| The neurofibromatoses. An overview. | |
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MedLine Citation:
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PMID: 10933430 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The last two decades have seen clinical and molecular delineation of the different forms of neurofibromatosis. Differentiation of these forms is not just an academic exercise: their natural history, management and genetic counselling are quite different. Of the numerical classifications of neurofibromatosis proposed in the past, only neurofibromatosis type 1 (Nf1) and neurofibromatosis type 2 (Nf2) are now well delineated clinically and have been shown to be distinct at the molecular level. For both forms of neurofibromatosis, patients with clinical generalised disease have been demonstrated to be mosaic at the molecular level, and features of segmental or mosaic Nf1 and Nf2 have been delineated. Other reported forms of neurofibromatosis are rarer; they include Watson syndrome, hereditary spinal neurofibromatosis, familial intestinal neurofibromatosis, autosomal dominant café-au-lait spots alone, autosomal dominant neurofibromas alone, and schwannomatosis, the latter believed to be a variant of Nf2. Further delineation is needed for individuals having overlapping features of Noonan's syndrome and neurofibromatosis (the so-called Noonan/neurofibromatosis syndrome) and the syndrome of "multiple naevi, multiple schwannomas and multiple vaginal leiomyomas". In this article we review the forms of neurofibromatosis which we believe are true clinical entities. Particular attention is given to the neurological manifestations of neurofibromatosis. |
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Authors:
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M Ruggieri; S M Huson |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: Italian journal of neurological sciences Volume: 20 ISSN: 0392-0461 ISO Abbreviation: Ital J Neurol Sci Publication Date: 1999 Apr |
Date Detail:
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Created Date: 2000-08-29 Completed Date: 2000-08-29 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 8006502 Medline TA: Ital J Neurol Sci Country: ITALY |
Other Details:
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Languages: eng Pagination: 89-108 Citation Subset: IM |
Affiliation:
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Department of Paediatrics, University of Catania, Italy. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Humans Neurofibromatoses / classification, diagnosis, physiopathology* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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