{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,27]],"date-time":"2025-07-27T07:30:55Z","timestamp":1753601455107},"reference-count":19,"publisher":"Japanese Society of Internal Medicine","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intern. Med."],"published-print":{"date-parts":[[2014]]},"DOI":"10.2169\/internalmedicine.53.1932","type":"journal-article","created":{"date-parts":[[2014,6,16]],"date-time":"2014-06-16T12:43:02Z","timestamp":1402922582000},"page":"1377-1380","source":"Crossref","is-referenced-by-count":10,"title":["Hereditary Diffuse Leukoencephalopathy with Spheroids Characterized by Spastic Hemiplegia Preceding Mental Impairment"],"prefix":"10.2169","volume":"53","author":[{"given":"Fukiko","family":"Kitani-Morii","sequence":"first","affiliation":[{"name":"Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Kasai","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kei","family":"Tomonaga","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kozo","family":"Saito","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ikuko","family":"Mizuta","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akira","family":"Yoshioka","sequence":"additional","affiliation":[{"name":"Department of Clinical Research, National Hospital Organization Maizuru Medical Center, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masanori","family":"Nakagawa","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Japan"},{"name":"North Medical Center, Kyoto Prefectural University of Medicine, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshiki","family":"Mizuno","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"962","reference":[{"key":"1","unstructured":"1. Sundel C, Zbigniew W. CSF1R-Related Hereditary Diffuse Leukoencephalopathy with Spheroids. In: GeneReviews<sup>TM<\/sup> [Internet]. Seattle (WA). Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, Eds. University of Washington, Seattle, 2013."},{"key":"2","unstructured":"2. Baba Y, Ghetti B, Baker MC, Uitti RJ, Hutton ML, Yamaguchi K. Hereditary diffuse leukoencephalopathy with spheroids: clinical, pathologic and genetic studies of a new kindred. Acta Neuropathol 111: 300-311, 2006."},{"key":"3","unstructured":"3. Rademakers R, Baker M, Nicholson AM, et al. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet 44: 200-205, 2011."},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Tamaoka A, Mochizuki A, Ishii A, Yamaguchi T, Akamatsu M, Takuma H. Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids (HDLS) in early-onset dementia. Rinshou Shinkeigaku (Clin Neurol) 52: 1390-1392, 2012 (in Japanese, Abstract in English).","DOI":"10.5692\/clinicalneurol.52.1390"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Wong JC, Chow TW, Hazrati L. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia can present as frontotemporal dementia syndrome. Dement Geriatr Cogn Disord 32: 150-158, 2011.","DOI":"10.1159\/000331422"},{"key":"6","unstructured":"6. Polman CH, Reingold SC, Banwell B, et al. Diagnostic criteria for multiple sclerosis: 2010 Revisions to the McDonald criteria. Ann Neurol 69: 292-302, 2011."},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Saitoh BY, Yamasaki R, Hayashi S, et al. A case of hereditary diffuse leukoencephalopathy with axonal spheroids caused by a de novo mutation in CSF1R masquerading as primary progressive multiple sclerosis. Mult Scler 19: 1367-1370, 2013.","DOI":"10.1177\/1352458513489854"},{"key":"8","unstructured":"8. Kleinfeld K, Mobley B, Hedera P, Wegner A, Sriram S, Pawate S. Adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia: report of five cases and a new mutation. J Neurol 260: 558-571, 2013."},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Keegan BM, Giannini C, Parisi JE, Lucchinetti CF, Boeve BF, Josephs KA. Sporadic adult-onset leukoencephalopathy with neuroaxonal spheroids mimicking cerebral MS. Neurology 70: 1128-1133, 2008.","DOI":"10.1212\/01.wnl.0000304045.99153.8f"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Inui T, Kawarai T, Fujita K, et al. A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis. J Neurol Sci 234: 192-195, 2013.","DOI":"10.1016\/j.jns.2013.08.020"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. O'Gorman C, Lin R, Stankovich J, Broadley SA. Modelling genetic susceptibility to multiple sclerosis with family data. Neuroepidemiology 40: 1-12, 2013.","DOI":"10.1159\/000341902"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Sundal C, van Gerpen JA, Nicholson AM, et al. MRI characteristics and scoring in HDLS due to CSF1R gene mutations. Neurology 79: 566-574, 2012.","DOI":"10.1212\/WNL.0b013e318263575a"},{"key":"13","unstructured":"13. Mateen FJ, Keegan BM, Krecke K, Parisi JE, Trenerry MR, Pittock SJ. Sporadic leucodystrophy with neuroaxonal spheroids: persistence of DWI changes and neurocognitive profiles: a case study. J Neurol Neurosurg Psychiatry 81: 619-622, 2010."},{"key":"14","unstructured":"14. Sundal C, J&ouml;nsson L, Ljungberg M, et al. Different stages of white matter changes in the original HDLS family revealed by advanced MRI techniques. J Neuroimaging (in press)."},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Maillart E, Rousseau A, Galanaud D, et al. Rapid onset frontal leukodystrophy with decreased diffusion coefficient and neuroaxonal spheroids. J Neurol 256: 1649-1654, 2009.","DOI":"10.1007\/s00415-009-5172-9"},{"key":"16","unstructured":"16. Boisse L, Islam O, Woulfe J, Ludwin SK, Brunet DG. Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids: novel imaging findings. J Neurol Neurosurg Psychiatry 81: 313-314, 2010."},{"key":"17","unstructured":"17. Lin W, Wszolek Z, Dickson D. Hereditary diffuse leukoencephalopathy with spheroids: ultrastructural and immunoelectron microscopic studies. Int J Clin Exp Pathol 3: 665-674, 2010."},{"key":"18","unstructured":"18. Kono K, Okano Y, Nakayama K, et al. Diffusion-weighted MR imaging in patients with phenylketonuria: relationship between serum phenylalanine levels and ADC values in cerebral white matter. Radiology 236: 630-636, 2005."},{"key":"19","unstructured":"19. Eisele P, Szabo K, Griebe M, et al. Reduced diffusion in a subset of acute MS lesions: a serial multiparametric MRI study. AJNR Am J Neuroradiol 33: 1369-1373, 2012."}],"container-title":["Internal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/53\/12\/53_53.1932\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,5,19]],"date-time":"2021-05-19T17:51:35Z","timestamp":1621446695000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/53\/12\/53_53.1932\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014]]},"references-count":19,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2014]]}},"URL":"https:\/\/doi.org\/10.2169\/internalmedicine.53.1932","relation":{},"ISSN":["0918-2918","1349-7235"],"issn-type":[{"value":"0918-2918","type":"print"},{"value":"1349-7235","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014]]}}}