Molecular genetic aspects of the phakomatoses: tuberous sclerosis complex and neurofibromatosis 1.
The phakomatoses are a diverse group of diseases characterized by skin lesions in early childhood followed by the development of tumors in many other organs. Tuberous sclerosis complex and neurofibromatosis 1 are of special interest to the neurologist because of their prominent neuro-oncological and neuro-developmental consequences. The cloning of genes responsible for these two diseases has led to the identification of causative mutations, an understanding of basic cellular pathophysiology and the development of animal models. Current laboratory investigations are focused on bringing clinical relevance to these findings, including the prospects of molecular diagnostics and rational therapeutics.
Neurology Service, Massachusetts General Hospital, MGH East, Building 149, 13th Street, Charlestown, MA 02129, USA. maccollin@helix.mgh.harvard.edu
M
M
MacCollin
D
D
Kwiatkowski
D000818:Animals; D004252:DNA Mutational Analysis; D004195:Disease Models, Animal; D006801:Humans; D009030:Mosaicism / Q000235:genetics / Q000503:physiopathology; D009154:Mutation / Q000502:physiology; D009456:Neurofibromatosis 1 / Q000235:genetics* / Q000503:physiopathology; D014402:Tuberous Sclerosis / Q000235:genetics* / Q000503:physiopathology