Article
Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease.
Neuropediatrics - 1 Aug 2005
Tacke U, Olbrich H, Sass J O, Fekete A, Horvath J, Ziyeh S, Kleijer W J, Rolland M-O, Fisher S, Payne S, Vargiami E, Zafeiriou D I, Omran H
Abstract excerpt
Canavan disease is characterised as a rare, neurodegenerative disease that usually causes death in early childhood. It is an autosomal recessive disorder due to an aspartoacylase (ASPA) deficiency. The causative gene has been mapped to chromosome 17 pter-p13. Here we describe three affected children from two Greek families with an unusually mild course of Canavan disease. All children presented with muscular...
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