 17 items that are relevant for this cohort. Thirteen Italian centers participated in the study. In the first phase of the study we provided two training videos and an example of the scale performed on a child. After the first session of training, all the 13 examiners were asked to send a video with an assessment performed in their centre and to score all the videos collected. There were no difficulties in performing the items and in obtaining adequate videos with a hand held camera but the results showed a poor interobserver reliability (<.5). After a second training session with review and discussion of the videos previously scored, the same examiners were asked to score three new videos. The results of this session had an excellent interobserver reliability (.995). The level of agreement was maintained even when the same videos were rescored after a month, showing a significant intra-observer reliability (.95). Our results suggest that the NSAA is a test that can be easily performed, completed in 10 min and can be used in a multicentric setting, providing that adequate training is administered.


Neurology | 2004

Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)

C. Bruno; O. P. van Diggelen; D. Cassandrini; M. Gimpelev; B. Giuffrè; Maria Alice Donati; P. Introvini; A. Alegria; Stefania Assereto; L. Morandi; M. Mora; E. Tonoli; S. Mascelli; M. Traverso; E. Pasquini; M. Bado; L. Vilarinho; G. van Noort; F. Mosca; Salvatore DiMauro; Federico Zara; Carlo Minetti

Background: Glycogen storage disease type IV (GSD-IV) is a clinically heterogeneous autosomal recessive disorder due to glycogen branching enzyme (GBE) deficiency and resulting in the accumulation of an amylopectin-like polysaccharide. The typical presentation is liver disease of childhood, progressing to lethal cirrhosis. The neuromuscular form of GSD-IV varies in onset (perinatal, congenital, juvenile, or adult) and severity. Objective: To identify the molecular bases of different neuromuscular forms of GSD-IV and to establish possible genotype/phenotype correlations. Methods: Eight patients with GBE deficiency had different neuromuscular presentations: three had fetal akinesia deformation sequence (FADS), three had congenital myopathy, one had juvenile myopathy, and one had combined myopathic and hepatic features. In all patients, the promoter and the entire coding region of the GBE gene at the RNA and genomic level were sequenced. Results: Nine novel mutations were identified, including nonsense, missense, deletion, insertion, and splice-junction mutations. The three cases with FADS were homozygous, whereas all other cases were compound heterozygotes. Conclusions: This study expands the spectrum of mutations in the GBE gene and confirms that the neuromuscular presentation of GSD-IV is clinically and genetically heterogeneous.


Neuromuscular Disorders | 2003

Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene

Gabriele Siciliano; Alessandra Tessa; S. Petrini; Michelangelo Mancuso; C. Bruno; G.S. Grieco; Alessandro Malandrini; L. DeFlorio; B. Martini; Antonio Federico; G. Nappi; Filippo M. Santorelli; Luigi Murri

The authors report on a family with dominantly inherited progressive external ophthalmoplegia and a diagnostic and statistical manual (fourth revised edition) diagnosis of bipolar psychiatric disorder in several members. Skeletal muscle biopsy from the proposita showed decreased cytochrome c oxidase staining, several ragged-red fibers, and multiple mtDNA deletions. The authors identified a missense mutation (leucine 98-->proline) in the adenine nucleotide translocator 1 gene. The presence of bipolar affective disorder expands the phenotype of adenine nucleotide translocator 1 allelic variants.


Neurology | 1998

Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy

A. L. Andreu; C. Bruno; S. Shanske; Alexander Shtilbans; Michio Hirano; Sindu Krishna; Lawrence J. Hayward; D. S. Systrom; Robert H. Brown; Salvatore DiMauro

A patient with progressive exercise intolerance, proximal weakness, and complex III deficiency in skeletal muscle had a missense mutation in the cytochrome b gene of mitochondrial DNA (G15762A). The mutation, which leads to the substitution of a highly conserved amino acid (G339E), was heteroplasmic (85%) in the patients muscle and was not present in 100 individuals of different ethnic backgrounds. These data strongly suggest that this molecular defect is the primary cause of the myopathy.


Neuromuscular Disorders | 2006

Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study

Eugenio Mercuri; Sonia Messina; Roberta Battini; Angela Berardinelli; P Boffi; R. Bono; C. Bruno; C Cini; Francesca Colitto; Anthony V. D'Amico; Carlo Minetti; Massimiliano Mirabella; Tiziana Mongini; Lucia Morandi; N Dlamini; S. Orcesi; Marco Pelliccioni; Marika Pane; Antonella Pini; Av Swan; M.V. Villanova; Giuseppe Vita; M. Main; Francesco Muntoni; Enrico Bertini

The aim of this study was to validate the Hammersmith functional motor scale for children with spinal muscular atrophy in a large cohort of 90 non-ambulant children with spinal muscular atrophy type 2 or 3. All had a baseline assessment (T0) and were reassessed either at 3 months (T1) (n = 66) or at 6 months (T2) (n = 24). Inter-observer reliability, tested on 13 children among 3 examiners, was > 95%. Of the 66 children examined after 3 months 4 had adverse effects in between assessments and were excluded from the analysis. Forty-two (68%) of the remaining 62 reassessed had no variation in scores between T0 and T1 and 13 (21%) were within +/- 1 point. 9 (37.5%) of the 24 children reassessed after 6 months had no variation in scores between T0 and T2 and another 9 (37.5%) had variations within +/- 1 point. Our study confirms previous observations of the reliability of the scale and helps to establish a baseline for assessing changes of functional ability over 3 and 6 month intervals. This information can be valuable in view of therapeutic trials.


Neurology | 2006

Expanding the clinical spectrum of POMT1 phenotype

Anna D'amico; Alessandra Tessa; C. Bruno; Stefania Petrini; Roberta Biancheri; Marika Pane; Marina Pedemonte; Enzo Ricci; A. Falace; Andrea Rossi; Eugenio Mercuri; Filippo M. Santorelli; Enrico Bertini

Mutations in POMT1 have been identified in Walker–Warburg syndrome and in patients with limb-girdle muscular dystrophy and mental retardation (LGMD2K). The authors report new POMT1 mutations in three unrelated children with severe motor impairment, leg hypertrophy, and mental retardation but without brain and ocular malformations. These patients are similar to LGMD2K but have earlier onset and more severe motor disability. The current findings expand the spectrum of POMT1-associated phenotypes.


Neurology | 2004

Clinical and molecular findings in patients with giant axonal neuropathy (GAN)

C. Bruno; Enrico Bertini; Antonio Federico; E. Tonoli; Maria Luisa Lispi; Denise Cassandrini; Marina Pedemonte; Filippo M. Santorelli; Mirella Filocamo; Maria Teresa Dotti; Angelo Schenone; Alessandro Malandrini; Carlo Minetti

Giant axonal neuropathy (GAN) is a rare autosomal recessive neurodegenerative disorder of early onset, clinically characterized by a progressive involvement of both peripheral and CNS. The diagnosis is based on the presence of characteristic giant axons, filled with neurofilaments, on nerve biopsy. Recently, the defective protein, gigaxonin, has been identified and different pathogenic mutations in the gigaxonin gene have been reported as the underlying genetic defect. Gigaxonin, a member of the BTB/kelch superfamily proteins, seems to play a crucial role in the cross talk between the intermediate filaments and the membrane network. The authors report clinical and molecular findings in five Italian patients with GAN. This study shows the allelic heterogeneity of GAN and expands the spectrum of mutations in the GAN gene. The frequent occurrence of private mutations stresses the importance of a complete gene analysis.

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Enrico Bertini

Boston Children's Hospital

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Marika Pane

The Catholic University of America

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Carlo Minetti

Istituto Giannina Gaslini

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