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 chromosomes were screened in 6 patients; in the other 4 patients the mutations were known (one affecting a splice site, two missense mutations, and one deletion of exons 10 through 13). Clinical features were examined, and MRI, MRS, somatosensory evoked magnetic field (SEF), and overnight polysomnography (PSG) studies were performed. RESULTS: A novel deletion of exons 10 through 13 was found in 6 patients belonging to three families. In the patients carrying the deletions of exons 10 through 13 the clinical course of the disease was fairly similar. Variation was greatest in the time course to blindness. In these patients the mental and motor decline was slower than in classic JNCL, but more severe than in the two patients with missense mutations in exons 11 and 13. MRI showed brain atrophy in 4 patients. One patient had hyperintense periventricular white matter, otherwise brain signal intensities were normal. SEFs were enhanced in patients older than 14 years, whereas in PSG all but the youngest 6-year-old patient showed epileptiform activity in slow-wave sleep. CONCLUSIONS: JNCL can manifest as at least three different phenotypes: classic, delayed classic, and protracted JNCL with predominantly ocular symptoms. Finnish compound heterozygotes have the delayed classic or the protracted form of JNCL.
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 chromosomes were screened in 6 patients; in the other 4 patients the mutations were known (one affecting a splice site, two missense mutations, and one deletion of exons 10 through 13). Clinical features were examined, and MRI, MRS, somatosensory evoked magnetic field (SEF), and overnight polysomnography (PSG) studies were performed. RESULTS: A novel deletion of exons 10 through 13 was found in 6 patients belonging to three families. In the patients carrying the deletions of exons 10 through 13 the clinical course of the disease was fairly similar. Variation was greatest in the time course to blindness. In these patients the mental and motor decline was slower than in classic JNCL, but more severe than in the two patients with missense mutations in exons 11 and 13. MRI showed brain atrophy in 4 patients. One patient had hyperintense periventricular white matter, otherwise brain signal intensities were normal. SEFs were enhanced in patients older than 14 years, whereas in PSG all but the youngest 6-year-old patient showed epileptiform activity in slow-wave sleep. CONCLUSIONS:JNCL can manifest as at least three different phenotypes: classic, delayed classic, and protracted JNCL with predominantly ocular symptoms. Finnish compound heterozygotes have the delayed classic or the protracted form of JNCL.
Authors: J M Kwon; H Adams; P G Rothberg; E F Augustine; F J Marshall; E A Deblieck; A Vierhile; C A Beck; N J Newhouse; J Cialone; E Levy; D Ramirez-Montealegre; L S Dure; K R Rose; J W Mink Journal: Neurology Date: 2011-10-19 Impact factor: 9.910
Authors: Heather R Adams; Christopher A Beck; Erika Levy; Rachel Jordan; Jennifer M Kwon; Frederick J Marshall; Amy Vierhile; Erika F Augustine; Elisabeth A de Blieck; David A Pearce; Jonathan W Mink Journal: Dev Med Child Neurol Date: 2010-02-19 Impact factor: 5.449
Authors: Samuel F Berkovic; John F Staropoli; Stirling Carpenter; Karen L Oliver; Stanislav Kmoch; Glenn W Anderson; John A Damiano; Michael S Hildebrand; Katherine B Sims; Susan L Cotman; Melanie Bahlo; Katherine R Smith; Maxime Cadieux-Dion; Patrick Cossette; Ivana Jedličková; Anna Přistoupilová; Sara E Mole Journal: Neurology Date: 2016-07-13 Impact factor: 9.910
Authors: Fred K Chen; Xiao Zhang; Jonathan Eintracht; Dan Zhang; Sukanya Arunachalam; Jennifer A Thompson; Enid Chelva; Dominic Mallon; Shang-Chih Chen; Terri McLaren; Tina Lamey; John De Roach; Samuel McLenachan Journal: Doc Ophthalmol Date: 2018-11-16 Impact factor: 2.379