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Clinical and magnetic resonance imaging findings in batten disease: Analysis of the major mutation (1.02‐kb deletion)
Author(s) -
Järvelä Irma,
Autti Taina,
Lamminranta Sirkka,
Åberg Laura,
Raininko Raili,
Santavuori Pirkko
Publication year - 1997
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410420517
Subject(s) - batten disease , phenotype , neuronal ceroid lipofuscinosis , mutation , genotype , disease , magnetic resonance imaging , epilepsy , genetics , biology , gene , medicine , neuroscience , radiology
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.