{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,18]],"date-time":"2026-01-18T13:50:00Z","timestamp":1768744200512,"version":"3.49.0"},"reference-count":13,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2022,10,6]],"date-time":"2022-10-06T00:00:00Z","timestamp":1665014400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pathology International"],"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Krabbe disease is a lysosomal storage disease caused by a deficiency of the galactocerebrosidase (GALC) enzyme, which leads to demyelination of the central and peripheral nervous systems. Almost all patients with Krabbe disease are infants, and this is the first report of adult\u2010onset cases that describe pathological findings. Here, we present two autopsy cases: a 73\u2010year\u2010old female and a 2\u2010year\u2010old male. The adult\u2010onset case developed symptoms in her late thirties and was diagnosed by the identification of <jats:italic>GALC<\/jats:italic> D528N and L634S mutations and by T2\u2010weighted magnetic resonance imaging; she had increased signal in the white matter along the pyramidal tract to the bilateral precentral gyrus, as well as from the triangular part to the posterior horn of the lateral ventricle. Microscopically, Kl\u00fcver\u2013Barrera staining was pale in the white matter of the precentral gyrus and occipito\u2010thalamic radiation, and a few globoid cells were observed. The <jats:italic>GALC<\/jats:italic> mutations that were identified in the present adult\u2010onset case do not completely inactivate GALC enzyme activity, resulting in focal demyelination of the brain.<\/jats:p>","DOI":"10.1111\/pin.13275","type":"journal-article","created":{"date-parts":[[2022,10,6]],"date-time":"2022-10-06T12:19:14Z","timestamp":1665058754000},"page":"558-565","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["An autopsy case report of adult\u2010onset Krabbe disease: Comparison with an infantile\u2010onset case"],"prefix":"10.1111","volume":"72","author":[{"given":"Miu","family":"Sasaki","sequence":"first","affiliation":[{"name":"Department of Cancer Pathology, Faculty of Medicine Hokkaido University  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miori","family":"Ebata","sequence":"additional","affiliation":[{"name":"Department of Cancer Pathology, Faculty of Medicine Hokkaido University  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3474-2646","authenticated-orcid":false,"given":"Zen\u2010ichi","family":"Tanei","sequence":"additional","affiliation":[{"name":"Department of Cancer Pathology, Faculty of Medicine Hokkaido University  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshitaka","family":"Oda","sequence":"additional","affiliation":[{"name":"Department of Cancer Pathology, Faculty of Medicine Hokkaido University  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akiko","family":"Hamauchi","sequence":"additional","affiliation":[{"name":"Department of Neurology, Nakamura Memorial Hospital  Sapporo Japan"},{"name":"Department of Internal Medicine &amp; Neurology Takeuchi Clinic, Doushoukai Medical Corporation  Setouchi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoshi","family":"Tanikawa","sequence":"additional","affiliation":[{"name":"Department of Cancer Pathology, Faculty of Medicine Hokkaido University  Sapporo Japan"},{"name":"Institute for Chemical Reaction Design and Discovery (WPI\u2010ICReDD) Hokkaido University  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirokazu","family":"Sugino","sequence":"additional","affiliation":[{"name":"Department of Cancer Pathology, Faculty of Medicine Hokkaido University  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yusuke","family":"Ishida","sequence":"additional","affiliation":[{"name":"Department of Cancer Pathology, Faculty of Medicine Hokkaido University  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takenori","family":"Abe","sequence":"additional","affiliation":[{"name":"Department of Neurology, Nakamura Memorial Hospital  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nobutaka","family":"Arai","sequence":"additional","affiliation":[{"name":"Laboratory of Neuropathology, Tokyo Metropolitan Institute of Medical Science  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuya","family":"Sako","sequence":"additional","affiliation":[{"name":"Department of Neurology, Nakamura Memorial Hospital  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6470-3301","authenticated-orcid":false,"given":"Shinya","family":"Tanaka","sequence":"additional","affiliation":[{"name":"Department of Cancer Pathology, Faculty of Medicine Hokkaido University  Sapporo Japan"},{"name":"Institute for Chemical Reaction Design and Discovery (WPI\u2010ICReDD) Hokkaido University  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,10,6]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt232"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.66.2.302"},{"key":"e_1_2_10_4_1","volume-title":"Greenfield's neuropathology","author":"Love S","year":"2015"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2014.09.046"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0967-5868(02)00302-8"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-01489-3"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.2183\/pjab.79B.1"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.2008.05570.x"},{"key":"e_1_2_10_10_1","first-page":"1145","volume-title":"Textbook of medical physiology","author":"Hall JE","year":"2016"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1105639108"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.11.003"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.3095-15.2016"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.6383-09.2010"}],"container-title":["Pathology International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pin.13275","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pin.13275","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pin.13275","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T08:17:47Z","timestamp":1692692267000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pin.13275"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,10,6]]},"references-count":13,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2022,11]]}},"alternative-id":["10.1111\/pin.13275"],"URL":"https:\/\/doi.org\/10.1111\/pin.13275","archive":["Portico"],"relation":{},"ISSN":["1320-5463","1440-1827"],"issn-type":[{"value":"1320-5463","type":"print"},{"value":"1440-1827","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,10,6]]},"assertion":[{"value":"2022-04-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-09-14","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-10-06","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}