Evaluation of disease progression in INCL by MR spectroscopy

Annals of Clinical and Translational Neurology
Eva H BakerAnil B Mukherjee

Abstract

Infantile neuronal ceroid lipofuscinosis (INCL) is a devastating neurodegenerative storage disease caused by palmitoyl-protein thioesterase-1 deficiency, which impairs degradation of palmitoylated proteins (constituents of ceroid) by lysosomal hydrolases. Consequent lysosomal ceroid accumulation leads to neuronal injury. As part of a pilot study to evaluate treatment benefits of cysteamine bitartrate and N-acetylcysteine, we quantitatively measured brain metabolite levels using magnetic resonance spectroscopy (MRS). A subset of two patients from a larger treatment and follow-up study underwent serial quantitative single-voxel MRS examinations of five anatomical sites. Three echo times were acquired in order to estimate metabolite T2. Measured metabolite levels included correction for partial volume of cerebrospinal fluid. Comparison of INCL patients was made to a reference group composed of asymptomatic and minimally symptomatic Niemann-Pick disease type C patients. In INCL patients, N-acetylaspartate (NAA) was abnormally low at all locations upon initial measurement, and further declined throughout the follow-up period. In the cerebrum (affected early in the disease course), choline and myo-inositol were initially elevated and...Continue Reading

References

Jan 1, 1988·American Journal of Medical Genetics. Supplement·J A Rider, D L Rider
Jan 1, 1993·Developmental Neuroscience·A BrandD Leibfritz
Oct 1, 1993·Magnetic Resonance in Medicine : Official Journal of the Society of Magnetic Resonance in Medicine·R KreisB D Ross
Jan 1, 1993·Pediatric Neurology·S Confort-GounyP J Cozzone
Jan 1, 1993·Journal of Inherited Metabolic Disease·P SantavuoriR Raininko
Jul 1, 1997·Developmental Medicine and Child Neurology·S L VanhanenP Santavuori
Mar 24, 1999·Current Problems in Diagnostic Radiology·L D Ma
May 20, 1999·Magnetic Resonance in Medicine : Official Journal of the Society of Magnetic Resonance in Medicine·N LundbomG Di Chiro
Dec 21, 2000·The European Journal of Neuroscience·L ArckensG A Orban
Jun 19, 2001·NMR in Biomedicine·S W Provencher
Nov 22, 2001·Proceedings of the National Academy of Sciences of the United States of America·P GuptaS L Hofmann
Feb 12, 2002·Journal of Magnetic Resonance Imaging : JMRI·Alena HorskáPeter B Barker
Sep 5, 2002·Magnetic Resonance in Medicine : Official Journal of the Society of Magnetic Resonance in Medicine·A HorskáP B Barker
Mar 5, 2004·Brain Pathology·Hans H Goebel, Krystyna E Wisniewski
Mar 11, 2005·Brain : a Journal of Neurology·Radhika SrinivasanDaniel Pelletier
Aug 16, 2006·Biochimica Et Biophysica Acta·Matti Haltia
Jan 30, 2007·Magnetic Resonance in Medicine : Official Journal of the Society of Magnetic Resonance in Medicine·Lazar FleysherOded Gonen
Oct 2, 2007·NMR in Biomedicine·Lijing XinRolf Gruetter
Mar 1, 2008·Journal of Magnetic Resonance Imaging : JMRI·Eva H BakerAlena Horská
May 6, 2009·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Nicole M YanjaninForbes D Porter
Nov 28, 2012·The Journal of Cell Biology·Frances M PlattAarnoud C van der Spoel
Dec 4, 2012·Biochimica Et Biophysica Acta·Glenn W AndersonAlessandro Simonati
Apr 2, 2013·Biochimica Et Biophysica Acta·Varun WarrierSara E Mole
Apr 23, 2013·Biochimica Et Biophysica Acta·Angela SchulzRuth Williams
May 9, 2013·Journal of Inherited Metabolic Disease·Stephanie M ColognaForbes D Porter
Jun 19, 2013·Current Neurology and Neuroscience Reports·Susan L CotmanKatherine B Sims
Jul 11, 2013·Journal of Child Neurology·Jonathan W MinkJennifer M Kwon
Apr 1, 2014·Brain and Behavior·Reza Bavarsad ShahripourAndrei V Alexandrov
Jan 13, 2015·Annals of Clinical and Translational Neurology·Ashleigh BouchelionAnil B Mukherjee

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Citations

Oct 22, 2016·AJNR. American Journal of Neuroradiology·E H BakerA B Mukherjee
Jan 29, 2020·Current Medical Imaging Reviews·Direnç Özlem Aksoy, Alpay Alkan
Nov 27, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·An N Dang DoForbes D Porter
Jan 7, 2021·Magnetic Resonance in Medicine : Official Journal of the Society of Magnetic Resonance in Medicine·Reyhaneh NosratiRobert Mulkern
Feb 8, 2021·Journal of Inherited Metabolic Disease·Myriam AbdennadherAn N Dang Do

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Clinical Trials Mentioned

NCT00028262

Software Mentioned

Philips SpectroView
LCModel

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