{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T10:30:59Z","timestamp":1787740259841,"version":"build-2784847793"},"reference-count":20,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2025,2,28]],"date-time":"2025-02-28T00:00:00Z","timestamp":1740700800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Krabbe disease (KD), or globoid cell leukodystrophy, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in galactocerebrosidase (GALC), leading to psychosine (galactosylsphingosine) accumulation and myelin damage. The natural history of the attenuated form is poorly understood, but it typically presents with spastic paraparesis, progressing more slowly than the early\u2010onset or infantile variant. Diagnosis relies on a high index of clinical suspicion, imaging studies, biochemistry, and molecular analysis. Magnetic resonance imaging (MRI) demonstrates characteristic corticospinal tract involvement, while cerebrospinal fluid analysis can reveal elevated protein levels. We present a case of late\u2010onset KD in a 55\u2010year\u2010old male with a novel pathogenic <jats:italic>GALC<\/jats:italic> variant, aiming to highlight the features and investigation findings that should prompt consideration of the diagnosis. In addition, we describe the course of illness, emphasizing the importance of multi\u2010disciplinary team (MDT) input in patient care and the role of novel blood\u2010based and imaging biomarkers.<\/jats:p>","DOI":"10.1002\/ajmg.a.64031","type":"journal-article","created":{"date-parts":[[2025,3,12]],"date-time":"2025-03-12T05:26:07Z","timestamp":1741757167000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Natural History and Diagnostic Findings in an Adult Man Diagnosed With Attenuated Krabbe Disease"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3387-9210","authenticated-orcid":false,"given":"Eamon P.","family":"McCarron","sequence":"first","affiliation":[{"name":"Adult Inherited Metabolic Diseases, Salford Care Organization, Northern Care Alliance NHS Foundation Trust  Salford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Oldham","sequence":"additional","affiliation":[{"name":"Adult Inherited Metabolic Diseases, Salford Care Organization, Northern Care Alliance NHS Foundation Trust  Salford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amit","family":"Herwadkar","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology Salford Care Organization, Northern Care Alliance NHS Foundation Trust  Salford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Jenkinson","sequence":"additional","affiliation":[{"name":"Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Campbell","sequence":"additional","affiliation":[{"name":"Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kate","family":"Neal","sequence":"additional","affiliation":[{"name":"Willink Biochemical Genetics Laboratory, St Mary's Hospital, Manchester University NHS Foundation Trust  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather J.","family":"Church","sequence":"additional","affiliation":[{"name":"Willink Biochemical Genetics Laboratory, St Mary's Hospital, Manchester University NHS Foundation Trust  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James A.","family":"Cooper","sequence":"additional","affiliation":[{"name":"Willink Biochemical Genetics Laboratory, St Mary's Hospital, Manchester University NHS Foundation Trust  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karolina M.","family":"Stepien","sequence":"additional","affiliation":[{"name":"Adult Inherited Metabolic Diseases, Salford Care Organization, Northern Care Alliance NHS Foundation Trust  Salford UK"},{"name":"Division of Cardiovascular Sciences University of Manchester  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,2,28]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35624"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010018\u20100872\u20109"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010012\u20109560\u20104"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2012.02.023"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2017.05.015"},{"issue":"8","key":"e_1_2_8_7_1","first-page":"1478","article-title":"MR Imaging and Proton MR Spectroscopy in Adult Krabbe Disease","volume":"21","author":"Farina L.","year":"2000","journal-title":"AJNR. American Journal of Neuroradiology"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0228883"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymthe.2022.09.017"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010020\u201001489\u20103"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/jon.12502"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.msard.2021.103337"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2023.04.001"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.25259\/JCIS\u201018\u20102019"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.211"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/jnr.23781"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/jnr.23905"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474\u20104422(17)30470\u20102"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr\u20102015\u2010210625"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.35"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2020005477"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.64031","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,6]],"date-time":"2025-06-06T04:32:37Z","timestamp":1749184357000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.64031"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,28]]},"references-count":20,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2025,7]]}},"alternative-id":["10.1002\/ajmg.a.64031"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.64031","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,2,28]]},"assertion":[{"value":"2024-12-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-02-14","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-02-28","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e64031"}}