Quantitative MR spectroscopic imaging in metachromatic leukodystrophy: value for prognosis and treatment.

Autor:	van Rappard DF; Department of Pediatric Neurology, Center for Childhood White Matter Disorders, VU University Medical Center, Amsterdam, The Netherlands.; Amsterdam Neuroscience, VU University Medical Center Amsterdam, Academic Medical Center, Vrije Universiteit Amsterdam and University of Amsterdam, Amsterdam, The Netherlands., Klauser A; Department of Radiology and Medical Informatics, University of Geneva, Geneva, Switzerland., Steenweg ME; Department of Pediatric Neurology, Center for Childhood White Matter Disorders, VU University Medical Center, Amsterdam, The Netherlands.; Amsterdam Neuroscience, VU University Medical Center Amsterdam, Academic Medical Center, Vrije Universiteit Amsterdam and University of Amsterdam, Amsterdam, The Netherlands., Boelens JJ; Department of Pediatrics, Blood and Marrow Transplantation Program, University Medical Center Utrecht, Utrecht, The Netherlands., Bugiani M; Department of Pediatric Neurology, Center for Childhood White Matter Disorders, VU University Medical Center, Amsterdam, The Netherlands.; Amsterdam Neuroscience, VU University Medical Center Amsterdam, Academic Medical Center, Vrije Universiteit Amsterdam and University of Amsterdam, Amsterdam, The Netherlands.; Department of Pathology, Center for Childhood White Matter Disorders, VU University Medical Center, Amsterdam, The Netherlands., van der Knaap MS; Department of Pediatric Neurology, Center for Childhood White Matter Disorders, VU University Medical Center, Amsterdam, The Netherlands.; Amsterdam Neuroscience, VU University Medical Center Amsterdam, Academic Medical Center, Vrije Universiteit Amsterdam and University of Amsterdam, Amsterdam, The Netherlands., Wolf NI; Department of Pediatric Neurology, Center for Childhood White Matter Disorders, VU University Medical Center, Amsterdam, The Netherlands.; Amsterdam Neuroscience, VU University Medical Center Amsterdam, Academic Medical Center, Vrije Universiteit Amsterdam and University of Amsterdam, Amsterdam, The Netherlands., Pouwels PJW; Amsterdam Neuroscience, VU University Medical Center Amsterdam, Academic Medical Center, Vrije Universiteit Amsterdam and University of Amsterdam, Amsterdam, The Netherlands.; Department of Radiology and Nuclear Medicine, VU University Medical Center, Amsterdam, The Netherlands.
Jazyk:	angličtina
Zdroj:	Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2018 Jan; Vol. 89 (1), pp. 105-111. Date of Electronic Publication: 2017 Sep 09.
DOI:	10.1136/jnnp-2017-316364
Abstrakt:	Objective: To determine whether proton magnetic resonance spectroscopic imaging is useful in predicting clinical course of patients with metachromatic leukodystrophy (MLD), an inherited white matter disorder treatable with haematopoietic cell transplantation (HCT). Methods: 21 patients with juvenile or adult MLD (12 HCT-treated) were compared with 16 controls in the same age range. Clinical outcome was determined as good, moderate or poor. Metabolites were quantified in white matter, and significance of metabolite concentrations at baseline for outcome prediction was assessed using logistic regression analysis. Evolution of metabolic changes was assessed for patients with follow-up examinations. Results: In this retrospective study, 16 patients with baseline scans were included, 5 with good, 3 with moderate and 8 with poor outcome, and 16 controls. We observed significant group differences for all metabolite concentrations in white matter (p<0.001). Compared with controls, patients had decreased N-acetylaspartate and glutamate, and increased myo-inositol and lactate, most pronounced in patients with poor outcome (post hoc, all p<0.05). Logistic regression showed complete separation of data. Creatine could distinguish poor from moderate and good outcome, the sum of glutamate and glutamine could distinguish good from moderate and poor outcome, and N-acetylaspartate could distinguish all outcome groups. For 13 patients (8 with baseline scans), one or more follow-up examinations were evaluated, revealing stabilisation or even partial normalisation of metabolites in patients with moderate and good outcome, clearly visible in the ratio of choline/N-acetylaspartate. Conclusion: In MLD, quantitative spectroscopic imaging at baseline is predictive for outcome and aids in determining eligibility for HCT. Competing Interests: Competing interests: None declared. (© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)
Databáze:	MEDLINE
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