chapter  62
Neuropathologic features of tuberous sclerosis
ByHarry V. Vinters, Hajime Miyata
Pages 16

Tuberous sclerosis complex (abbreviated as TSC), first described in the late 1800s by Bourneville, is an autosomal dominant, multisystem disorder in which the skin, CNS, eyes, kidneys, and heart are affected by malformative, hamartomatous and/or neoplastic lesions (Kwiatkowski and Short, 1994; Short et al., 1995; Crino and Henske, 1999; Gomez et al., 1999; Vinters et al., 1999; Narayanan, 2003). Characteristic brain abnormalities include neocortical tubers (which are frequently though not invariably epileptogenic), subependymal nodules (SENs) and subependymal giant cell astrocytomas (SEGAs) (Mizuguchi and Takashima, 2001). Despite the modern tendency to dispense with eponyms, TSC is still sometimes referred to as Bourneville’s disease. Over the past 10-15 years, since identification of the two TSC genes (European Chromosome 16 Tuberous Sclerosis Consortium, 1993; van Slegtenhorst M, et al., 1997), mutations in which determine the phenotype, there has been an explosion in our understanding of its cellular pathogenesis (Crino and Henske, 1999; Gomez et al., 1999; MacCollin and Kwiatkowski, 2001; Narayanan, 2003). The multiorgan involvement and polymorphous clinicopathologic manifestations of TSC have piqued the interest of a range of investigators, from basic cancer researchers and cell biologists interested in molecular mechanisms of cell proliferation and differentiation, to neurobiologists intrigued by ‘excitable/ epileptogenic’ brain tissue.