{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T06:45:25Z","timestamp":1769150725466,"version":"3.49.0"},"reference-count":27,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,1,23]],"date-time":"2024-01-23T00:00:00Z","timestamp":1705968000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["K23NS118045"],"award-info":[{"award-number":["K23NS118045"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000030","name":"Centers for Disease Control and Prevention","doi-asserted-by":"publisher","award":["1NU38CK000486"],"award-info":[{"award-number":["1NU38CK000486"]}],"id":[{"id":"10.13039\/100000030","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":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Genetic prion diseases, including Gerstmann\u2010Str\u00e4ussler\u2010Scheinker disease (GSS), are extremely rare, fatal neurodegenerative disorders, often associated with progressive ataxia and cognitive\/neuropsychiatric symptoms. GSS typically presents as a rapidly progressive cerebellar ataxia, associated with cognitive decline. Late\u2010onset cases are rare.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>To compare a novel GSS phenotype with six other cases and present pathological findings from a single case.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Case series of seven GSS patients, one proceeding to autopsy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Case 1 developed slowly progressive gait difficulties at age 71, mimicking a spinocerebellar ataxia, with a family history of balance problems in old age. Genome sequencing revealed a heterozygous c.392G\u2009&gt;\u2009A (p.G131E) pathogenic variant and a c.395A\u2009&gt;\u2009G resulting in p.129\u2009M\/V polymorphism in the <jats:italic>PRNP<\/jats:italic> gene. Probability analyses considering family history, phenotype, and a similar previously reported point mutation (p.G131V) suggest p.G131E as a new pathogenic variant. Clinical features and imaging of this case are compared with those six additional cases harboring p.P102L mutations. Autopsy findings of a case are described and were consistent with the prion pathology of GSS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We describe a patient with GSS with a novel p.G131E mutation in the <jats:italic>PRNP<\/jats:italic> gene, presenting with a late\u2010onset, slowly progressive phenotype, mimicking a spinocerebellar ataxia, and six additional cases with the typical P102L mutation.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mdc3.13976","type":"journal-article","created":{"date-parts":[[2024,1,23]],"date-time":"2024-01-23T05:35:28Z","timestamp":1705988128000},"page":"411-423","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["<scp>Gerstmann\u2010Str\u00e4ussler\u2010Scheinker<\/scp> Disease Presenting as Late\u2010Onset Slowly Progressive Spinocerebellar Ataxia, and Comparative Case Series with Neuropathology"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4727-192X","authenticated-orcid":false,"given":"Christopher D.","family":"Stephen","sequence":"first","affiliation":[{"name":"Ataxia Center, Department of Pathology Massachusetts General Hospital and Harvard Medical School  Boston Massachusetts USA"},{"name":"Cognitive Behavioral Neurology Unit, Department of Pathology Massachusetts General Hospital and Harvard Medical School  Boston Massachusetts USA"},{"name":"Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Pathology Massachusetts General Hospital and Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudio Melo","family":"de Gusmao","sequence":"additional","affiliation":[{"name":"Movement Disorders Division, Department of Neurology Brigham and Women's Hospital and Harvard Medical School  Boston Massachusetts USA"},{"name":"Department of Neurology University of S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sharan R.","family":"Srinivasan","sequence":"additional","affiliation":[{"name":"Movement Disorders Division, Department of Neurology University of Michigan  Ann Arbor Michigan USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7680-1758","authenticated-orcid":false,"given":"Abby","family":"Olsen","sequence":"additional","affiliation":[{"name":"Movement Disorders Division, Department of Neurology University of Pittsburgh and UPMC  Pittsburgh Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernando","family":"Freua","sequence":"additional","affiliation":[{"name":"Movement Disorders Division, Department of Neurology Brigham and Women's Hospital and Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernando","family":"Kok","sequence":"additional","affiliation":[{"name":"Movement Disorders Division, Department of Neurology Brigham and Women's Hospital and Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renata","family":"Montes Garcia Barbosa","sequence":"additional","affiliation":[{"name":"Movement Disorders Division, Department of Neurology Brigham and Women's Hospital and Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jin Yun (Helen)","family":"Chen","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit, Department of Neurology, Department of Pathology Massachusetts General Hospital and Harvard Medical School  Boston Massachusetts USA"},{"name":"C.S. Kubik Laboratory of Neuropathology, Department of Pathology Massachusetts General Hospital and Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brian S.","family":"Appleby","sequence":"additional","affiliation":[{"name":"The National Prion Disease Pathology Surveillance Center Case Western Reserve University  Cleveland Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Prior","sequence":"additional","affiliation":[{"name":"The National Prion Disease Pathology Surveillance Center Case Western Reserve University  Cleveland Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3940-9861","authenticated-orcid":false,"given":"Matthew P.","family":"Frosch","sequence":"additional","affiliation":[{"name":"C.S. Kubik Laboratory of Neuropathology, Department of Pathology Massachusetts General Hospital and Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0706-5125","authenticated-orcid":false,"given":"Jeremy D.","family":"Schmahmann","sequence":"additional","affiliation":[{"name":"Ataxia Center, Department of Pathology Massachusetts General Hospital and Harvard Medical School  Boston Massachusetts USA"},{"name":"Cognitive Behavioral Neurology Unit, Department of Pathology Massachusetts General Hospital and Harvard Medical School  Boston Massachusetts USA"},{"name":"Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Pathology Massachusetts General Hospital and Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,1,23]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.0000000000006730"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awn202"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2022.1003056"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25579"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2018.05.012"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awab350"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.0000000000010086"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22681"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/prot.10348"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/s1474-4422(20)30273-8"},{"key":"e_1_2_8_12_1","volume-title":"GeneReviews\u00ae [Internet]","author":"Zerr A","year":"1993"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/brb3.1117"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMcpc2115852"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1212\/con.0000000000000319"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.12307"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-019-0074-3"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1212\/con.0000000000001154"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.58.11.1899"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1097\/NEN.0b013e3182270c54"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1212\/nxg.0000000000000454"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.13165"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/b978-0-444-63945-5.00015-5"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.0000000000201321"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2017.00429"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1983.04050090054008"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphar.2014.00081"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.3233\/jad-130218"}],"updated-by":[{"DOI":"10.1002\/mdc3.14058","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2024,5,2]],"date-time":"2024-05-02T00:00:00Z","timestamp":1714608000000}}],"container-title":["Movement Disorders Clinical Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.13976","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T12:28:14Z","timestamp":1760963294000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mdc3.13976"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1,23]]},"references-count":27,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024,4]]}},"alternative-id":["10.1002\/mdc3.13976"],"URL":"https:\/\/doi.org\/10.1002\/mdc3.13976","archive":["Portico"],"relation":{},"ISSN":["2330-1619","2330-1619"],"issn-type":[{"value":"2330-1619","type":"print"},{"value":"2330-1619","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,1,23]]},"assertion":[{"value":"2023-06-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-01-03","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-01-23","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}