{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,5]],"date-time":"2026-11-05T14:26:34Z","timestamp":1793888794892,"version":"4.8.0"},"reference-count":41,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,3,29]],"date-time":"2020-03-29T00:00:00Z","timestamp":1585440000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To characterize the spectrum of neurologic involvement in Erdheim\u2013Chester Disease (ECD), a treatable inflammatory neoplasm of histiocytes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Sixty\u2010two patients with ECD were prospectively enrolled in a natural history study that facilitated collection of clinical, imaging, laboratory, neurophysiologic, and pathologic data.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Ninety\u2010four percent of the patients had neurologic abnormalities on examination or imaging, and 22% had neurologic symptoms as the initial presentation of ECD. The most common neurologic findings were cognitive impairment, peripheral neuropathy, pyramidal tract signs, cranial nerve involvement, and cerebellar ataxia. Imaging revealed atrophy and demyelination along with focal lesions that were located throughout the nervous system, dura, and extra\u2010axial structures. The\n                      <jats:italic>BRAF<\/jats:italic>\n                      V600E variant correlated with cerebral atrophy. Brain pathology revealed lipid\u2010laden, phagocytic macrophages (histiocytes) accompanied by demyelination and axonal degeneration.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>In patients with ECD, neurologic morbidity is common and contributes significantly to disability. Since neurologic symptoms can be the presenting feature of ECD and, given the mean delay in ECD diagnosis is 4.2\u00a0years, it is critical that neurologists consider of ECD and other histiocytosis in patients with inflammatory, infectious, or neoplastic\u2010appearing white matter. Furthermore, given the broad spectrum of neurologic involvement, neurologists have an important role in a team of specialists treating ECD patients.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/acn3.51014","type":"journal-article","created":{"date-parts":[[2020,3,29]],"date-time":"2020-03-29T20:28:25Z","timestamp":1585513705000},"page":"497-506","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":43,"title":["Neurological manifestations of Erdheim\u2013Chester Disease"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1021-0952","authenticated-orcid":false,"given":"Louisa C.","family":"Boyd","sequence":"first","affiliation":[{"name":"NHGRI NIH Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin J.","family":"O\u2019Brien","sequence":"additional","affiliation":[{"name":"NHGRI NIH Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neval","family":"Ozkaya","sequence":"additional","affiliation":[{"name":"Pathology NIH Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanya","family":"Lehky","sequence":"additional","affiliation":[{"name":"NINDS NIH Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Avner","family":"Meoded","sequence":"additional","affiliation":[{"name":"Radiology Texas Childrens Institute Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernadette R.","family":"Gochuico","sequence":"additional","affiliation":[{"name":"NHGRI NIH Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fady","family":"Hannah\u2010Shmouni","sequence":"additional","affiliation":[{"name":"NICHD NIH Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0927-5855","authenticated-orcid":false,"given":"Avindra","family":"Nath","sequence":"additional","affiliation":[{"name":"NINDS NIH Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camilo","family":"Toro","sequence":"additional","affiliation":[{"name":"NHGRI NIH Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William A.","family":"Gahl","sequence":"additional","affiliation":[{"name":"NHGRI NIH Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juvianee I.","family":"Estrada\u2010Veras","sequence":"additional","affiliation":[{"name":"Pediatrics Walter Reed National Military Medical Center Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1926-4105","authenticated-orcid":false,"given":"Rahul H.","family":"Dave","sequence":"additional","affiliation":[{"name":"NINDS NIH Bethesda Maryland"},{"name":"Inova Fairfax Medical Campus Fairfax Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,3,29]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01942684"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1586\/1744666X.2015.1060857"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2016001784"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2014-03-561381"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1634\/theoncologist.2018-0295"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.4103\/neuroindia.NI_1120_15"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nrl.2014.01.010"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/practneurol-2012-000266"},{"key":"e_1_2_8_10_1","first-page":"397","article-title":"Neurologic presentation of Erdheim\u2010Chester disease","volume":"40","author":"Brodkin CL","year":"2006","journal-title":"Neurol Neurochir Pol"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.66.1.72"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.critrevonc.2015.02.004"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2010-06-294108"},{"key":"e_1_2_8_14_1","unstructured":"Erdheim\u2010Chester Global Alliance. 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