PMID: 9535296Apr 16, 1998Paper

Palmitoyl-protein thioesterase deficiency in a novel granular variant of LINCL

Pediatric Neurology
K E WisniewskiS L Hofmann

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

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Citations

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
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
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 1, 2019·Molecular Genetics & Genomic Medicine·Myriam MirzaDanielle M Kerkovich
May 18, 2021·Pediatric Neurology·Erika F AugustineSharon King

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Batten Disease is a group of nervous system disorders known as neuronal ceroid lipofuscinosis. This feed focuses on neurobiological and neuropathological aspects of this disease.