Article
Clinical and magnetic resonance imaging findings in Batten disease: analysis of the major mutation (1.02-kb deletion).
Annals of neurology - 1 Nov 1997
Järvelä I, Autti T, Lamminranta S, Aberg L, Raininko R, Santavuori P
Abstract excerpt
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 high...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- DNA Mutational Analysis
- Disease Progression
- Gene Deletion
- Heterozygote
- Homozygote
- Humans
- Magnetic Resonance Imaging
- Mental Disorders