Abstract
Late-infantile neuronal ceroid lipofuscinosis (LINCL), an autosomal recessively inherited lysosomal storage disorder characterized by autofluorescent inclusions and rapid progression of neurodegeneration, is due to CLN2 gene mutations. However, CLN2 mutation analysis has failed to identify some clinically diagnosed "late-infantile" NCL cases. This study was conducted to further characterize genetic heterogeneity in families affected by LINCL. DNA mutations in the CLN1, CLN2, and CLN3 genes that underlie INCL (infantile NCL), LINCL, and JNCL (juvenile NCL), respectively, were studied with molecular analyses. A total of 252 families affected by childhood NCL were studied. Of 109 families clinically diagnosed as having LINCL, 3 were determined to have either INCL or JNCL by identification of mutation(s) in CLN1 or CLN3. Six families diagnosed initially as having JNCL were found to have LINCL based on the finding of mutations in the CLN2 gene. In addition, several novel mutations were identified. Clinical and genetic heterogeneity of LINCL was demonstrated in nine LINCL families studied.
References
Feb 15, 1992·American Journal of Medical Genetics·K E WisneiwskiF Connell
Feb 15, 1992·American Journal of Medical Genetics·D N PalmerR D Jolly
Jun 15, 1990·The Biochemical Journal·I M FearnleyD N Palmer
May 1, 1990·Neuropediatrics·R RaininkoJ Palo
Jan 1, 1974·Journal of Neuropathology and Experimental Neurology·W Zeman
Jan 1, 1983·Neurobiology of Aging·D ArmstrongN Koppang
Nov 1, 1995·Journal of Child Neurology·S L VanhanenM Haltia
Oct 1, 1996·Molecular and Chemical Neuropathology·V V Prasad, R K Pullarkat
Nov 1, 1996·Pediatric Neurology·B PetersenH I Huppertz
Apr 1, 1997·Human Molecular Genetics·J D SharpR E Williams
Feb 1, 1997·Neuropediatrics·J A Rider, D L Rider
Mar 7, 1998·Human Genetics·N ZhongW T Brown
Jul 8, 1998·Genomics·C G LiuP Lobel
Jul 14, 1998·Nature Genetics·M SavukoskiL Peltonen
Oct 27, 1998·Clinical Genetics·N ZhongW T Brown
Apr 7, 1999·Molecular Genetics and Metabolism·K E WisniewskiN Zhong
Apr 7, 1999·Molecular Genetics and Metabolism·J D SharpR E Williams
Apr 7, 1999·Molecular Genetics and Metabolism·R B WheelerR M Gardiner
Apr 27, 1999·Clinica Chimica Acta; International Journal of Clinical Chemistry·M A JunaidR K Pullarkat
May 13, 1999·Neuroscience Letters·M A Junaid, R K Pullarkat
Jun 5, 1999·Molecular Genetics and Metabolism·J M HartikainenN Zhong
Jul 17, 1999·Journal of Inherited Metabolic Disease·M J Bennett, S L Hofmann
Oct 3, 1999·Nature Genetics·S RantaA E Lehesjoki
Sep 13, 2000·Neurogenetics·M G SpillantiniM Goedert
Sep 26, 2000·Molecular Genetics and Metabolism·N Zhong
Nov 10, 2000·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·K E WisniewskiN Zhong
Jan 6, 2001·Genetic Testing·N A ZhongW T Brown
Nov 5, 1963·Acta Neuropathologica·W ZEMAN, S DONAHUE
Citations
Jun 21, 2005·Neurogenetics·Sara E MoleHans H Goebel
May 23, 2003·The New England Journal of Medicine·Kim L McBride
Oct 14, 2008·Neurogenetics·E StogmannA Zimprich
Nov 1, 2007·Expert Opinion on Medical Diagnostics·Amanda L GettyDavid A Pearce
Sep 7, 2004·Annals of Neurology·Angela SchulzRose-Mary Boustany
Jan 17, 2012·Brain & Development·Xingzhi ChangJiong Qin
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Ping YuJia Qu
Oct 13, 2011·Human Mutation·Maria KousiSara E Mole
May 25, 2006·Journal of Neuroscience Methods·Adam R LemanPaul G Rothberg
Dec 26, 2012·Gene·Romina KohanInés Noher de Halac
Sep 26, 2000·Molecular Genetics and Metabolism·N Zhong
Oct 7, 2006·Biochimica Et Biophysica Acta·Jonathan D CooperHannah M Mitchison
Feb 22, 2017·Clinical Genetics·W RamadanF S Alkuraya
Jul 27, 2012·Journal of Child Neurology·María S Pérez-PoyatoMontserrat Milá
Jul 11, 2013·Journal of Child Neurology·Elizabeth Kriscenski-PerryDavid A Pearce
Jul 10, 2019·Human Mutation·Emily GardnerSara E Mole
Nov 28, 2001·Current Opinion in Neurology·H M Mitchison, S E Mole
Mar 5, 2004·Brain Pathology·Sara E Mole
Nov 20, 2019·JIMD Reports·Abdulhakim JilaniSaadet Mercimek-Andrews
Dec 29, 2020·Journal of Child Neurology·Eva WibbelerAngela Schulz
Dec 30, 2014·Disease Models & Mechanisms·Jonathan E Phillips, Richard H Gomer
Jun 14, 2021·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Didem ArdicliMeral Topcu
Aug 29, 2021·Journal of Inherited Metabolic Disease·Margaux C MastenJonathan W Mink