Article
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations.
Neurologia i neurochirurgia polska - 1 Jan 2000
Krygier Magdalena, Konkel Agnieszka, Schinwelski Michał, Rydzanicz Małgorzata, Walczak Anna, Sildatke-Bauer Magdalena, Płoski Rafał, Sławek Jarosław
Abstract excerpt
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare hereditary ataxia, characterized by the triad of early-onset cerebellar ataxia, peripheral sensorimotor neuropathy and lower limb spasticity. Although ARSACS is increasingly reported worldwide, we present the first Polish family with a comprehensive clinical and neuropsychological assessment, harboring two novel mutations in the SACS...
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