Brain Region-Specific Degeneration with Disease Progression in Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2 Disease)

AJNR. American Journal of Neuroradiology
Jonathan P DykeDouglas Ballon

Abstract

Late infantile neuronal ceroid lipofuscinosis (CLN2 disease) is a uniformly fatal lysosomal storage disease resulting from mutations in the CLN2 gene. Our hypothesis was that regional analysis of cortical brain degeneration may identify brain regions that are affected earliest and most severely by the disease. Fifty-two high-resolution 3T MR imaging datasets were prospectively acquired on 38 subjects with CLN2. A retrospective cohort of 52 disease-free children served as a control population. The FreeSurfer software suite was used for calculation of cortical thickness. An increased rate of global cortical thinning in CLN2 versus control subjects was the primary finding in this study. Three distinct patterns were observed across brain regions. In the first, subjects with CLN2 exhibited differing rates of cortical thinning versus age. This was true in 22 and 26 of 34 regions in the left and right hemispheres, respectively, and was also clearly discernable when considering brain lobes as a whole and Brodmann regions. The second pattern exhibited a difference in thickness from healthy controls but with no discernable change with age (9 left hemispheres, 5 right hemispheres). In the third pattern, there was no difference in either t...Continue Reading

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Citations

Aug 29, 2020·AJNR. American Journal of Neuroradiology·A BiswasM Shroff
Jun 21, 2017·Epilepsia·Nicola SpecchioFederico Vigevano
Apr 14, 2020·Therapeutics and Clinical Risk Management·Nicola SpecchioMarina Trivisano
Nov 27, 2020·Drugs·Nicola SpecchioFederico Vigevano
Feb 5, 2021·Expert Review of Neurotherapeutics·Maria Mazurkiewicz-BełdzińskaStéphane Auvin
Jan 1, 2019·Expert Opinion on Orphan Drugs·Jonathan B RosenbergDolan Sondhi
Jun 14, 2021·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Didem ArdicliMeral Topcu
Nov 25, 2018·Lancet Neurology·Sara E MoleAlexander J Smith

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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.