Open AccessClinical, Neuropathological and Genetic Aspects of the Tuberous Sclerosis Complex
Author(s) -
Short M. Priscilla,
Richardson Edward P.,
Haines Jonathan L.,
Kwiatkowski David J.
Publication year - 1995
Publication title -
brain pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.986
H-Index - 132
eISSN - 1750-3639
pISSN - 1015-6305
DOI - 10.1111/j.1750-3639.1995.tb00591.x
Subject(s) - tuberous sclerosis , tsc1 , tsc2 , chromosome , biology , gene , genetics , pathology , neuroscience , medicine , pi3k/akt/mtor pathway , signal transduction
Tuberous sclerosis complex (TSC) is an autosomal dominant syndrome in which patients develop hamartomatous lesions in the nervous system and a host of other organs. While considerable experience has been gained in defining the clinical spectrum of TSC, a number of nosological questions remain. Neuropathological studies have continued to refine our knowledge of the nervous system abnormalities that characterize TSC. Molecular genetic studies have implicated two chromosomal regions in the genesis of TSC, one on chromosome 9q and the other on chromosome 16p. The chromosome 16p gene, designated TSC2 , has been cloned, although its function remains speculative. The identification of the TSC1 gene on chromosome 9q, along with functional studies and mutational analyses of both TSC genes, will likely provide fascinating insights into the pathogenesis of TSC.