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Pane M.,Catholic University | Mazzone E.S.,Catholic University | Sormani M.P.,University of Genoa | Messina S.,Messina University | And 40 more authors.
PLoS ONE | Year: 2014

Objective: In the last few years some of the therapeutical approaches for Duchenne muscular dystrophy (DMD) are specifically targeting distinct groups of mutations, such as deletions eligible for skipping of individual exons. The aim of this observational study was to establish whether patients with distinct groups of mutations have different profiles of changes on the 6 minute walk test (6MWT) over a 12 month period. Methods: The 6MWT was performed in 191 ambulant DMD boys at baseline and 12 months later. The results were analysed using a test for heterogeneity in order to establish possible differences among different types of mutations (deletions, duplications, point mutations) and among subgroups of deletions eligible to skip individual exons. Results: At baseline the 6MWD ranged between 180 and 560,80 metres (mean 378,06, SD 74,13). The 12 month changes ranged between -325 and 175 (mean -10.8 meters, SD 69.2). Although boys with duplications had better results than those with the other types of mutations, the difference was not significant. Similarly, boys eligible for skipping of the exon 44 had better baseline results and less drastic changes than those eligible for skipping exon 45 or 53, but the difference was not significant. Conclusions: even if there are some differences among subgroups, the mean 12 month changes in each subgroup were all within a narrow Range: from the mean of the whole DMD cohort. This information will be of help at the time of designing clinical trials with small numbers of eligible patients. © 2014 Pane et al. Source

Mazzone E.S.,Catholic University | Coratti G.,Catholic University | Sormani M.P.,University of Genoa | Messina S.,Messina University | And 35 more authors.
PLoS ONE | Year: 2016

Background: The role of timed items, and more specifically, of the time to rise from the floor, has been reported as an early prognostic factor for disease progression and loss of ambulation. The aim of our study was to investigate the possible effect of the time to rise from the floor test on the changes observed on the 6MWT over 12 months in a cohort of ambulant Duchenne boys. Subjects and methods: A total of 487 12-month data points were collected from 215 ambulant Duchenne boys. The age ranged between 5.0 and 20.0 years (mean 8.48 ±2.48 DS). Results: The results of the time to rise from the floor at baseline ranged from 1.2 to 29.4 seconds in the boys who could perform the test. 49 patients were unable to perform the test at baseline and 87 at 12 month The 6MWT values ranged from 82 to 567 meters at baseline. 3 patients lost the ability to perform the 6mwt at 12 months. The correlation between time to rise from the floor and 6MWT at baseline was high (r = 0.6, p<0.01). Conclusions: Both time to rise from the floor and baseline 6MWT were relevant for predicting 6MWT changes in the group above the age of 7 years, with no interaction between the two measures, as the impact of time to rise from the floor on 6MWT change was similar in the patients below and above 350 m. Our results suggest that, time to rise from the floor can be considered an additional important prognostic factor of 12 month changes on the 6MWT and, more generally, of disease progression. © 2016 Mazzone et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Source

Brugnoni R.,Laboratory NBS Biotech | Maggi L.,Fondazione Istituto Neurologico Carlo Besta | Canioni E.,Fondazione Istituto Neurologico Carlo Besta | Moroni I.,Fondazione Istituto Neurologico Carlo Besta | And 6 more authors.
Journal of Neurology | Year: 2010

Congenital myasthenic syndromes are rare genetic disorders compromising neuromuscular transmission. The defects are mainly mutations in the muscle acetylcholine receptor, or associated proteins rapsyn and Dok-7. We analyzed three unrelated Italian patients with typical clinical features of congenital myasthenic syndrome, who all benefitted from cholinesterase inhibitors. We found five mutations: a previously unreported homozygous αG378D mutation in the CHRNA1 gene, a previously unreported heterozygous εY8X mutation associated with a known heterozygous εM292del deletion in the CHRNE gene, and the common heterozygous N88K mutation associated with a previously unreported heterozygous IVS1 + 2T > G splice site mutation in the RAPSN gene. All three patients had two mutant alleles; parents or offspring with a single mutated allele were asymptomatic, thus all mutations exerted their effects recessively. The previously unreported mutations are likely to reduce the number of AChRs at the motor endplate, although the αG378D mutation might produce a mild fast channel syndrome. The αG378D mutation was recessive, but recessive CHRNA1 mutations have rarely been reported previously, so studies on the effect of this mutation at the cellular level would be of interest. © 2010 Springer-Verlag. Source

Baranello G.,Developmental Neurology Unit | Alfei E.,Developmental Neurology Unit | Martinelli D.,Bambino Gesu Childrens Hospital | Rizzetto M.,Unit of Genetics of Neurodegenerative and Metabolic Diseases | And 4 more authors.
Pediatric Neurology | Year: 2014

Background Hyperargininemia due to mutations in ARG1 gene is an autosomal recessive inborn error of metabolism caused by a defect in the final step of the urea cycle. Common clinical presentation is a variable association of progressive spastic paraparesis, epilepsy, and cognitive deficits. Methods We describe the clinical history of an Italian child presenting progressive spastic paraparesis, carrying a new homozygous missense mutation in the ARG1 gene. A detailed clinical, biochemical, and neurophysiological follow-up after 7 months of sodium benzoate therapy is reported. Results Laboratory findings, gait abnormalities, spastic paraparesis, and electroencephalographic and neurophysiological abnormalities remained quite stable over the follow-up. Conversely, a mild cognitive deterioration has been detected by means of the neuropsychologic assessment. Conclusions Further longitudinal studies by means of longer follow-up and using clinical, biochemical, radiological, and neurophysiological assessments are needed in such patients to describe natural history and monitor the effects of treatments. © 2014 Elsevier Inc. All rights reserved. Source

Pagliarini E.,University of Milan Bicocca | Guasti M.T.,University of Milan Bicocca | Toneatto C.,University of Milan Bicocca | Granocchio E.,Developmental Neurology Unit | And 4 more authors.
Human Movement Science | Year: 2015

In this study, we sought to demonstrate that deficits in a specific motor activity, handwriting, are associated to Developmental Dyslexia. The linguistic and writing performance of children with Developmental Dyslexia, with and without handwriting problems (dysgraphia), were compared to that of children with Typical Development. The quantitative kinematic variables of handwriting were collected by means of a digitizing tablet. The results showed that all children with Developmental Dyslexia wrote more slowly than those with Typical Development. Contrary to typically developing children, they also varied more in the time taken to write the individual letters of a word and failed to comply with the principles of isochrony and homothety. Moreover, a series of correlations was found among reading, language measures and writing measures suggesting that the two abilities may be linked. We propose that the link between handwriting and reading/language deficits is mediated by rhythm, as both reading (which is grounded on language) and handwriting are ruled by principles of rhythmic organization. © 2015 Elsevier B.V. Source

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