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
ABATI , SILVIO;
2004-01-01
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
