Abstract
Typically, late infantile neuronal ceroid-lipofuscinosis (LINCL) patients present between the ages of 2 and 4 years with progressive dementia, blindness, seizures, and motor dysfunction. Curvilinear profiles are seen on electron microscopic examination of tissues derived from those patients. Data were collected on 122 LINCL cases, representing 81 independent families, diagnosed on the basis of age of onset, clinical symptomatology, and pathologic findings. Careful analysis of our data has revealed that 20% of these cases (24 of 122) show either an atypical clinical course or atypical pathologic findings and may represent variants of LINCL. Recent progress in the biochemistry and molecular genetics of NCL has led us to reevaluate these atypical cases. Five atypical LINCL cases (representing three independent families) manifested granular inclusions when examined by electron microscopy, a finding normally associated with the infantile form of NCL. In addition, these five cases did not show elevated subunit c levels in urine (typically seen in LINCL). In these five cases, palmitoyl-protein thioesterase activity was found to be deficient (less than 10% normal activity), suggesting that these cases represent INCL, presenting at a la...Continue Reading
References
Apr 1, 1978·Journal of the Neurological Sciences·B D Lake, N P Cavanagh
Feb 15, 1992·American Journal of Medical Genetics·K E WisneiwskiF Connell
May 1, 1991·Neuropediatrics·P SantavuoriK Sainio
Jan 1, 1988·American Journal of Medical Genetics. Supplement·K E WisniewskiJ Heaney-Kieras
Oct 1, 1974·Developmental Medicine and Child Neurology·P SantavuoriJ Rapola
Aug 1, 1982·Neuropediatrics·P SantavuoriC Raitta
Aug 17, 1995·Nature·J VesaL Peltonen
Jan 1, 1995·Methods in Enzymology·L A Camp, S L Hofmann
Jun 5, 1995·American Journal of Medical Genetics·P Dyken, K Wisniewski
Jun 5, 1995·American Journal of Medical Genetics·E KidaF Connell
Jun 5, 1995·American Journal of Medical Genetics·K E WisniewskiE Kida
Jan 1, 1994·Journal of Inherited Metabolic Disease·K E WisniewskiE Kida
Jun 1, 1993·Neuropediatrics·K E WisniewskiR J Konkol
Jun 28, 1996·The Journal of Biological Chemistry·L A Verkruyse, S L Hofmann
Sep 17, 1996·Proceedings of the National Academy of Sciences of the United States of America·J Y LuS L Hofmann
Sep 20, 1997·Science·D E SleatP Lobel
Citations
Jun 21, 2005·Neurogenetics·Sara E MoleHans H Goebel
May 8, 1999·Gene·Z ZhangA B Mukherjee
May 30, 2009·Epilepsia·Nivetha RamachandranBerge A Minassian
Jul 17, 1998·The Journal of Clinical Investigation·A K DasS L Hofmann
Oct 2, 2013·Journal of Pediatric Neurosciences·Gururaj SettyNahin Hussain
Sep 11, 2014·Human Molecular Genetics·Jake N MillerDavid A Pearce
Mar 24, 2009·Pediatric Neurology·Alessandro SimonatiFilippo M Santorelli
Mar 5, 2004·Brain Pathology·Hans H Goebel, Krystyna E Wisniewski
Apr 7, 1999·Molecular Genetics and Metabolism·R E WilliamsB D Lake
Apr 7, 1999·Molecular Genetics and Metabolism·J SuopankiM Haltia
Mar 9, 1999·Neurobiology of Disease·S E Mole
Dec 3, 2014·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Dana CraiuCatrinel Iliescu
Jun 9, 2006·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Maria BonsignoreFilippo M Santorelli
Jul 17, 2013·Journal of Child Neurology·Jake N Miller, David A Pearce
Jul 11, 2013·Journal of Child Neurology·Jonathan W MinkJennifer M Kwon
Oct 13, 2011·Human Mutation·Maria KousiSara E Mole
Dec 22, 2005·Human Molecular Genetics·Zhongjian ZhangAnil B Mukherjee
Oct 1, 2019·Molecular Genetics & Genomic Medicine·Myriam MirzaDanielle M Kerkovich
Apr 3, 2001·Nature Medicine·Z ZhangA B Mukherjee
Mar 31, 2006·Human Molecular Genetics·Sung-Jo KimAnil B Mukherjee
May 18, 2021·Pediatric Neurology·Erika F AugustineSharon King