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    Ann Neurol. 2000 Feb;47(2):254-7.

    Prenatal testing for late infantile neuronal ceroid lipofuscinosis.

    Berry-Kravis E, Sleat DE, Sohar I, Meyer P, Donnelly R, Lobel P.

    Department of Pediatrics, Rush-Presbyterian-St Luke's Medical Center, Chicago, IL 60612, USA.

    Classic late infantile neuronal ceroid lipofuscinosis (LINCL) is a neurodegenerative disease in which autofluorescent "curvilinear" storage bodies accumulate in tissues from affected patients. Recently, the LINCL gene (CLN2) has been found to code for a pepstatin-insensitive lysosomal protease whose activity is deficient in LINCL specimens. We report the first 2 cases of successful prenatal testing for LINCL by using DNA and enzyme-based methods on amniocytes, and describe a new private mutation in one of the families analyzed. These approaches allow definitive prenatal diagnosis and represent a significant improvement over previous pathological methods.

    PMID: 10665500 [PubMed - indexed for MEDLINE]

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