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Clinical and magnetic resonance imaging findings in Batten disease: Analysis of the major mutation (1.02-kb deletion)
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1997 (English)In: Annals of Neurology, ISSN 0364-5134, Vol. 42, no 5, 799-802 p.Article in journal (Refereed) Published
Abstract [en]

A total of 36 patients with Batten disease (juvenile-onset neuronal ceroid lipofuscinosis), homozygous or heterozygous for the major mutation, a 1.02-kb deletion, in the CLN3 gene, were studied to relate their genotype to their clinical phenotype. The onset of visual failure and epilepsy was highly concordant in both groups. Great inter- and intrafamilial heterogeneity was demonstrated in the development of mental and physical handicap and in magnetic resonance imaging findings among both homozygous and heterozygous patients. The 1.02-kb deletion in homozygous form was always associated with mental and physical handicap, whereas the heterozygous phenotype could be extremely benign without affecting the intellectual level of the patient. Our data suggest that genetic background, modifying genes, and environmental factors all influence the final phenotype of Batten disease.

Place, publisher, year, edition, pages
1997. Vol. 42, no 5, 799-802 p.
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Medical and Health Sciences
URN: urn:nbn:se:uu:diva-57601PubMedID: 9392580OAI: oai:DiVA.org:uu-57601DiVA: diva2:85510
Available from: 2008-10-17 Created: 2008-10-17 Last updated: 2010-02-03Bibliographically approved

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