Brain proton magnetic resonance spectroscopy and neuromuscular pathology in a patient with GM1 gangliosidosis

Journal of Child Neurology
Nicola Brunetti-PierriFernando Scaglia

Abstract

The authors report the clinical, neuroradiologic, and neuromuscular pathological findings in a patient with GM1 gangliosidosis. The proton magnetic resonance spectroscopy, previously reported in a single patient with GM1 gangliosidosis, detected a mild reduction of N-acetylaspartate, consistent with relative paucity of axons and neurons and increased levels of myoinositol suggestive of gliotic white matter changes along with the accumulation of an additional compound that could represent either guanidinoacetate or Gal beta 1-6Gal beta 1-4)GlcNAc, an oligosaccharide previously isolated from the urine of GM1 gangliosidosis patients. Although these findings will have to be further confirmed in more patients with GM1 gangliosidosis, they suggest that proton magnetic resonance spectroscopy may provide useful end points to assess the efficacy of novel treatments that could soon become clinically available. Histologically, no significant alterations were found in axons, but there was evidence of redundant and inappropriately folded myelin, which is a feature attributed to disturbed axon-glial interactions.

References

May 30, 1978·Biochemical and Biophysical Research Communications·D A WengerC Wharton
Jul 1, 1992·Pediatric Neurology·E M KayeG Zuniga
Apr 1, 1992·Journal of Child Neurology·G G GasconR E Erwin
Apr 11, 1991·American Journal of Medical Genetics·R D MurnaneD J Prieur
Apr 1, 1990·Magnetic Resonance in Medicine : Official Journal of the Society of Magnetic Resonance in Medicine·D L ArnoldJ Antel
Dec 1, 1990·Brain : a Journal of Neurology·A A Gabreëls-FestenH F Busch
Jan 1, 1987·Acta Neuropathologica·J M VallatD Moulies
Dec 1, 1968·Journal of Neurology, Neurosurgery, and Psychiatry·A D DayanM A Woodhouse
May 31, 1968·Science·S Okada, J S O'Brien
Dec 1, 1993·Magnetic Resonance in Medicine : Official Journal of the Society of Magnetic Resonance in Medicine·S W Provencher
Feb 1, 1994·Brain : a Journal of Neurology·C A DavieW I McDonald
Jan 1, 1996·Pediatric Neurology·N C ChiuR M Boustany
Aug 14, 1999·Journal of Neurocytology·J L DupreeB Popko
Sep 28, 1999·Journal of Neuropathology and Experimental Neurology·R D Folkerth
Dec 14, 1999·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·R D FolkerthE M Kaye
Jun 13, 2002·Proceedings of the National Academy of Sciences of the United States of America·Alka A VyasRonald L Schnaar
Oct 3, 2002·Journal of Neurochemistry·Stephen K FisherBernard W Agranoff
Dec 17, 2003·Proceedings of the National Academy of Sciences of the United States of America·Junichiro MatsudaYoshiyuki Suzuki
Mar 26, 2004·Acta Neuropathologica·J Patrick van der VoornJames M Powers
Mar 29, 2005·Journal of Child Neurology·Aithala GururajAlessandra d'Azzo
Oct 21, 2006·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Ilknur ErolS Vefa Yildirim

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Citations

Feb 27, 2017·Molecular Therapy : the Journal of the American Society of Gene Therapy·Heather L Gray-EdwardsDouglas R Martin
Feb 20, 2015·ASN Neuro·Karie A HeineckeThomas N Seyfried
Dec 3, 2009·Magnetic Resonance in Medicine : Official Journal of the Society of Magnetic Resonance in Medicine·Karl YoungNorbert Schuff
Apr 7, 2010·Indian Journal of Plastic Surgery : Official Publication of the Association of Plastic Surgeons of India·Visweswar BhattacharyaSiddhartha Bhattacharya
Dec 10, 2015·American Journal of Medical Genetics. Part a·Debra S RegierCynthia J Tifft
Nov 28, 2015·Neurochemical Research·Erica B SherryIn-Young Choi
Apr 17, 2021·The Application of Clinical Genetics·Allisandra K RhaDouglas R Martin
Jan 24, 2020·Molecular Therapy. Methods & Clinical Development·Heather L Gray-EdwardsDouglas R Martin
Jun 6, 2008·Molecular Genetics and Metabolism·Nicola Brunetti-Pierri, Fernando Scaglia

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