Tuberous sclerosis complex (TSC) is a genetic disorder characterized by multiple hamartomas in several organs, particulary in the brain. Genetic linkage study led to discovery of two genes linked to TSC: TSC1 encoding a protein called hamartin, and TSC2 encoding tuberin. A cognitive impairment is often associated to TSC. The cognitive impairment is traditionally related to a number of cerebral tubers. We report 29 patients with TSC in which 14 (48.9%) showed a mild neurological phenotype with normal intellectual level. Surprisingly, 7 (50%) patients with mild phenotype showed a number of cerebral hamartomas major than 9. In this way we suggest that other aetiological hypoteses than the number of tubers should be considered to explain the intellectual impairment in TSC.
Gruppo di studio multidisciplinare per la TSC : Risultati preliminari = Multicentric study group for tuberous sclerosis complex : Preliminary results / R. Chifari, M.P. Canevini, A. Piazzini, K. Turner, R. Alfano, S. Bosari, L. Caverni, E. Lesma, D. Boccardi, S. Abati, R. Rozza, E. Riva, R. Canger, A. Gorio. - In: BOLLETTINO-LEGA ITALIANA CONTRO L'EPILESSIA. - ISSN 0394-560X. - 2004:125-126(2004 Jul), pp. 297-298. (Intervento presentato al 27. convegno Atti del Congresso Nazionale : 19-22 Settembre = Proceedings of National Congress : 19-22 September tenutosi a Milano nel 2004).
Gruppo di studio multidisciplinare per la TSC : Risultati preliminari = Multicentric study group for tuberous sclerosis complex : Preliminary results
R. Chifari
;M.P. CaneviniSecondo
;K. Turner;S. Bosari;E. Lesma;S. Abati;R. CangerPenultimo
;A. GorioUltimo
2004
Abstract
Tuberous sclerosis complex (TSC) is a genetic disorder characterized by multiple hamartomas in several organs, particulary in the brain. Genetic linkage study led to discovery of two genes linked to TSC: TSC1 encoding a protein called hamartin, and TSC2 encoding tuberin. A cognitive impairment is often associated to TSC. The cognitive impairment is traditionally related to a number of cerebral tubers. We report 29 patients with TSC in which 14 (48.9%) showed a mild neurological phenotype with normal intellectual level. Surprisingly, 7 (50%) patients with mild phenotype showed a number of cerebral hamartomas major than 9. In this way we suggest that other aetiological hypoteses than the number of tubers should be considered to explain the intellectual impairment in TSC.
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