Article
Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis.
Neurology - 15 Jan 1999
Lauronen L, Munroe P B, Järvelä I, Autti T, Mitchison H M, O'Rawe A M, Gardiner R M, Mole S E, Puranen J, Häkkinen A M, Kirveskari E, Santavuori P
Abstract excerpt
OBJECTIVE: To correlate the phenotypes with the genotypes of 10 Finnish juvenile neuronal ceroid lipofuscinosis (JNCL; late-onset Batten disease) patients who all are compound heterozygotes for the major 1.02-kb deletion in the CLN3 gene. METHODS: The mutations on the non-1.02-kb deletion chromos...
Topics
- Adolescent
- Adult
- Age of Onset
- Case-Control Studies
- Child
- Chromosome Deletion
- Evoked Potentials, Somatosensory
- Exons
- Female
- Genotype
- Heterozygote
- Humans
- Magnetic Resonance Imaging
- Magnetic Resonance Spectroscopy
- Magnetoencephalography