Article
Molecular basis of late infantile metachromatic leukodystrophy in the Habbanite Jews.
Human mutation - 1 Jan 1995
Zlotogora J, Bach G, Bösenberg C, Barak Y, von Figura K, Gieselmann V
Abstract excerpt
Late infantile metachromatic leukodystrophy (MLD) is a neurodegenerative disease, most commonly caused by the deficiency of the lysosomal enzyme arylsulfatase A (ARSA). Late infantile MLD is frequent (1/75 live birth) in a small Jewish community which lived in Habban, isolated from the other Jewish populations. The gene coding for ARSA was sequenced in one of the Habbanite patients, who was found to be homozygous...
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