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      Optic Disc Edema Associated with Spinocerebellar Degeneration

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          A 58-year-old man presented with optic disc edema as a rare association with spinocerebellar degeneration (SCD). The patient also had chronic idiopathic intestinal pseudo-obstruction with hypoalbuminemia. No elevation of intraspinal pressure and no intracranial lesion was observed. The hypoalbuminemia reacted promptly to treatment, whereas the optic disc edema regressed gradually. An association between SCD and optic atrophy has often been described, but to our knowledge this is the first report of SCD in association with optic disc edema.

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          Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

          Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disorder characterized by neurodegeneration of the cerebellum, spinal cord and brainstem. A 1.2-Megabase stretch of DNA from the short arm of chromosome 6 containing the SCA1 locus was isolated in a yeast artificial chromosome contig and subcloned into cosmids. A highly polymorphic CAG repeat was identified in this region and was found to be unstable and expanded in individuals with SCA1. There is a direct correlation between the size of the (CAG)n repeat expansion and the age-of-onset of SCA1, with larger alleles occurring in juvenile cases. We also show that the repeat is present in a 10 kilobase mRNA transcript. SCA1 is therefore the fifth genetic disorder to display a mutational mechanism involving an unstable trinucleotide repeat.

            Author and article information

            S. Karger AG
            August 1998
            18 June 1998
            : 212
            : 4
            : 281-283
            Department of Ophthalmology, Tohoku University School of Medicine, Sendai, Miyagi, Japan
            27308 Ophthalmologica 1998;212:281–283
            © 1998 S. Karger AG, Basel

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            Page count
            Pages: 3
            Case Report · Description de cas · Fallbericht


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