{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T15:21:47Z","timestamp":1747149707791,"version":"3.40.5"},"reference-count":31,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,1,25]],"date-time":"2022-01-25T00:00:00Z","timestamp":1643068800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100016062","name":"Stichting Metakids","doi-asserted-by":"publisher","award":["project number 2016\u2010063"],"award-info":[{"award-number":["project number 2016\u2010063"]}],"id":[{"id":"10.13039\/100016062","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004243","name":"Prinses Beatrix Spierfonds","doi-asserted-by":"publisher","award":["project number","W.F16\u201003","W.OR16\u201007"],"award-info":[{"award-number":["project number","W.F16\u201003","W.OR16\u201007"]}],"id":[{"id":"10.13039\/501100004243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001826","name":"ZonMw","doi-asserted-by":"publisher","award":["Grant number","152001005"],"award-info":[{"award-number":["Grant number","152001005"]}],"id":[{"id":"10.13039\/501100001826","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Our objective was to investigate brain structure, cerebral vasculature, and cognitive function in a cohort of patients with late\u2010onset Pompe disease, with particular reference to the differences from those with the classic infantile phenotype, where extensive white\u2010matter abnormalities (WMA) and impaired cognition on long\u2010term enzyme treatment are reported in a subset of patients. Brain imaging (T1, T2, T2 fluid\u2010attenuated inversion recovery, susceptibility\u2010weighted images, and magnetic resonance angiography\u2013time of flight) was combined with extensive cognitive testing of general intelligence (Wechsler IQ Test, Montreal Cognitive Assessment [MoCA]) and specific neuropsychological domains (verbal fluency, cognitive flexibility, attention, memory, and visuospatial abilities). We included 19 patients with late\u2010onset Pompe disease (age range 11\u201056\u2009years). Two patients showed mild punctate WMA within normal range for age, with a Fazekas score (FS) of 1 to 2. Magnetic resonance angiography revealed a slight vertebrobasilar dolichoectasia in two patients yet did not show any aneurysms or vascular dissections. Most patients had age\u2010adjusted scores within the normal range for the Wechsler index scores (verbal comprehension, perceptual reasoning, working memory, and processing speed) and combined total intelligence (IQ) score (median 101, interquartile range 91\u2010111; one patient had a below\u2010average score for total IQ) as well as for the specific domains verbal fluency, attention, and memory. A subset of patients performed suboptimally on the Rey Complex Figure Test (9\/14 patients) or cube\u2010copying\/clock\u2010drawing test of the MoCA (8\/10 patients). We therefore concluded that our study showed no brain abnormalities, other than minor microvascular lesions considered within normal range for age, nor general cognitive impairment in late\u2010onset Pompe patients. These findings are in sharp contrast with the widespread WMA and cognitive problems found in some classic infantile patients.<\/jats:p>","DOI":"10.1002\/jimd.12469","type":"journal-article","created":{"date-parts":[[2021,12,20]],"date-time":"2021-12-20T11:44:59Z","timestamp":1640000699000},"page":"493-501","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Is the brain involved in patients with late\u2010onset Pompe disease?"],"prefix":"10.1002","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0948-7313","authenticated-orcid":false,"given":"Jan J. A.","family":"van den Dorpel","sequence":"first","affiliation":[{"name":"Department of Pediatrics Erasmus MC, University Medical Center Rotterdam, Center for Lysosomal and Metabolic Diseases  Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Willemijn M. C.","family":"van der Vlugt","sequence":"additional","affiliation":[{"name":"Department of Neurology Erasmus MC, University Medical Center Rotterdam  Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marjolein H. G.","family":"Dremmen","sequence":"additional","affiliation":[{"name":"Department of Radiology Erasmus MC, University Medical Center Rotterdam  Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryan","family":"Muetzel","sequence":"additional","affiliation":[{"name":"Department of Child and Adolescent Psychiatry\/Psychology Erasmus MC, University Medical Center Rotterdam  Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esther","family":"van den Berg","sequence":"additional","affiliation":[{"name":"Department of Neurology Erasmus MC, University Medical Center Rotterdam  Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roos","family":"Hest","sequence":"additional","affiliation":[{"name":"Department of Neurology Erasmus MC, University Medical Center Rotterdam  Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joni","family":"de Kriek","sequence":"additional","affiliation":[{"name":"Department of Neurology Erasmus MC, University Medical Center Rotterdam  Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esther","family":"Brusse","sequence":"additional","affiliation":[{"name":"Department of Neurology Erasmus MC, University Medical Center Rotterdam, Center for Lysosomal and Metabolic Diseases  Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pieter A.","family":"van Doorn","sequence":"additional","affiliation":[{"name":"Department of Neurology Erasmus MC, University Medical Center Rotterdam, Center for Lysosomal and Metabolic Diseases  Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ans T.","family":"van der Ploeg","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Erasmus MC, University Medical Center Rotterdam, Center for Lysosomal and Metabolic Diseases  Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johanna M. P.","family":"van den Hout","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Erasmus MC, University Medical Center Rotterdam, Center for Lysosomal and Metabolic Diseases  Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadine A. M. E.","family":"van der Beek","sequence":"additional","affiliation":[{"name":"Department of Neurology Erasmus MC, University Medical Center Rotterdam, Center for Lysosomal and Metabolic Diseases  Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,1,25]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2005.11.033"},{"volume-title":"The Online Metabolic & Molecular Bases of Inherited Disease (OMMBID)","year":"2018","author":"Reuser AJ","key":"e_1_2_11_3_1"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.112.2.332"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.13740"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000009979"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2017.10.005"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000198776.53007.2c"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-88"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.21037\/atm.2019.04.49"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-015-9913-x"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.13835"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-017-8601-1"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2019.05.007"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-01353-4"},{"key":"e_1_2_11_16_1","unstructured":"VerhageF.Intelligentie en leeftijd bij volwassenen en bejaarden [Dissertation]. Assen the Netherlands: Van Gorcum; 1964."},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1159\/000117270"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.55.10.967"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.149.2.351"},{"volume-title":"Wechsler Intelligence Scale for Adults","year":"1997","author":"Wechsler D","key":"e_1_2_11_20_1"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03078128"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-4679(198707)43:4<402::AID-JCLP2270430411>3.0.CO;2-E"},{"volume-title":"D2: aandachts\u2010en concentratietest","year":"2014","author":"Brickenkamp R","key":"e_1_2_11_23_1"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1017\/S1355617705050344"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/s100720200003"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1052-3057(10)80095-3"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa070972"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2003.022012"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2020.10.009"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000313367.09469.13"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2006.07.215"},{"key":"e_1_2_11_32_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-013-9667-2"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12469","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jimd.12469","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12469","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T08:03:06Z","timestamp":1692777786000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jimd.12469"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1,25]]},"references-count":31,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022,5]]}},"alternative-id":["10.1002\/jimd.12469"],"URL":"https:\/\/doi.org\/10.1002\/jimd.12469","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"type":"print","value":"0141-8955"},{"type":"electronic","value":"1573-2665"}],"subject":[],"published":{"date-parts":[[2022,1,25]]},"assertion":[{"value":"2021-06-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-12-14","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-01-25","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}