{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T19:14:41Z","timestamp":1790622881871,"version":"4.1.0"},"reference-count":93,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2024,1,25]],"date-time":"2024-01-25T00:00:00Z","timestamp":1706140800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medical Sciences"],"abstract":"<jats:p>Leukodystrophies, a group of rare demyelinating disorders, mainly affect the CNS. Clinical presentation of different types of leukodystrophies can be nonspecific, and thus, imaging techniques like MRI can be used for a more definitive diagnosis. These diseases are characterized as cerebral lesions with characteristic demyelinating patterns which can be used as differentiating tools. In this review, we talk about these MRI study findings for each leukodystrophy, associated genetics, blood work that can help in differentiation, emerging diagnostics, and a follow-up imaging strategy. The leukodystrophies discussed in this paper include X-linked adrenoleukodystrophy, metachromatic leukodystrophy, Krabbe\u2019s disease, Pelizaeus\u2013Merzbacher disease, Alexander\u2019s disease, Canavan disease, and Aicardi\u2013Gouti\u00e8res Syndrome.<\/jats:p>","DOI":"10.3390\/medsci12010007","type":"journal-article","created":{"date-parts":[[2024,1,25]],"date-time":"2024-01-25T08:44:07Z","timestamp":1706172247000},"page":"7","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Leukodystrophy Imaging: Insights for Diagnostic Dilemmas"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-2375-5078","authenticated-orcid":false,"given":"Rajvi N.","family":"Thakkar","sequence":"first","affiliation":[{"name":"College of Medicine, University of Florida, Gainesville, FL 32610, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-4897-2913","authenticated-orcid":false,"given":"Drashti","family":"Patel","sequence":"additional","affiliation":[{"name":"College of Medicine, University of Florida, Gainesville, FL 32610, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-7467-2382","authenticated-orcid":false,"given":"Ivelina P.","family":"Kioutchoukova","sequence":"additional","affiliation":[{"name":"College of Medicine, University of Florida, Gainesville, FL 32610, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raja","family":"Al-Bahou","sequence":"additional","affiliation":[{"name":"College of Medicine, University of Florida, Gainesville, FL 32610, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pranith","family":"Reddy","sequence":"additional","affiliation":[{"name":"College of Medicine, Florida Atlantic University, Boca Raton, FL 33431, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Devon T.","family":"Foster","sequence":"additional","affiliation":[{"name":"College of Medicine, Florida International University, Miami, FL 33199, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6577-4080","authenticated-orcid":false,"given":"Brandon","family":"Lucke-Wold","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, University of Florida, 1600 SW Archer Rd., Gainesville, FL 32610, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,1,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1148\/radiographics.22.3.g02ma01461","article-title":"Leukodystrophy in children: A pictorial review of MR imaging features","volume":"22","author":"Cheon","year":"2002","journal-title":"Radiographics"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1055\/s-0041-1730937","article-title":"Imaging in X-Linked Adrenoleukodystrophy","volume":"52","author":"Huffnagel","year":"2021","journal-title":"Neuropediatrics"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1148\/rg.2019180081","article-title":"Adult Leukodystrophies: A Step-by-Step Diagnostic Approach","volume":"39","author":"Resende","year":"2019","journal-title":"Radiographics"},{"key":"ref_4","first-page":"130","article-title":"Leukodystrophies. 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