Article
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.
Nature genetics - 1 Dec 1999
Verheijen F W, Verbeek E, Aula N, Beerens C E, Havelaar A C, Joosse M, Peltonen L, Aula P, Galjaard H, van der Spek P J, Mancini G M
Abstract excerpt
Sialic acid storage diseases (SASD, MIM 269920) are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or a slowly progressive adult form, which is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia and mental retardation; visceromegaly and coarse features are also present in infantile cases. Progressive cerebellar atrophy and...
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