{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T22:15:09Z","timestamp":1790720109168,"version":"4.1.0"},"reference-count":74,"publisher":"Georg Thieme Verlag KG","issue":"04","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Magnetic resonance imaging (MRI) is the gold standard for the detection of cerebral lesions in X-linked adrenoleukodystrophy (ALD). ALD is one of the most common peroxisomal disorders and is characterized by a defect in degradation of very long chain fatty acids (VLCFA), resulting in accumulation of VLCFA in plasma and tissues. The clinical spectrum of ALD is wide and includes adrenocortical insufficiency, a slowly progressive myelopathy in adulthood, and cerebral demyelination in a subset of male patients. Cerebral demyelination (cerebral ALD) can be treated with hematopoietic cell transplantation (HCT) but only in an early (pre- or early symptomatic) stage and therefore active MRI surveillance is recommended for male patients, both pediatric and adult. Although structural MRI of the brain can detect the presence and extent of cerebral lesions, it does not predict if and when cerebral demyelination will occur. There is a great need for imaging techniques that predict onset of cerebral ALD before lesions appear. Also, imaging markers for severity of myelopathy as surrogate outcome measure in clinical trials would facilitate drug development. New quantitative MRI techniques are promising in that respect. This review focuses on structural and quantitative imaging techniques\u2014including magnetic resonance spectroscopy, diffusion tensor imaging, MR perfusion imaging, magnetization transfer (MT) imaging, neurite orientation dispersion and density imaging (NODDI), and myelin water fraction imaging\u2014used in ALD and their role in clinical practice and research opportunities for the future.<\/jats:p>","DOI":"10.1055\/s-0041-1730937","type":"journal-article","created":{"date-parts":[[2021,6,30]],"date-time":"2021-06-30T23:00:59Z","timestamp":1625094059000},"page":"252-260","source":"Crossref","is-referenced-by-count":24,"title":["Imaging in X-Linked Adrenoleukodystrophy"],"prefix":"10.1055","volume":"52","author":[{"given":"Stephanie I.W.","family":"van de Stadt","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam Neuroscience, Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene C.","family":"Huffnagel","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam Neuroscience, Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bela R.","family":"Turk","sequence":"additional","affiliation":[{"name":"Departments of Neurology and Pediatrics, Moser Center for Leukodystrophies, Kennedy Krieger Institute, Johns Hopkins University, Baltimore, Maryland, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjo S.","family":"van der Knaap","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam Neuroscience, Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Engelen","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam Neuroscience, Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2021,6,30]]},"reference":[{"issue":"24","key":"ref1","doi-asserted-by":"crossref","first-page":"2227","DOI":"10.1212\/WNL.0000000000001074","article-title":"Frequent occurrence of cerebral demyelination in adrenomyeloneuropathy","volume":"83","author":"M de Beer","year":"2014","journal-title":"Neurology"},{"issue":"06","key":"ref2","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1001\/jamaneurol.2017.0013","article-title":"Neurocognitive trajectory of boys who received a hematopoietic stem cell transplant at an early stage of childhood cerebral 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