Neurofibromatosis type 1 and infantile spasms. (Articolo in rivista)

Type
Label
  • Neurofibromatosis type 1 and infantile spasms. (Articolo in rivista) (literal)
Anno
  • 2009-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1007/s00381-008-0706-5 (literal)
Alternative label
  • Ruggieri M, Iannetti P, Clementi M, Polizzi A, Incorpora G, Spalice A, Pavone P, Praticò AD, Elia M, Gabriele AL, Tenconi R, Pavone L. (2009)
    Neurofibromatosis type 1 and infantile spasms.
    in Child's nervous system (Print)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Ruggieri M, Iannetti P, Clementi M, Polizzi A, Incorpora G, Spalice A, Pavone P, Praticò AD, Elia M, Gabriele AL, Tenconi R, Pavone L. (literal)
Pagina inizio
  • 211 (literal)
Pagina fine
  • 216 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url
  • http://biblioproxy.cnr.it:2106/content/pdf/10.1007%2Fs00381-008-0706-5.pdf (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 25 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali
  • 6 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
  • 2 (literal)
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • M. Ruggieri from Institute of Neurological Science (ISN),National Research Council (CNR),Viale R. Margherita, 6, Catania 95124, Italy; P. Iannetti and A. Spalice from Division of Child Neurology, Department of Paediatrics, University \"La Sapienza\", Rome, Italy; M. Clementi and R. Tenconi from Institute of Epidemiology and Medical Genetics, Department of Paediatrics, University of Padua, Padua, Italy; A. Polizzi from National Centre for Rare Diseases, Istituto Superiore di Sanitá, Rome, Italy; M. Ruggieri, G. Incorpora, P. Pavone, A. D. Praticò and L. Pavone from Department of Paediatrics, University of Catania, Catania, Italy;M. Elia from Institute for Mental Retardation and Developmental Disabilities, Department of Neurology, Oasi Maria SS., Troina, Italy; A. L. Gabriele from Molecular Genetics Unit, Institute of Neurological Science (ISN), National Research Council (CNR), Piano Lago di Mangone, Cosenza, Italy. (literal)
Titolo
  • Neurofibromatosis type 1 and infantile spasms. (literal)
Abstract
  • There is no agreement on the prevalence, natural history and outcome of infantile spasms (IS) in neurofibromatosis type 1 (NF1). By contrast, its prevalence and outcome are well characterised in the setting of other neurocutaneous disorders (e.g. tuberous sclerosis). The aim of the present study was to try to establish a genotype-phenotype correlation in IS in the setting of NF1. A retrospective (years 1990-2000) and prospective (years 2000-2006) study in three paediatric centres in Italy were taken as referral populations for: (1) children with NF1 and (2) neurological problems in childhood. Ten NF1 patients have had IS. The calculated population-based: (1) prevalence of IS in NF1 (0.76%) was higher than the reported frequency of IS in the general population (0.02-0.05%) and (2) frequency of NF1 in the IS series in two out of three centres (0.62-0.90%) was lower than the estimated frequencies in the literature (1.5-3.0%). Patients had psychomotor delay preceding the spasms (50%), symmetrical spasms (50%), typical (80%) and modified (20%) hypsarrhythmia and foci of spikes and waves and a good response to corticosteroid treatment (50%). Outcome was good in 30%. Imaging revealed high-signal foci in atypical locations (sub-cortical and central brain regions). Deoxyribonucleic acid analysis revealed three novel NF1 gene mutations without genotype-phenotype correlation. Even though the combination of IS and NF1 does not seem to be coincidental, it is certainly an unusual event in NF1-rarer than in other neurocutaneous disorders. Spasms in NF1 are not associated with specific genetic defects. (literal)
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