{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,4]],"date-time":"2025-11-04T18:46:11Z","timestamp":1762281971914,"version":"build-2065373602"},"reference-count":11,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,2,18]],"date-time":"2016-02-18T00:00:00Z","timestamp":1455753600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["P01 AG14359","P30 AG 010133"],"award-info":[{"award-number":["P01 AG14359","P30 AG 010133"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000030","name":"Centers for Disease Control and Prevention","doi-asserted-by":"publisher","award":["1U51CK000100"],"award-info":[{"award-number":["1U51CK000100"]}],"id":[{"id":"10.13039\/100000030","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003122","name":"Ferring","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003122","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2016,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Parkinsonism\u2010dystonia is rare in carriers of the prion protein (PrP) gene (\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">PRNP<\/jats:styled-content>\n                    <\/jats:italic>\n                    ) proline\u2010to\u2010leucine substitution at codon 102 (P102L mutation). The severity and distribution of PrP deposition may influence the clinical presentation. The authors present such clinicopathological correlation in a 56\u2010year\u2010old man who had a\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">PRNP<\/jats:styled-content>\n                    <\/jats:italic>\n                    P102L mutation associated with a phenotype characterized by rapidly progressing parkinsonism\u2010dystonia. The patient was studied clinically (videotaped examinations, brain magnetic resonance images [\n                    <jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content>\n                    s]) and was analyzed using molecular genetics (gene sequence analysis) and neuropathology (histology, immunohistochemistry) during his 7\u2010month disease course. The patient had parkinsonism, apraxia, aphasia, and dystonia, which progressed rapidly. Molecular genetic analysis revealed his\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">PRNP<\/jats:styled-content>\n                    <\/jats:italic>\n                    P102L mutation carrier status. Brain\n                    <jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content>\n                    s revealed progressive, global volume loss and T2\u2010weighted\/fluid\u2010attenuated inversion recovery hyperintensity in the neocortex and basal ganglia. Postmortem examination showed neuronal loss, gliosis, spongiform changes, and PrP deposition in the striatum. PrP immunohistochemistry revealed widespread, severe PrP deposition in the thalamus and cerebellar cortex. Based on the neuropathological and molecular\u2010genetic analyses, the rapidly progressing parkinsonism\u2010dystonia was correlated with nigrostriatal, thalamic, and cerebellar pathology.\n                  <\/jats:p>","DOI":"10.1002\/mdc3.12307","type":"journal-article","created":{"date-parts":[[2016,2,18]],"date-time":"2016-02-18T17:48:41Z","timestamp":1455817721000},"page":"355-358","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Clinicopathological Correlates in a\n                    <i>\n                      <scp>PRNP<\/scp>\n                    <\/i>\n                    P102L Mutation Carrier with Rapidly Progressing Parkinsonism\u2010Dystonia"],"prefix":"10.1002","volume":"3","author":[{"given":"Chizoba C.","family":"Umeh","sequence":"first","affiliation":[{"name":"Department of Neurology Johns Hopkins School of Medicine Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piyush","family":"Kalakoti","sequence":"additional","affiliation":[{"name":"Department of Neurology Johns Hopkins School of Medicine Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael K.","family":"Greenberg","sequence":"additional","affiliation":[{"name":"Charles County Neurology Waldorf Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvio","family":"Notari","sequence":"additional","affiliation":[{"name":"National Prion Disease Pathology Surveillance Center Case Western Reserve University Cleveland Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yvonne","family":"Cohen","sequence":"additional","affiliation":[{"name":"National Prion Disease Pathology Surveillance Center Case Western Reserve University Cleveland Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierluigi","family":"Gambetti","sequence":"additional","affiliation":[{"name":"National Prion Disease Pathology Surveillance Center Case Western Reserve University Cleveland Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adrian L.","family":"Oblak","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Indiana University School of Medicine Indianapolis Indiana USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernardino","family":"Ghetti","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Indiana University School of Medicine Indianapolis Indiana USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zoltan","family":"Mari","sequence":"additional","affiliation":[{"name":"Department of Neurology Johns Hopkins School of Medicine Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,2,18]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/338342a0"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.1996.tb00796.x"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0029(20000701)50:1<10::AID-JEMT3>3.0.CO;2-6"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0272-2712(02)00064-1"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.14.8322"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/9781444341256.ch37"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.12228"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl076"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-199810000-00010"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/CPJ.0000000000000026"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2013-307035"}],"container-title":["Movement 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