A case of Gerstmann-Straussler-Scheinker (GSS) disease with supranuclear gaze palsy
Gerstmann-Straussler-Scheinker disease (GSS), an autosomal dominant prion disorder, usually presents as a slowly progressive cerebellar ataxia followed by later cognitive decline. We present a member of the GSS Indiana Kindred with supranuclear palsy, a less common feature in GSS. A 42-year-old man...
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| Veröffentlicht in: | Journal of Clinical Movement Disorders (Online) 2019-12, Vol.6 (1), p.7, Article 7 |
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| creator | Ufkes, Nicole A Woodard, Craig Dale, Marian L |
| description | Gerstmann-Straussler-Scheinker disease (GSS), an autosomal dominant prion disorder, usually presents as a slowly progressive cerebellar ataxia followed by later cognitive decline. We present a member of the GSS Indiana Kindred with supranuclear palsy, a less common feature in GSS.
A 42-year-old man presented with 12 months of progressive gait and balance difficulty. Exam was notable for ataxia and cerebellar eye movement abnormalities. Genetic testing revealed a F198S variant in the prion protein (PRNP) gene, the pathological variant of GSS associated with his family, the Indiana kindred. Eighteen months after initial presentation supranuclear palsy developed.
GSS is a neurodegenerative prion disease with diverse clinical presentations, and exhibits greater variability in disease phenotype compared to other inherited spongiform encephalopathies. GSS should be on the differential for patients with ataxia and supranuclear palsy, and it is important to assess both horizontal and vertical saccades and optokinetic nystagmus in patients with ataxia. |
| doi_str_mv | 10.1186/s40734-019-0082-1 |
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A 42-year-old man presented with 12 months of progressive gait and balance difficulty. Exam was notable for ataxia and cerebellar eye movement abnormalities. Genetic testing revealed a F198S variant in the prion protein (PRNP) gene, the pathological variant of GSS associated with his family, the Indiana kindred. Eighteen months after initial presentation supranuclear palsy developed.
GSS is a neurodegenerative prion disease with diverse clinical presentations, and exhibits greater variability in disease phenotype compared to other inherited spongiform encephalopathies. GSS should be on the differential for patients with ataxia and supranuclear palsy, and it is important to assess both horizontal and vertical saccades and optokinetic nystagmus in patients with ataxia.</description><identifier>ISSN: 2054-7072</identifier><identifier>EISSN: 2054-7072</identifier><identifier>DOI: 10.1186/s40734-019-0082-1</identifier><identifier>PMID: 31890235</identifier><language>eng</language><publisher>England: BioMed Central</publisher><subject>Bovine spongiform encephalopathy ; Case Report ; Creutzfeldt-Jakob disease ; Eye movements ; Mutation ; Pathology</subject><ispartof>Journal of Clinical Movement Disorders (Online), 2019-12, Vol.6 (1), p.7, Article 7</ispartof><rights>The Author(s). 2019.</rights><rights>2019. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>The Author(s). 2019</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c2391-6b4da1edc49146bb3edb1f856b460c63f1718a0e7ea0145324a31263516aac7c3</citedby><cites>FETCH-LOGICAL-c2391-6b4da1edc49146bb3edb1f856b460c63f1718a0e7ea0145324a31263516aac7c3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6907140/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6907140/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/31890235$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ufkes, Nicole A</creatorcontrib><creatorcontrib>Woodard, Craig</creatorcontrib><creatorcontrib>Dale, Marian L</creatorcontrib><title>A case of Gerstmann-Straussler-Scheinker (GSS) disease with supranuclear gaze palsy</title><title>Journal of Clinical Movement Disorders (Online)</title><addtitle>J Clin Mov Disord</addtitle><description>Gerstmann-Straussler-Scheinker disease (GSS), an autosomal dominant prion disorder, usually presents as a slowly progressive cerebellar ataxia followed by later cognitive decline. We present a member of the GSS Indiana Kindred with supranuclear palsy, a less common feature in GSS.
A 42-year-old man presented with 12 months of progressive gait and balance difficulty. Exam was notable for ataxia and cerebellar eye movement abnormalities. Genetic testing revealed a F198S variant in the prion protein (PRNP) gene, the pathological variant of GSS associated with his family, the Indiana kindred. Eighteen months after initial presentation supranuclear palsy developed.
GSS is a neurodegenerative prion disease with diverse clinical presentations, and exhibits greater variability in disease phenotype compared to other inherited spongiform encephalopathies. GSS should be on the differential for patients with ataxia and supranuclear palsy, and it is important to assess both horizontal and vertical saccades and optokinetic nystagmus in patients with ataxia.</description><subject>Bovine spongiform encephalopathy</subject><subject>Case Report</subject><subject>Creutzfeldt-Jakob disease</subject><subject>Eye movements</subject><subject>Mutation</subject><subject>Pathology</subject><issn>2054-7072</issn><issn>2054-7072</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><recordid>eNpVUU1PwzAMjRCITWM_gAuqxAUOATtJvy5I0wQDaRKHwjlKs3Tr6NqSrKDx68m0MY2TLfv5-dmPkEuEO8QkuncCYi4oYEoBEkbxhPQZhILGELPTo7xHhs4tAQBDwXiI56THMUnB532SjQKtnAmaIpgY69YrVdc0W1vVOVcZSzO9MGX9YWxwM8my22BWOrPFf5frReC61qq605VRNpirHxO0qnKbC3JW-GiG-zgg70-Pb-NnOn2dvIxHU6oZT5FGuZgpNDMtUhRRnnMzy7FIQl-PQEe8wBgTBSY2ClCEnAnFkUX-gkgpHWs-IA873rbLV57H1F53JVtbrpTdyEaV8n-nLhdy3nzJKIUYBXiC6z2BbT4749Zy2XS29pol4yzhYYjhFoU7lLaNc9YUhw0IcmuF3FkhvRVya4VEP3N1LO0w8fd4_gumKYQI</recordid><startdate>20191211</startdate><enddate>20191211</enddate><creator>Ufkes, Nicole A</creator><creator>Woodard, Craig</creator><creator>Dale, Marian L</creator><general>BioMed Central</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7RV</scope><scope>7X7</scope><scope>7XB</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>KB0</scope><scope>M0S</scope><scope>NAPCQ</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>5PM</scope></search><sort><creationdate>20191211</creationdate><title>A case of Gerstmann-Straussler-Scheinker (GSS) disease with supranuclear gaze palsy</title><author>Ufkes, Nicole A ; Woodard, Craig ; Dale, Marian L</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c2391-6b4da1edc49146bb3edb1f856b460c63f1718a0e7ea0145324a31263516aac7c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>Bovine spongiform encephalopathy</topic><topic>Case Report</topic><topic>Creutzfeldt-Jakob disease</topic><topic>Eye movements</topic><topic>Mutation</topic><topic>Pathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ufkes, Nicole A</creatorcontrib><creatorcontrib>Woodard, Craig</creatorcontrib><creatorcontrib>Dale, Marian L</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Nursing & Allied Health Database</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Nursing & Allied Health Premium</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of Clinical Movement Disorders (Online)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ufkes, Nicole A</au><au>Woodard, Craig</au><au>Dale, Marian L</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A case of Gerstmann-Straussler-Scheinker (GSS) disease with supranuclear gaze palsy</atitle><jtitle>Journal of Clinical Movement Disorders (Online)</jtitle><addtitle>J Clin Mov Disord</addtitle><date>2019-12-11</date><risdate>2019</risdate><volume>6</volume><issue>1</issue><spage>7</spage><pages>7-</pages><artnum>7</artnum><issn>2054-7072</issn><eissn>2054-7072</eissn><abstract>Gerstmann-Straussler-Scheinker disease (GSS), an autosomal dominant prion disorder, usually presents as a slowly progressive cerebellar ataxia followed by later cognitive decline. We present a member of the GSS Indiana Kindred with supranuclear palsy, a less common feature in GSS.
A 42-year-old man presented with 12 months of progressive gait and balance difficulty. Exam was notable for ataxia and cerebellar eye movement abnormalities. Genetic testing revealed a F198S variant in the prion protein (PRNP) gene, the pathological variant of GSS associated with his family, the Indiana kindred. Eighteen months after initial presentation supranuclear palsy developed.
GSS is a neurodegenerative prion disease with diverse clinical presentations, and exhibits greater variability in disease phenotype compared to other inherited spongiform encephalopathies. GSS should be on the differential for patients with ataxia and supranuclear palsy, and it is important to assess both horizontal and vertical saccades and optokinetic nystagmus in patients with ataxia.</abstract><cop>England</cop><pub>BioMed Central</pub><pmid>31890235</pmid><doi>10.1186/s40734-019-0082-1</doi><oa>free_for_read</oa></addata></record> |
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| source | Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central Open Access; Springer Nature OA Free Journals; PubMed Central |
| subjects | Bovine spongiform encephalopathy Case Report Creutzfeldt-Jakob disease Eye movements Mutation Pathology |
| title | A case of Gerstmann-Straussler-Scheinker (GSS) disease with supranuclear gaze palsy |
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