Article
Diagnosis and molecular characterization of non-classic forms of Tay-Sachs disease in Brazil.
Journal of child neurology - 1 Jun 2006
Rozenberg R, Kok F, Burin M G, Sá Miranda M C, Vasques C, Henriques-Souza A M M, Giugliani R, Vainzof Mariz, Pereira L V
Abstract excerpt
Molecular analysis of five Brazilian families, including eight patients presenting with nonclassic Tay-Sachs disease, was performed to identify frequent causative mutations and their correlation with clinical course. Three patients were affected by the B1 subacute variant and were shown to carry the R178H mutation (the DN allele), which is also common among Portuguese patients. Two of them were compound...
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