Neurofibromatosis type 1 &amp; Related Disorders

Ruggieri, Martino; Upadhyaya, Meena; Rocco, Concezio Di; Gabriele, A. L.; Pascual-Castroviejo, I

doi:10.1007/978-3-211-69500-5_3

Cited by 18 publications

(22 citation statements)

References 405 publications

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“…It is notable that given the relatively high frequency of other brain findings in NF1 [vide supra; reviewed in Huson and Hughes, 1994;Ferner et al, 2007;Ruggieri et al, 2008b] and the key role played by the NF1 gene product, neurofibromin, in normal brain development [Gutmann et al, 1995;Lakkis and Tennekoon, 2001;Li et al, 2001;Zhu et al, 2001], there are not more NF1 cases with PMG or other brain malformations.…”

Section: Discussionmentioning

confidence: 98%

“…The involvement of the nervous system in neurofibromatosis type 1 (NF1) mainly consists of learning disabilities, plexiform neurofibromas, cerebral tumors, headaches, acqueductal stenosis, cerebrovascular disease, meningoceles, neurofibromatous neuropathies, and cerebral high-signal lesions on T2-weighted magnetic resonance (MR) images [Huson and Hughes, 1994;Barkovich, 2005;Ferner et al, 2007;Ruggieri et al, 2008b]. Besides the wellknown association between macrocephaly/megalencephaly and NF1, disorders of cortical development are relatively infrequent in those afflicted with NF1 [Cusmai et al, 1990;Kato et al, 1995;Balestri et al, 2003;Barkovich, 2005;Bodhey and Gupta, 2006;Chang et al, 2006].…”

Section: Introductionmentioning

confidence: 99%

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Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1

Ruggieri

Mastrangelo

Spalice

et al. 2011

American J of Med Genetics Pt A

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Anecdotal cases of polymicrogyria (PMG; a malformation of cortical development consisting of an excessive number of small gyri with abnormal lamination) in patients with neurofibromatosis type 1 (NF1) have been described; however, the cases were unilateral and had negative NF1 genetic testing. We describe an 11-year-old girl with NF1 manifesting as a complex epileptic syndrome, including partial seizures secondarily generalized and status epilepticus, who had in association, bilateral, asymmetrical (opercular and paracentral lobular) PMG. She had a 1-bp deletion (c.1862delC) in exon 12b of the NF1 gene. It is notable that, given the key role played by the NF1 gene product, neurofibromin, in normal brain development, and the relatively high frequency of other brain findings in NF1, there are not more NF1 cases with brain malformations manifesting as PMG.

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Section: Discussionmentioning

confidence: 98%

Section: Introductionmentioning

confidence: 99%

Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1

Ruggieri

Mastrangelo

Spalice

et al. 2011

American J of Med Genetics Pt A

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“…Other brain malformations are rare, the most frequent being aqueduct stenosis leading to hydrocephalus which in some cases can be due to non progressive proliferation of subependimal glial cells around the aqueduct [112].…”

Section: Central Nervous Systemmentioning

confidence: 99%

Developmental Abnormalities and Cancer Predisposition in Neurofibromatosis Type 1

Larizza

Gervasini

Natacci

et al. 2009

CMM

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Neurofibromatosis type 1 (NF1) is a developmental and cancer predisposing syndrome resulting from haploinsufficiency or alteration in neurofibromin, a multifunctional protein that acts in various signaling pathways affecting morphogenetic processes and cell proliferation. Neurofibromin deficiency deregulates Ras/Raf/MEK/ERK and Ras/PI3K/AKT/PKB/mTOR signaling networks and intersected pathways including the cAMP-dependent protein kinase A (PKA) and the Rho-cofillin which acts on actin cytoskeleton reorganization, cell motility and adhesion. As the neurofibromin-mediated pathways are associated with biological effects depending on the cell lineage, deregulation induced by NF1 mutation clearly has cell type-specific effects. This review summarizes our increasing knowledge of NF1 as a disease rooted in defective developmental mechanisms that can also influence the potential for malignant growth. The cardinal features of NF1 patients, at birth and during life involve the cardiovascular, connective/skeletal and central nervous systems, as they reflect the NF1 mutation sensitivity of cell lineages committed to specifying these systems during embryonic development. A switch to neoplastic transformation may also occur in both the prenatal and postnatal life in cancer initiating cells of defined lineages, with the cooperation of a genetically and epigenetically modified tumor microenvironment. We emphasize how much of our current knowledge of the pathomechanisms of NF1 clinical signs and cancer has come from engineered mouse models and in vitro primary cells and cell lines exposed to inhibitors of signaling molecules. Advances in our knowledge of the developmental defects primed by the loss neurofibromin should reveal further associations between given NF1 mutations and tissue-specific symptoms, thus improving the clinical management of the patients.

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“…Segmental NF1 is estimated to be rarer than the fullblown phenotype, with a prevalence of 1 in 36-40,000 subjects. 1 In patients with segmental form, the involved parts of the body may develop all the manifestations with the same chronological order as they appear in the generalized phenotype. 2 Ocular NF1 manifestations include LN, optic pathway glioma, eyelid and/or conjunctival neurofibromas, choroidal hamartomas, and orbital plexiform neurofibromas.…”

mentioning

confidence: 99%

“…Lisch nodules, asymptomatic melanocytic hamartomas of the iris, are the most common ocular NF1 findings and are included among diagnostic criteria. 1 They usually develop during childhood with their prevalence increasing with age (90-100% of adult patients with generalized NF1). 3 LN have been reported only occasionally in segmental NF1 4,5 or in partial unilateral lentiginosis.…”

mentioning

confidence: 99%

Unilateral Lisch Nodules in a 47-year-old Woman Without Other Stigmata of Neurofibromatosis Type I: An Example of Segmental Neurofibromatosis?

Nicita

Iannetti

Spalice

et al. 2012

Ophthalmic Genetics

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Neurofibromatosis type 1 & Related Disorders

Cited by 18 publications

References 405 publications

Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1

Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1

Developmental Abnormalities and Cancer Predisposition in Neurofibromatosis Type 1

Unilateral Lisch Nodules in a 47-year-old Woman Without Other Stigmata of Neurofibromatosis Type I: An Example of Segmental Neurofibromatosis?

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