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 Volume 56, Number 11, June 12, 2001
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Neurology 2001;56:1433-1443
© 2001 American Academy of Neurology
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The clinical and diagnostic implications mosaicism in the neurofibromatoses

Martino Ruggieri, MD, PhD; and Susan M. Huson, MD, FRCP

From the Institute of Bioimaging and Pathophysiology of the Central Nervous System (Dr. Ruggieri), National Research Council, Catania, and the Department of Pediatrics, University of Catania, Italy; and the Department of Clinical Genetics (Dr. Huson), Oxford Radcliffe Hospital, Oxford, UK.

Address correspondence and reprint requests to Dr. Martino Ruggieri, IBFSNC, National Research Council (CNR), Viale Regina Margherita, 6, 95125, Catania, Italy; e-mail: ruggieri{at}area.ct.cnr.it

Neurofibromatosis type 1 and type 2 both occur in mosaic forms. Mosaicism results from somatic mutations. Early somatic mutations cause generalized disease, clinically indistinguishable from nonmosaic forms. Later somatic mutation gives rise to localized disease often described as segmental. In individuals with mosaic or localized manifestations of neurofibromatosis type 1 (segmental neurofibromatosis type 1), disease features are limited to the affected area, which varies from a narrow strip to one quadrant and occasionally to one half of the body. Distribution is usually unilateral but can be bilateral, either in a symmetric or asymmetrical arrangement. Patients with localized neurofibromatosis type 2 have disease-related tumors localized to one part of the nervous system; for example a unilateral vestibular schwannoma with ipsilateral meningiomas or multiple schwannomas in one part of the peripheral nervous system. The recognition of mosaic phenotypes is important. Individuals with the mosaic form, even with a generalized phenotype, are less likely to have severe disease. They also have lower offspring recurrence risk than individuals with the nonmosaic form. The mosaic forms of neurofibromatosis provide a good example of the effects of somatic mutation. It is increasingly recognized that mild and unusual forms of many dominantly inherited disorders are caused by the same mechanism.




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