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A literature review was also conducted and clinical and genetic features of families with TARDBP mutations were summarized.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We reported the bvFTD patient in Chinese with heterozygous mutation of TARDBP. Brain MRI revealed bilateral frontal and temporal atrophy, predominant in the right side. FDG-PET demonstrated frontal and temporal hypometabolism.\n                      <jats:sup>18<\/jats:sup>\n                      F-DPA714-PET showed focally elevated bilateral temporal tracer uptake, and\n                      <jats:sup>18<\/jats:sup>\n                      F-MNI-1126-PET revealed a reduction in synaptic uptake throughout the brain, especially in the bilateral temporal lobes. In the literature, we found 68 patients from 24 families with 6 different TARDBP mutations in an exon 6. Nine patients presented with symmetrical atrophy involving the frontal, temporal, and parietal lobes, 11 with asymmetrical atrophy, and 5 without atrophy. More than 60.3% of the patients had an onset age earlier than 65 years old and there was a predominance of men.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Our discovery confirmed a pedigree of FTD families and expanded the pedigree mutation spectrum of TARDBP in China. The establishment between phenotype and genotype will aid the diagnosis and treatment of FTD.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/25424823251412416","type":"journal-article","created":{"date-parts":[[2026,1,12]],"date-time":"2026-01-12T17:22:38Z","timestamp":1768238558000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["TARDBP gene mutation in a Chinese family with frontotemporal dementia: A case report and literature review"],"prefix":"10.1177","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-1455-7379","authenticated-orcid":false,"given":"Xue","family":"Zhao","sequence":"first","affiliation":[{"name":"Tianjin Huanhu Hospital Affiliated to Tianjin Medical University"},{"name":"Tianjin Huanhu Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0684-6248","authenticated-orcid":false,"given":"Liyong","family":"Wu","sequence":"additional","affiliation":[{"name":"Xuanwu Hospital, Capital Medical University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6184-829X","authenticated-orcid":false,"given":"Pan","family":"Li","sequence":"additional","affiliation":[{"name":"Tianjin Huanhu Hospital Affiliated to Tianjin Medical University"},{"name":"Tianjin Huanhu Hospital"},{"name":"Tianjin Huanhu Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2026,1,12]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(15)00461-4"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.91"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-0034-1381735"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/jnp.12297"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41582-018-0047-2"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41531-022-00398-5"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1080\/13554794.2019.1581225"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1007\/s13311-023-01380-6"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(13)60630-3"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(19)30394-1"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-014-7575-5"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21612"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21344"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.132"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1111\/nan.12063"},{"key":"e_1_3_3_17_2","first-page":"292","article-title":"A single nucleotide TDP-43 mutation within a Taiwanese family: a multifaceted demon","volume":"17","author":"Yu-Wen C","year":"2015","unstructured":"Yu-Wen C, Ming-Jen L, Ta-Fu C, et al. 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