Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis.

摘要: Objective: To correlate the phenotypes with genotypes of 10 Finnish juvenile neuronal ceroid lipofuscinosis (JNCL; late-onset Batten disease) patients who all are compound heterozygotes for major 1.02-kb deletion in CLN3 gene. Methods: The mutations on non–1.02-kb chromosomes were screened 6 patients; other 4 known (one affecting a splice site, two missense mutations, and one exons through 13). Clinical features examined, MRI, MRS, somatosensory evoked magnetic field (SEF), overnight polysomnography (PSG) studies performed. Results: A novel 13 was found belonging to three families. In carrying deletions clinical course disease fairly similar. Variation greatest time blindness. these mental motor decline slower than classic JNCL, but more severe 11 13. MRI showed brain atrophy patients. One patient had hyperintense periventricular white matter, otherwise signal intensities normal. SEFs enhanced older 14 years, whereas PSG youngest 6-year-old epileptiform activity slow-wave sleep. Conclusions: JNCL can manifest as at least different phenotypes: classic, delayed protracted predominantly ocular symptoms. have or form JNCL.