Transthyretin familiáris amyloid polyneuropathia - három magyarországi eset ritka mutációkkal (His88Arg és Phe33Leu)

https://m2.mtmt.hu/ hun 2026-03-16 09:24 true true 1 3 3 1 100 1 3 DESC publishedYear false ASC firstAuthor true ASC title true JournalArticle 3120636 VALIDATED true 0 2018-09-10T07:10:43.000+0000 false 3120636 2026-01-13T12:31:14.277+0000 2021-11-25T11:59:53.890+0000 2016-10-04T06:12:05.000+0000 true 10023607 Arányi Zsuzsanna /api/author/10023607 Author Arányi Zsuzsanna (Epilepszia, Elektrofiziológia (ENG, EMG), Ideg ultrahang) true 10023607 2022-02-14T16:09:16.397+0000 2022-02-14T16:09:16.397+0000 2021-11-25T11:59:53.904+0000 true 10026589 Tichy Rita /api/admin/10026589 Admin Tichy Rita (SE_KK_Admin5_TR, admin) true 10026589 Admin 10003133 /api/admin/10003133 Boros Annamária (MTMT Központi admin) Boros Annamária true 10003133 true 2023-12-01T09:58:44.429+0000 true false true 24 24 /api/publicationtype/24 PublicationType Folyóiratcikk 1 true 24 JournalArticle true 10000059 Article true 24 24 /api/publicationtype/24 PublicationType Folyóiratcikk 1 true 24 JournalArticle /api/subtype/10000059 Szakcikk SubType Szakcikk (Folyóiratcikk) 101 true 10000059 true 1 /api/category/1 Category Tudományos true 1 Csillik, Anita Transthyretin familiáris amyloid polyneuropathia - három magyarországi eset ritka mutációkkal (His88Arg és Phe33Leu) Transthyretin familial amyloid polyneuropathy – three hungarian cases with rare mutations (His88Arg andPphe33Leu) true true /api/journal/2088240 REVIEWED IDEGGYOGYASZATI SZEMLE / CLINICAL NEUROSCIENCE 0019-1442 2498-6208 true true 2088240 false 2088240 true 0019-1442 2498-6208 Journal FOREIGN_AND_HUNGARIAN 69 7-8 245 253 245 9 2016 2016 (Arányi Zsuzsanna (Epilepszia, Elektrofizi...); 2016.10.04. 08:11:45) false false true false true false NONE 2026-01-13 false true 10032489 Lantos Edit /api/admin/10032489 Admin Lantos Edit (2, 3 közp admin - INAKTÍV) true 10032489 6 0 6 5 2 6 6 5 6 6 6 5 5 5 1 0 6 5 6 5 0 0 0 Q4 A false false false false 2016-10-06T12:48:02.000+0000 2016-10-04T06:18:04.000+0000 III. 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Belgyógyászati Klinika (SE / AOK / K) 3 0.16666667 false false Author 10024568 /api/author/10024568 Pozsonyi Zoltán (belgyógyászat, kardiológia) Pozsonyi Zoltán true 10024568 true Pozsonyi Zoltán true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false 24836872 true PersonAuthorship 8292520 /api/authorship/8292520 Balogh, István [Balogh, István (Klinikai laborató...), szerző] Klinikai Genetikai Nem Önálló Tanszék (DE / ÁOK / LMI) 4 0.167 false false Author 10003267 /api/author/10003267 Balogh István (Klinikai laboratóriumi genetika) Balogh István true 10003267 true Balogh István true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false 24836870 true PersonAuthorship 8292521 /api/authorship/8292521 Bodó, Imre [Bodó, Imre (Belgyógyászat, ha...), szerző] 5 0.16666667 false false Author 10003510 /api/author/10003510 Bodó Imre (Belgyógyászat, haematológia) Bodó Imre true 10003510 true Bodó Imre true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false 24836869 true PersonAuthorship 8292522 /api/authorship/8292522 Arányi, Zsuzsanna [Arányi, Zsuzsanna (Epilepszia, Elekt...), szerző] Neurológiai Klinika (SE / AOK / K) 6 0.16666667 false true Author 10023607 /api/author/10023607 Arányi Zsuzsanna (Epilepszia, Elektrofiziológia (ENG, EMG), Ideg ultrahang) Arányi Zsuzsanna true 10023607 true Arányi Zsuzsanna true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false 24836868 true Institute 14130 /api/institute/14130 Ideggyógyászati Szemle szerkesztősége Kiadók / MTA KFB [2014-] 0 false true true Ideggyógyászati Szemle szerkesztősége Ideggyógyászati Szemle szerkesztősége true 14130 true PublicationIdentifier 1132376 /api/publicationidentifier/1132376 DOI: 10.18071/isz.69.0245 PlainSource 6 /api/publicationsource/6 DOI PublicationSourceType 10001 /api/publicationsourcetype/10001 DOI true true true DOI DOI https://doi.org/@@@ true true 6 true false IDENTICAL 10.18071/isz.69.0245 https://doi.org/10.18071/isz.69.0245 false 1464950 true PublicationIdentifier 1132374 /api/publicationidentifier/1132374 WoS: 000380866700005 PlainSource 1 /api/publicationsource/1 WoS PublicationSourceType 10003 /api/publicationsourcetype/10003 Indexelő adatbázis false true true WoS WoS https://www.webofscience.com/wos/woscc/full-record/@@@ true true 1 true false DIFFERENT 000380866700005 https://www.webofscience.com/wos/woscc/full-record/000380866700005 false 1464953 true PublicationIdentifier 1132375 /api/publicationidentifier/1132375 Scopus: 84984621725 PlainSource 3 /api/publicationsource/3 Scopus PublicationSourceType 10003 /api/publicationsourcetype/10003 Indexelő adatbázis false true true Scopus Scopus http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-@@@ true true 3 true false DIFFERENT 84984621725 http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-84984621725 false 1464954 true PublicationIdentifier 20224998 /api/publicationidentifier/20224998 PubMed: 29465889 PlainSource 17 /api/publicationsource/17 PubMed PublicationSourceType 10003 /api/publicationsourcetype/10003 Indexelő adatbázis false true true PubMed PubMed http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=@@@&dopt=Abstract true true 17 true IDENTICAL 29465889 http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=29465889&dopt=Abstract false true PublicationIdentifier 1132377 /api/publicationidentifier/1132377 Matarka: 2442253 PlainSource 33 /api/publicationsource/33 Matarka PublicationSourceType 10003 /api/publicationsourcetype/10003 Indexelő adatbázis false true true Matarka Matarka https://matarka.hu/egy-kozlemeny-oldala.php?MatarkaID=@@@ true true 33 true false IDENTICAL 2442253 https://matarka.hu/egy-kozlemeny-oldala.php?MatarkaID=2442253 false 1464951 true PublicationIdentifier 1132378 /api/publicationidentifier/1132378 MOB: 121182 PlainSource 70 /api/publicationsource/70 MOB PublicationSourceType 10003 /api/publicationsourcetype/10003 Indexelő adatbázis false true true MOB MOB https://mob.aeek.hu/detailsperm.jsp?PERMID=@@@ true true 70 true false IDENTICAL 121182 https://mob.aeek.hu/detailsperm.jsp?PERMID=121182 false 1633295 true Classification 12125 /api/classification/12125 Általános orvostudomány true true Classification 12215 /api/classification/12215 Klinikai orvostan true true Keyword 1002329 /api/keyword/1002329 amyloid true 1002329 true Keyword 1159369 /api/keyword/1159369 Transthyretin true 1159369 true Keyword 1443211 /api/keyword/1443211 Polyneuropathia true 1443211 true Keyword 1483050 /api/keyword/1483050 tafamidis true 1483050 true Keyword 1483051 /api/keyword/1483051 nagy felbontású ultrahang true 1483051 true MtaRating 10487066 /api/mtarating/10487066 II. Pszichológiai Tudományos Bizottság:A IDEGGYOGYASZATI SZEMLE / CLINICAL NEUROSCIENCE 0019-1442 2498-6208 RatingType 10026 /api/ratingtype/10026 II. Pszichológiai Tudományos Bizottság PsziTB Institute 14108 /api/institute/14108 Pszichológiai Tudományos Bizottság II. FTO PsziTB [1901-] 0 false true false Pszichológiai Tudományos Bizottság Committee on Psychology true 14108 true true true A true true SjrRating 10951795 /api/sjrrating/10951795 sjr:Q4 (2016) Scopus - Neurology (clinical) IDEGGYOGYASZATI SZEMLE / CLINICAL NEUROSCIENCE 0019-1442 2498-6208 274 1.0 journal RatingType 10002 /api/ratingtype/10002 sjr sjr true true ClassificationExternal 2728 /api/classificationexternal/2728 Scopus - Neurology (clinical) true 2728 true Q4 DIRECT true true /api/publication/3120636 Csillik Anita et al. Transthyretin familiáris amyloid polyneuropathia - három magyarországi eset ritka mutációkkal (His88Arg és Phe33Leu). (2016) IDEGGYOGYASZATI SZEMLE / CLINICAL NEUROSCIENCE 0019-1442 2498-6208 69 7-8 245-253<div class="JournalArticle Publication long-list"> <div class="authors"> <img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png"> <div class="autype autype0"> <span class="author-name" mtid="10066421"><a href="/gui2/?type=authors&mode=browse&sel=10066421" target="_blank">Csillik Anita ✉ (<span class="authorship-author-name">Csillik Anita</span> <span class="authorAux-mtmt"> neurológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/Neurológiai Klinika</span> ;    <span class="author-name" mtid="10070391"><a href="/gui2/?type=authors&mode=browse&sel=10070391" target="_blank">Soós Krisztina (<span class="authorship-author-name">Soós Krisztina</span> <span class="authorAux-mtmt"> neurológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/Neurológiai Klinika</span> ;    <span class="author-name" mtid="10024568"><a href="/gui2/?type=authors&mode=browse&sel=10024568" target="_blank">Pozsonyi Zoltán (<span class="authorship-author-name">Pozsonyi Zoltán</span> <span class="authorAux-mtmt"> belgyógyászat, kardiológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/III. Sz. Belgyógyászati Klinika</span> ;    <span class="author-name" mtid="10003267"><a href="/gui2/?type=authors&mode=browse&sel=10003267" target="_blank">Balogh István (<span class="authorship-author-name">Balogh István</span> <span class="authorAux-mtmt"> Klinikai laboratóriumi genetika</span>) </a> </span> <span class="author-affil"><span title="Debreceni Egyetem">DE</span>/<span title="Általános Orvostudományi Kar">ÁOK</span>/<span title="Laboratóriumi Medicina Intézet">LMI</span>/Klinikai Genetikai Nem Önálló Tanszék</span> ;    <span class="author-name" mtid="10003510"><a href="/gui2/?type=authors&mode=browse&sel=10003510" target="_blank">Bodó Imre (<span class="authorship-author-name">Bodó Imre</span> <span class="authorAux-mtmt"> Belgyógyászat, haematológia</span>) </a> </span> ;    <span class="author-name" mtid="10023607"><a href="/gui2/?type=authors&mode=browse&sel=10023607" target="_blank">Arányi Zsuzsanna (<span class="authorship-author-name">Arányi Zsuzsanna</span> <span class="authorAux-mtmt"> Epilepszia, Elektrofiziológia (ENG, EMG), Ideg ...</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/Neurológiai Klinika</span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;3120636" target="_blank">Transthyretin familiáris amyloid polyneuropathia - három magyarországi eset ritka mutációkkal (His88Arg és Phe33Leu)</a></div> <div> <span class="journal-title">IDEGGYOGYASZATI SZEMLE / CLINICAL NEUROSCIENCE</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/0019-1442">0019-1442</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/2498-6208">2498-6208</a>)</span>: <span class="journal-volume">69</span> <span class="journal-issue">7-8</span> <span class="page"> pp 245-253 </span> <span class="year">(2016)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Nyelv: Magyar | </span> <span class="identifiers"> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="10.18071/isz.69.0245" target="_blank" href="https://doi.org/10.18071/isz.69.0245"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000380866700005" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/000380866700005"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="84984621725" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-84984621725"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="29465889" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=29465889&dopt=Abstract"> PubMed </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="2442253" target="_blank" href="https://matarka.hu/egy-kozlemeny-oldala.php?MatarkaID=2442253"> Matarka </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="121182" target="_blank" href="https://mob.aeek.hu/detailsperm.jsp?PERMID=121182"> MOB </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Folyóirat szakterülete: Scopus - Neurology (clinical)   SJR indikátor: Q4</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Neurology   SJR indikátor: Q4</div> <div class="journal-subject">Pszichológiai Tudományos Bizottság II. FTO PsziTB [1901-]   A</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="Nyilvános idézőközlemények összesen, említések nélkül" class="citingPub-count">Nyilvános idéző összesen: 6</span> | Független: 5 | Függő: 1 | Nem jelölt: 0 | WoS jelölt: 5 | Scopus jelölt: 6 | WoS/Scopus jelölt: 6 | DOI jelölt: 6 </div> <div class="mtid"><span class="long-pub-mtid">Közlemény: 3120636</span> | <span class="status-data status-VALIDATED"> Egyeztetett </span> <span class="oldId">Régi azonosító: 3120636</span> | Forrás | <span class="type-subtype">Folyóiratcikk ( Szakcikk ) </span> | <span class="pub-category">Tudományos</span> | <span class="publication-sourceOfData">Matarka</span> </div> <div class="special-affiliations"> Speciális affiliáció: Ideggyógyászati Szemle szerkesztősége </div> <div class="lastModified">Utolsó módosítás: 2021.11.25. 12:59 Tichy Rita (SE_KK_Admin5_TR, admin) </div> <div class="lockedBy">Központi kezelésű 2023.12.01. 10:58 Boros Annamária (MTMT Központi admin) </div> </div></div> JournalArticle 1661664 VALIDATED true 0 2014-08-14T20:07:04.000+0000 false 1661664 2025-12-21T03:48:17.323+0000 2025-05-09T12:13:22.666+0000 2011-07-28T08:35:17.000+0000 true 10010173 Nyakas Csaba /api/author/10010173 Author Nyakas Csaba (Molekuláris neurobiológia) true 10010173 2025-05-09T12:13:22.041+0000 2025-05-09T12:13:22.041+0000 2025-05-09T12:13:22.821+0000 true 10067876 Ladányi Gusztáv /api/admin/10067876 Admin Ladányi Gusztáv (MTMT API user, admin) true Admin 10067876 /api/admin/10067876 Ladányi Gusztáv (MTMT API user, admin) Ladányi Gusztáv true true 2025-05-09T12:13:22.340+0000 true false true 24 24 /api/publicationtype/24 PublicationType Folyóiratcikk 1 true 24 JournalArticle true 10000059 Article true 24 24 /api/publicationtype/24 PublicationType Folyóiratcikk 1 true 24 JournalArticle /api/subtype/10000059 Szakcikk SubType Szakcikk (Folyóiratcikk) 101 true 10000059 true 1 /api/category/1 Category Tudományos true 1 Harkany, T Cutaneous lymphatic amyloid deposits in 'Hungarian-type' familial transthyretin amyloidosis: a case report true true /api/journal/812 REVIEWED BRITISH JOURNAL OF DERMATOLOGY 0007-0963 1365-2133 true false 812 false 812 true 0007-0963 1365-2133 Journal FOREIGN 146 4 674 679 674 6 2002 Multiple transthyretin (TTR) mutations have recently been identified and implicated in the development of familial systemic amyloidoses, but early diagnosis of these disorders is still largely unresolved. We investigated the presence and tissue distribution of TTR-derived amyloid in skin biopsies of a 59-year-old woman carrying the 'Hungarian-type' mutation of TTR (Asp18Gly). Clinical symptoms involved severe central nervous system dysfunction without signs of polyneuropathy, also referred to as the 'central form' of TTR-related systemic amyloidosis. Skin biopsy was also evaluated as a tool in order to diagnose this type of TTR amyloidosis. Biopsy samples were collected from the infra-axillary region. Light microscopy using Congo red and polarized light was used to diagnose amyloid deposits. Subsequently, electron microscopic analysis was performed to correlate the amyloid deposits with vicinal dermal structures. The amyloid class was determined by means of immunocytochemistry. TTR amyloid was primarily localized to lymphatic microvessels in the present case, whereas arterioles were devoid of TTR amyloid deposits. In addition, the well-known association of TTR amyloid with neural structures along the erector pilorum and around the sebaceous and serosal (sweat) glands was also evident. Electron microscopic analysis of amyloid deposits revealed characteristic amyloid fibrils that were irregular in shape, and exhibited a heterogeneous density and a random deposition pattern. Immunocytochemistry confirmed the cutaneous accumulation of TTR amyloid. In conclusion, amyloid deposits were abundantly present in the skin of a patient with 'Hungarian-type' TTR amyloidosis; skin biopsy seems to be appropriate for the diagnosis of this disorder. We showed that besides the erector pilorum, sweat glands and nerve terminals, lymphatic microvessels are also severely infiltrated by TTR amyloid. Whether these pathological alterations can exclusively be found in 'Hungarian-type' TTR amyloidosis should still be investigated. If such changes are not specific for the Asp18Gly mutation, they may be considered as diagnostic markers for 'central' TTR amyloid disorders. 2011 true true true false false NONE 2025-12-21 false 9 0 9 8 4 7 8 8 7 9 9 8 8 8 1 0 9 8 9 8 0 2 2 D1 false false false false 2014-01-15T13:21:12.000+0000 2013-01-25T11:59:51.000+0000 1 24 0 7 0 true 10067876 Language 10002 /api/language/10002 Angol Angol English true 2 true PersonAuthorship 1845441 /api/authorship/1845441 Harkany, T 1 0.14285715 true false Harkany T true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false 13268839 true PersonAuthorship 1845442 /api/authorship/1845442 Garzuly, F 2 0.14285715 false false Garzuly F true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false 13268838 true PersonAuthorship 1845443 /api/authorship/1845443 Csanaky, G 3 0.14285715 false false Csanaky G true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false 13268837 true PersonAuthorship 1845444 /api/authorship/1845444 Luiten, P G M 4 0.14285715 false false Luiten P G M true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false 13268836 true PersonAuthorship 1845445 /api/authorship/1845445 Nyakas, C [Nyakas, Csaba (Molekuláris neuro...), szerző] 5 0.14285715 false false Author 10010173 /api/author/10010173 Nyakas Csaba (Molekuláris neurobiológia) Nyakas Csaba true 10010173 true Nyakas C true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false 13268835 true PersonAuthorship 1845446 /api/authorship/1845446 Linke, R P 6 0.14285715 false false Linke R P true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false 13268834 true PersonAuthorship 1845447 /api/authorship/1845447 Virágh, S 7 0.14285715 false true Virágh S true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false 13268833 true PublicationIdentifier 405312 /api/publicationidentifier/405312 DOI: 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Cutaneous lymphatic amyloid deposits in 'Hungarian-type' familial transthyretin amyloidosis: a case report. 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Transthyretin mutation (serine 84) associated with familial amyloid polyneuropathy in a Hungarian family. (1998) AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS 1350-6129 1744-2818 5 1 30-34<div class="JournalArticle Publication long-list"> <div class="authors"> <img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png"> <div class="autype autype0"> <span class="author-name" >Zolyomi Z </span> ;    <span class="author-name" >Benson MD </span> ;    <span class="author-name" >Halasz K </span> ;    <span class="author-name" >Uemichi T </span> ;    <span class="author-name" mtid="1318616"><a href="/gui2/?type=authors&mode=browse&sel=1318616" target="_blank">Fekete G (<span class="authorship-author-name">Fekete György</span> <span class="authorAux-mtmt"> Gyermekgyógyászat, klinikai genetika, klinikofa...</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/II. Sz. 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