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First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis

✍ Scribed by W. J. Kleijer; O. P. van Diggelen; J. L. M. Keulemans; M. Losekoot; V. H. Garritsen; H. Stroink; D. Majoor-Krakauer; P. F. Franken; M. C. M. Eurlings; P. E. M. Taschner; F. J. Los; R. J. H. Galjaard

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 53 KB
Volume: 21
Category: Article
ISSN: 0197-3851
DOI: 10.1002/1097-0223(200102)21:2<99::aid-pd988>3.0.co;2-f

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Infantile neuronal ceroid lipofuscinosis (INCL) is a progressive neurodegenerative disorder in childhood which is caused by the deficiency of the lysosomal palmitoyl-protein thioesterase (PPT) encoded by the CLN1 gene. In a pregnancy at risk for INCL, chorionic villi (CV) were studied using a novel

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We report the exclusion of late infantile neuronal ceroid lipofuscinosis in a fetus by assay of tripeptidyl peptidase I activity and by mutational analysis in chorionic villi. This is the ®rst pregnancy at risk for LINCL to be monitored by enzyme assay. No morphological abnormalities were detected.