Article
The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients.
American journal of human genetics - 1 Sept 1995
Shaag A, Anikster Y, Christensen E, Glustein J Z, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot M T
Abstract excerpt
Canavan disease is an infantile neurodegenerative disease that is due to aspartoacylase deficiency. The disease has been reported mainly in Ashkenazi Jews but also occurs in other ethnic groups. Determination of enzymatic activity for carrier detection and prenatal diagnosis is considered unreliable. In the present study, nine mutations were found in the aspartoacylase gene of 19 non-Jewish patients. These...
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