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[Marinesco-Sjögren syndrome]

M Yvonneau, F Dupouy

    L'Encephale
    |January 1, 1977
    PubMed
    Summary
    This summary is machine-generated.

    This study discusses a rare case of Marinesco-Sjogren syndrome, highlighting its varied symptoms including cerebellar syndrome, myopia, and epilepsy. The findings suggest broader diagnostic criteria for this complex genetic disorder.

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    Area of Science:

    • Neurology
    • Genetics
    • Ophthalmology

    Background:

    • The Marinesco-Sjogren syndrome is a rare, inherited disorder characterized by cerebellar ataxia, intellectual disability, and congenital cataracts.
    • Previous research suggests a potential link to dyslipoidosis, with lipid metabolism abnormalities implicated.