{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Schoenmakers DH"],"funding":["DFG","Medicijn voor de Maatschappij/Nationale postcode Loterij"],"pagination":["1999-2009"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9735365"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["9(12)"],"pubmed_abstract":["<h4>Objectives</h4>Metachromatic leukodystrophy (MLD) has characteristic white matter (WM) changes on brain MRI, which often trigger biochemical and genetic confirmation of the diagnosis. In early or pre-symptomatic disease stages, these typical MRI changes might be absent, hampering early diagnosis. This study aims to describe the characteristics of MRI WM abnormalities at diagnosis, related to clinical presentation.<h4>Methods</h4>We retrospectively reviewed brain MRIs of MLD patients followed in 2 centers at the time of diagnosis regarding MLD MRI score and presence of tigroid pattern. In addition, MLD subtype, symptom status, CNS/PNS phenotype, motor/cognitive/mixed phenotype, and the presence of CNS symptoms were evaluated.<h4>Results</h4>We included 104 brain MRIs from patients with "],"journal":["Annals of clinical and translational neurology"],"pubmed_title":["Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy."],"pmcid":["PMC9735365"],"funding_grant_id":["GR4688/2-1","GR4688/2‐1"],"pubmed_authors":["Bender B","van der Knaap MS","Wolf NI","Schoenmakers DH","Krageloh-Mann I","Beerepoot S","Elgun S","Groeschel S"],"additional_accession":[]},"is_claimable":false,"name":"Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy.","description":"<h4>Objectives</h4>Metachromatic leukodystrophy (MLD) has characteristic white matter (WM) changes on brain MRI, which often trigger biochemical and genetic confirmation of the diagnosis. In early or pre-symptomatic disease stages, these typical MRI changes might be absent, hampering early diagnosis. This study aims to describe the characteristics of MRI WM abnormalities at diagnosis, related to clinical presentation.<h4>Methods</h4>We retrospectively reviewed brain MRIs of MLD patients followed in 2 centers at the time of diagnosis regarding MLD MRI score and presence of tigroid pattern. In addition, MLD subtype, symptom status, CNS/PNS phenotype, motor/cognitive/mixed phenotype, and the presence of CNS symptoms were evaluated.<h4>Results</h4>We included 104 brain MRIs from patients with ","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Dec","modification":"2026-05-28T06:00:57.084Z","creation":"2024-11-13T23:24:13.859Z"},"accession":"S-EPMC9735365","cross_references":{"pubmed":["36334091"],"doi":["10.1002/acn3.51692"]}}