{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T08:49:19Z","timestamp":1784191759157,"version":"3.55.0"},"reference-count":29,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,9,19]],"date-time":"2013-09-19T00:00:00Z","timestamp":1379548800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Brain Pathology"],"published-print":{"date-parts":[[2014,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:styled-content style=\"fixed-case\">G<\/jats:styled-content>erstmann\u2010<jats:styled-content style=\"fixed-case\">S<\/jats:styled-content>tr\u00e4ussler\u2010<jats:styled-content style=\"fixed-case\">S<\/jats:styled-content>cheinker syndrome (<jats:styled-content style=\"fixed-case\">GSS<\/jats:styled-content>) is a dominantly inherited disorder belonging to the group of transmissible human spongiform encephalopathies or prion diseases. Several families affected by <jats:styled-content style=\"fixed-case\">GSS<\/jats:styled-content> with patients carrying mutations in the prion protein gene have been described worldwide. We report clinical, genealogical, neuropathology and molecular study results from two members of the first <jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>rgentine kindred affected by <jats:styled-content style=\"fixed-case\">GSS<\/jats:styled-content>. Both family members presented a frontotemporal\u2010like syndrome, one with and the other without ataxia, with different lesions on neuropathology. A <jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>ro to <jats:styled-content style=\"fixed-case\">L<\/jats:styled-content>eu point mutation at codon 102 (<jats:styled-content style=\"fixed-case\">P102L<\/jats:styled-content>) of the prion protein gene was detected in one of the subjects studied. The pathogenic basis of phenotypic variability observed in this family remains unclear, but resembles that observed in other <jats:styled-content style=\"fixed-case\">P102L GSS<\/jats:styled-content> patients from the same family.<\/jats:p>","DOI":"10.1111\/bpa.12083","type":"journal-article","created":{"date-parts":[[2013,8,15]],"date-time":"2013-08-15T15:45:02Z","timestamp":1376581502000},"page":"142-147","source":"Crossref","is-referenced-by-count":17,"title":["<scp>G<\/scp>erstmann\u2010<scp>S<\/scp>tr\u00e4ussler\u2010<scp>S<\/scp>cheinker Syndrome with Variable Phenotype in a New Kindred with <scp><i>PRNP<\/i><\/scp>\u2010<scp>P102L<\/scp> Mutation"],"prefix":"10.1111","volume":"24","author":[{"given":"Miguel A.","family":"Riudavets","sequence":"first","affiliation":[{"name":"Department of Neuropathology Institute for Neurological Research FLENI  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Alejandra","family":"Sraka","sequence":"additional","affiliation":[{"name":"Department of Neurology Hospital Larrain de Berisso  La Plata Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcelo","family":"Schultz","sequence":"additional","affiliation":[{"name":"Department of Neuropathology Institute for Neurological Research FLENI  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Estefan\u00eda","family":"Rojas","sequence":"additional","affiliation":[{"name":"Department of Neuropathology Institute for Neurological Research FLENI  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Horacio","family":"Martinetto","sequence":"additional","affiliation":[{"name":"Department of Neuropathology Institute for Neurological Research FLENI  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Begu\u00e9","sequence":"additional","affiliation":[{"name":"Department of Neuropathology Institute for Neurological Research FLENI  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"In\u00e9s Noher","family":"de Halac","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine University of C\u00f3rdoba  C\u00f3rdoba Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Poleggi","sequence":"additional","affiliation":[{"name":"Department of Cell Biology and Neurosciences Istituto Superiore di Sanit\u00e1  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"Equestre","sequence":"additional","affiliation":[{"name":"Department of Cell Biology and Neurosciences Istituto Superiore di Sanit\u00e1  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurizio","family":"Pocchiari","sequence":"additional","affiliation":[{"name":"Department of Cell Biology and Neurosciences Istituto Superiore di Sanit\u00e1  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gustavo","family":"Sevlever","sequence":"additional","affiliation":[{"name":"Department of Neuropathology Institute for Neurological Research FLENI  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana L\u00eda","family":"Taratuto","sequence":"additional","affiliation":[{"name":"Department of Neuropathology Institute for Neurological Research FLENI  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,9,19]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000218211.85675.18"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.47.3.734"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0003-3995(03)00017-0"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02335665"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(03)15171-9"},{"key":"e_1_2_6_7_1","first-page":"384","article-title":"Bericht des Vereines fur Psychiatrie und Neurologie in Wein","volume":"34","author":"Dimitz L","year":"1913","journal-title":"Jahrb Psychiatr Neurol"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.2007.00073.x"},{"key":"e_1_2_6_9_1","first-page":"659","article-title":"Gerstmann\u2010Str\u00e4ussler\u2010Scheinker syndrome in a Sicilian patient. 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