Abstract
In the cerebrum of patients with tuberous sclerosis (TSC), there are three types of
nodular lesions: cortical tubers, subcortical heterotopic nodules and subependymal
giant cell astrocytomas. Histologically, these hamartias and hamartomas contain abnormal
giant cells that show evidence of abnormal differentiation of immature neural cells.
Recent identification of the TSC1 and TSC2 genes has facilitated studies of the molecular pathology of TSC. The expression of
their protein products, hamartin and tuberin, is altered in various TSC lesions. However,
the molecular mechanism by which cortical tubers develop remains to be elucidated.
The Eker rat, a naturally occurring animal model of TSC, will provide a powerful tool
for future investigations of TSC.
Keywords
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Article info
Publication history
Accepted:
June 8,
2001
Received in revised form:
June 5,
2001
Received:
May 24,
2001
Identification
Copyright
© 2001 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.
