https://m2.mtmt.hu/ eng 2026-06-27 09:38 JournalArticle 31032708 VALIDATED true 0 false 2026-05-19T16:05:40.089+0000 2023-01-23T14:31:22.688+0000 2020-01-02T10:00:32.165+0000 true 10015544 Csajbók Edit /api/admin/10015544 Admin true 10015544 2025-04-07T09:07:38.602+0000 2025-04-07T09:07:38.602+0000 2023-01-23T14:31:22.991+0000 true 10015544 Csajbók Edit /api/admin/10015544 Admin true 10015544 Admin 10101397 /api/admin/10101397 Tokai Tamás true true 2026-01-20T15:16:00.571+0000 true false true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle true 10000059 Article true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle /api/subtype/10000059 Szakcikk SubType 101 true 10000059 true 1 /api/category/1 Category true 1 Fekete, Bálint Broadening the phenotype of the TWNK gene associated Perrault syndrome true true /api/journal/10006499 REVIEWED true false 10006499 false 10006499 true 1471-2350 1471-2350 Journal FOREIGN 20 1 198 198 8 2019 Perrault syndrome is a genetically heterogenous, very rare disease, characterized clinically by sensorineural hearing loss, ovarian dysfunction and neurological symptoms. We present the case of a 33 years old female patient with TWNK-associated Perrault syndrome. The TWNK gene is coding the mitochondrial protein Twinkle and currently there are only two reports characterizing the phenotype of TWNK-associated Perrault syndrome. None of these publications reported about special brain MRI alterations and neuropathological changes in the muscle and peripheral nerves.Our patients with TWNK-dependent Perrault syndrome had severe bilateral hypoacusis, severe ataxia, polyneuropathy, lower limb spastic paraparesis with pyramidal signs, and gonadal dysgenesis. Psychiatric symptoms such as depression and paranoia were present as well. Brain MRI observed progressive cerebellar hyperintensive signs associated with cerebellar, medulla oblongata and cervical spinal cord atrophy. Light microscopy of the muscle biopsy detected severe neurogenic lesions. COX staining was centrally reduced in many muscle fibers. Both muscle and sural nerve electron microscopy detected slightly enlarged mitochondria with abnormal cristae surrounded by lipid vacuoles. In the sural nerve, dystrophic axons had focally uncompacted myelin lamellae present. Genetic investigation revealed multiple mtDNA deletion and compound heterozygous mutations of the TWNK gene (c.1196 A > G, c.1358 G > A).This study demonstrates that TWNK associated Perrault syndrome has a much broader phenotype as originally published. The coexistence of severe hypoacusis, spastic limb weakness, ataxia, polyneuropathy, gonadal dysgensia, hyperintense signals in the cerebellum and the presence of the mtDNA multiple deletion could indicate the impairment of the TWNK gene. This is the first report about pyramidal tract involvement and cerebellar MRI alteration associated with TWNK-related Perrault syndrome. true true 2020 true true true false true false GOLD 2026-05-19 true https://doi.org/10.1186/s12881-019-0934-4 18 0 18 18 0 18 18 18 17 18 18 18 18 18 0 0 18 18 18 18 0 1 1 Folyóiratcikk Journal Article 24 18 Könyvrészlet Chapter in Book 25 0 Könyv Book 23 0 Egyéb konferenciaközlemény Conference paper 31 0 Egyéb konferenciakötet Conference proceedings 32 0 Oltalmi formák Protection forms 26 0 Disszertáció Thesis 28 0 Egyéb Miscellaneous 29 0 Alkotás Achievement 22 0 Kutatási adat Research data 33 0 Folyóiratcikk Journal Article 24 0 0 0 Könyvrészlet Chapter in Book 25 0 0 0 Könyv Book 23 0 0 0 Egyéb konferenciaközlemény Conference paper 31 0 0 0 Egyéb konferenciakötet Conference proceedings 32 0 0 0 Oltalmi formák Protection forms 26 0 0 0 Disszertáció Thesis 28 0 0 0 Egyéb Miscellaneous 29 0 0 0 Alkotás Achievement 22 0 0 0 Kutatási adat Research data 33 0 0 0 2020 0 4 4 4 4 2021 0 1 1 1 1 2022 0 3 3 3 3 2023 0 2 2 2 2 2024 0 3 3 3 3 2025 0 3 3 3 3 2026 0 2 2 2 2 Q3 false false false false 2020-01-01T10:03:05.912+0000 Agykéreg Kutatócsoport (KOKI / CHO); Genomikai Medicina és Ritka Betegségek Intézete (SE / AOK / I); MR Kutatóközpont (SE / KSZE); Pszichiátriai és Pszichoterápiás Klinika (SE / AOK / K) 10 46 4 10 0 true 10101397 Language 10002 /api/language/10002 Angol English true 2 true PersonAuthorship 89728145 /api/authorship/89728145 1 0.1 true false true Author 10052027 /api/author/10052027 Fekete Bálint András true 10052027 true Fekete Bálint true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 89728146 /api/authorship/89728146 2 0.1 false false false Author 10032402 /api/author/10032402 Pentelényi Klára true 10032402 true Pentelényi Klára true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 89728147 /api/authorship/89728147 3 0.1 false 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Idris János true true Idris Jimoh true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 89728152 /api/authorship/89728152 8 0.1 false false false Author 10023954 /api/author/10023954 Csukly Gábor true 10023954 true Csukly Gabor true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 89728153 /api/authorship/89728153 9 0.1 false false false Author 203 /api/author/203 Domonkos Andor true 203 true Domonkos Andor true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 89728154 /api/authorship/89728154 10 0.1 false true false Author 10002781 /api/author/10002781 Molnár Mária Judit true 10002781 true Molnar Maria Judit true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PublicationIdentifier 16340664 /api/publicationidentifier/16340664 PlainSource 6 /api/publicationsource/6 PublicationSourceType 10001 /api/publicationsourcetype/10001 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65 0.74 journal RatingType 10002 /api/ratingtype/10002 sjr true true ClassificationExternal 2716 /api/classificationexternal/2716 true 2716 true Q3 DIRECT true true /api/publication/31032708 <div class="JournalArticle Publication long-list"> <div class="authors"> <img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png"> <img title="Idézőközlemény" style="float: left" src="/frontend/resources/grid/publication-citation-icon.png"> <div class="autype autype0"> <span class="author-name" mtid="10052027"><a href="/gui2/?type=authors&mode=browse&sel=10052027" target="_blank">Fekete Bálint ✉ (<span class="authorship-author-name">Fekete Bálint András</span> <span class="authorAux-mtmt"> genetika</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/Genomic Medicine and the Institute of Rare Diseases</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10032402"><a href="/gui2/?type=authors&mode=browse&sel=10032402" target="_blank">Pentelényi Klára (<span class="authorship-author-name">Pentelényi Klára</span> <span class="authorAux-mtmt"> molekuláris biológia, genetika</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/Genomic Medicine and the Institute of Rare Diseases</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10022028"><a href="/gui2/?type=authors&mode=browse&sel=10022028" target="_blank">Rudas Gabor (<span class="authorship-author-name">Rudas Gábor</span> <span class="authorAux-mtmt"> MR kutatás</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Központi Szervezeti Egységek (beleértve az Egyéb Szervezeti Egységeket)">KSZE</span>/MR Research Center</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10013908"><a href="/gui2/?type=authors&mode=browse&sel=10013908" target="_blank">Gál Anikó (<span class="authorship-author-name">Gál Anikó</span> <span class="authorAux-mtmt"> Molekuláris biológia-genetika</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/Genomic Medicine and the Institute of Rare Diseases</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10040725"><a href="/gui2/?type=authors&mode=browse&sel=10040725" target="_blank">Grosz Zoltán (<span class="authorship-author-name">Grosz Zoltán</span> <span class="authorAux-mtmt"> Neurológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/Genomic Medicine and the Institute of Rare Diseases</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10048349"><a href="/gui2/?type=authors&mode=browse&sel=10048349" target="_blank">Illés Anett (<span class="authorship-author-name">Illés Anett</span> <span class="authorAux-mtmt"> Molekuláris biológia, Genetika</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/Genomic Medicine and the Institute of Rare Diseases</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10068012"><a href="/gui2/?type=authors&mode=browse&sel=10068012" target="_blank">Idris Jimoh (<span class="authorship-author-name">Jimoh Idris János</span> <span class="authorAux-mtmt"> Neurogenetika</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/Genomic Medicine and the Institute of Rare Diseases</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10023954"><a href="/gui2/?type=authors&mode=browse&sel=10023954" target="_blank">Csukly Gabor (<span class="authorship-author-name">Csukly Gábor</span> <span class="authorAux-mtmt"> Pszichiátria</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Clinical">C</span>/Pszichiátriai és Pszichoterápiás Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="203"><a href="/gui2/?type=authors&mode=browse&sel=203" target="_blank">Domonkos Andor (<span class="authorship-author-name">Domonkos Andor</span> <span class="authorAux-mtmt"> Neurobiológia</span>) </a> </span> <span class="author-affil"><span title="Institute of Experimental Medicine">IEM</span>/<span title="Department of Cellular and Network Neurobiology">DCNN</span>/Laboratory of Cerebral Cortex Research</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10002781"><a href="/gui2/?type=authors&mode=browse&sel=10002781" target="_blank">Molnar Maria Judit (<span class="authorship-author-name">Molnár Mária Judit</span> <span class="authorAux-mtmt"> Neurológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/Genomic Medicine and the Institute of Rare Diseases</span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;31032708" target="_blank">Broadening the phenotype of the TWNK gene associated Perrault syndrome</a></div> <div> <span class="journal-title">BMC MEDICAL GENETICS</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/1471-2350">1471-2350</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/1471-2350">1471-2350</a>)</span>: <span class="journal-volume">20</span> <span class="journal-issue">1</span> <span class="page"> Paper 198. 8 p. </span> <span class="year">(2019)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Language: English | </span> <span class="identifiers"> <span class="id identifier oa_GOLD" title=" Gold "> <a style="color:blue" title="10.1186/s12881-019-0934-4" target="_blank" href="https://doi.org/10.1186/s12881-019-0934-4"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000511615500001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/000511615500001"> WoS </a> </span> <span class="id identifier oa_GREEN" title=" Green "> <a style="color:blue" title="8321" target="_blank" href="https://repo.lib.semmelweis.hu/handle/123456789/8321"> SE Repozitórium </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85076971426" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85076971426"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="31852434" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=31852434&dopt=Abstract"> PubMed </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Journal subject: Scopus - Genetics (clinical)&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q3</div> <div class="journal-subject">Journal subject: Scopus - Genetics&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q3</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="" class="citingPub-count">Citing papers: 18</span> | Independent citation: 18 | Self citation: 0 | Unknown citation: 0 | Number of citations in WoS: 18 | Number of citations in Scopus:&nbsp;17 | WoS/Scopus assigned:&nbsp;18 | Number of citations with DOI:&nbsp;18 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;31032708&sort=publishedYear,desc&sort=title"> Number of cited publications: 1 </a> </div> <div class="mtid"><span class="long-pub-mtid">Publication: 31032708</span> | <span class="status-data status-VALIDATED"> Validated </span> Core Citing | <span class="type-subtype">Journal Article ( Article ) </span> | <span class="pub-category">Scientific</span> | <span class="publication-sourceOfData">kézi felvitel</span> </div> <div class="lastModified">Last Modified: 2023.01.23. 15:31 Edit Csajbók (SE_KK_Admin5_CSE, admin) </div> <div class="lockedBy">Centrally managed 2026.01.20. 16:16 Tamás Tokai (Központi 2-3, admin) </div> </div></div>