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  • Title: [Familial forms of central nervous system cavernomas: from recognition to gene therapy].
    Author: Labauge P.
    Journal: Neurochirurgie; 2007 Jun; 53(2-3 Pt 2):152-5. PubMed ID: 17498752.
    Abstract:
    Ten percent of all cavernomas are familial forms. 300 independent families have been identified in France since 1995. Clinical manifestations are more frequent in familial (50%) than in sporadic forms (5%). The symptoms are the same in both forms: epilepsy, hemorrhages, neurological focal deficits and headache, but hemorrhages are more frequent and the age of revelation is younger, before 30 years. It is also frequent to observe extraneural location, cutaneous and retinal. On MRI, four types of lesional aspects were described and lesions are multiple in all cases with numerous "de novo" cavernomas. The prognostic does not depend on the number of lesions, but on their topography, especially in the brain stem. Familial forms may be considered not only as a neurological but as a systemic disease for which global management with a genetic counseling should be considered. Gene therapy is not today available, but perhaps in the future.
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