Natural history of neurofibromatosis type 2 with onset before the age of 1 year

Neurofibromatosis type 2 (NF2) with onset before the first year of life has been anecdotally reported in the literature. We (a) prospectively (years 1997–2012) followed up three unrelated NF2 children, all harbouring NF2 gene mutations whose onset of disease was before age 1 year, and (b) systematic...

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Published in:Neurogenetics 2013-05, Vol.14 (2), p.89-98
Main Authors: Ruggieri, Martino, Gabriele, Anna Lia, Polizzi, Agata, Salpietro, Vincenzo, Nicita, Francesco, Pavone, Piero, Platania, Nunzio, Milone, Pietro, Distefano, Angela, Privitera, Giuseppe, Belfiore, Giuseppe, Granata, Francesca, Caltabiano, Rosario, Albanese, Vincenzo, Pavone, Lorenzo, Quattrone, Aldo
Format: Article
Language:English
Subjects:
Adolescent
Age of Onset
Biomedical and Life Sciences
Biomedicine
Brain Neoplasms - diagnosis
Brain Neoplasms - genetics
Brain Neoplasms - pathology
Child
Children & youth
Disease Progression
Female
Genes, Neurofibromatosis 2 - physiology
Human Genetics
Humans
Infant
Magnetic Resonance Imaging - methods
Male
Molecular Medicine
Mutation - genetics
Neurofibromatosis 2 - diagnosis
Neurofibromatosis 2 - genetics
Neurofibromatosis 2 - pathology
Neurosciences
NMR
Nuclear magnetic resonance
Original Article
Prospective Studies
Retina
Systematic review
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Summary:Neurofibromatosis type 2 (NF2) with onset before the first year of life has been anecdotally reported in the literature. We (a) prospectively (years 1997–2012) followed up three unrelated NF2 children, all harbouring NF2 gene mutations whose onset of disease was before age 1 year, and (b) systematically reviewed published reports on NF2 in the youngest age group (i.e. onset
ISSN:1364-6745
1364-6753
DOI:10.1007/s10048-013-0354-0