{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T20:27:33Z","timestamp":1792787253825,"version":"4.5.0"},"reference-count":10,"publisher":"BMJ","issue":"9","license":[{"start":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T00:00:00Z","timestamp":1790035200000},"content-version":"unspecified","delay-in-days":21,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"UC Davis MIND Institute\u2019s Intellectual and Developmental Disabilities Research Center","award":["P50HD103256"],"award-info":[{"award-number":["P50HD103256"]}],"id":[{"id":"https:\/\/ror.org\/05rrcem69","id-type":"ROR","asserted-by":"crossref"}]},{"name":"National Institute of Child Health and Human Development","award":["HD036071"],"award-info":[{"award-number":["HD036071"]}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,9,3]]},"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:p>\n                    Fragile X-associated tremor\/ataxia syndrome (FXTAS) is a neurodegenerative disorder that develops in some carriers of the\n                    <jats:italic>FMR1<\/jats:italic>\n                    premutation. It starts with slight tremors or unsteadiness that progresses over time and includes cognitive decline. Here, we present the case of a man in his mid-60s with 88 CGG repeats in\n                    <jats:italic>FMR1<\/jats:italic>\n                    who was diagnosed with FXTAS in his late 50s. In his early 60s, he was diagnosed with autoimmune hepatitis (AIH), confirmed by biopsy, and his liver function declined, requiring a transplant. Recovery was complicated by a bile duct leak, but he eventually stabilised. Neurologically, his symptoms gradually worsened before the transplant; he was falling 7 times a day, showed tremor, ataxia and mild rigidity. MRI demonstrated white matter disease in the middle cerebellar peduncle and the splenium in the corpus callosum. The individual showed improvement in ataxic symptoms after the transplant and is no longer experiencing falls. Although FXTAS is primarily a neurodegenerative disorder, increasing evidence suggests that carriers of the\n                    <jats:italic>FMR1<\/jats:italic>\n                    premutation are also at higher risk for immune-mediated conditions. However, AIH has not previously been reported in individuals with FXTAS. This suggests a potential broader association between premutation and autoimmune diseases in fragile X premutation carriers. This case highlights the importance of monitoring autoimmune complications in these patients.\n                  <\/jats:p>","DOI":"10.1136\/bcr-2026-275105","type":"journal-article","created":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T18:15:36Z","timestamp":1790100936000},"page":"e275105","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Fragile X-associated tremor\/ataxia syndrome with autoimmune hepatitis requiring liver transplantation"],"prefix":"10.1136","volume":"19","author":[{"given":"Victoria","family":"Viteri","sequence":"first","affiliation":[{"name":"School of Medicine, Universidad de Las Americas Facultad de Ciencias de la Salud, Quito, Ecuador"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria F","family":"Parada","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, Clinica Universidad de Navarra, Pamplona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellery R","family":"Santos","sequence":"additional","affiliation":[{"name":"UC Davis MIND Institute, Sacramento, California, USA"},{"name":"Pediatrics, UC Davis Medical Center, Sacramento, California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hazel Maridith Barlahan","family":"Biag","sequence":"additional","affiliation":[{"name":"UC Davis MIND Institute, Sacramento, California, USA"},{"name":"Pediatrics, UC Davis Medical Center, Sacramento, California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Schneider","sequence":"additional","affiliation":[{"name":"UC Davis MIND Institute, Sacramento, California, USA"},{"name":"Pediatrics, UC Davis Medical Center, Sacramento, California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenniffer","family":"Villarreal","sequence":"additional","affiliation":[{"name":"UC Davis MIND Institute, Sacramento, California, USA"},{"name":"Neurodesarrollo Quito, Quito, Ecuador"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F","family":"Trotter","sequence":"additional","affiliation":[{"name":"Intermountain Medical Center, Murray, Utah, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Randi J","family":"Hagerman","sequence":"additional","affiliation":[{"name":"UC Davis MIND Institute, Sacramento, California, USA"},{"name":"Pediatrics, UC Davis Medical Center, Sacramento, California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2026,9,22]]},"reference":[{"key":"2026092211152818000_19.9.e275105.1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2016.82"},{"key":"2026092211152818000_19.9.e275105.2","doi-asserted-by":"crossref","DOI":"10.3390\/cells12182330","article-title":"Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation","volume":"12","author":"Tassone","year":"2023","journal-title":"Cells"},{"key":"2026092211152818000_19.9.e275105.3","doi-asserted-by":"crossref","unstructured":"Morrison DE , Ponzini MD , Santos ER , et al . Progression of fragile X-associated tremor\/ataxia syndrome revealed by subtype and stage inference. Brain Communications 2026;8. doi:10.1093\/braincomms\/fcaf483","DOI":"10.1093\/braincomms\/fcaf483"},{"key":"2026092211152818000_19.9.e275105.4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35569"},{"key":"2026092211152818000_19.9.e275105.5","doi-asserted-by":"crossref","DOI":"10.3390\/diagnostics14040382","article-title":"Autoimmune Hepatitis: A Diagnostic and Therapeutic Overview","volume":"14","author":"Mercado","year":"2024","journal-title":"Diagnostics (Basel)"},{"key":"2026092211152818000_19.9.e275105.6","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1002\/cld.321","article-title":"Autoimmune hepatitis: Diagnostic criteria and serological testing","volume":"3","author":"Vergani","year":"2014","journal-title":"Clin Liver Dis (Hoboken)"},{"key":"2026092211152818000_19.9.e275105.7","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1002\/mdc3.12942","article-title":"Parkinsonism Versus Concomitant Parkinson\u2019s Disease in Fragile X\u2013Associated Tremor\/Ataxia Syndrome","volume":"7","author":"Salcedo\u2010Arellano","year":"2020","journal-title":"Movement Disord Clin Pract"},{"key":"2026092211152818000_19.9.e275105.8","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-8278(99)80297-9"},{"key":"2026092211152818000_19.9.e275105.9","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0094475","article-title":"Immune dysregulation as a cause of autoinflammation in fragile X premutation carriers: link between FMRI CGG repeat number and decreased cytokine responses","volume":"9","author":"Careaga","year":"2014","journal-title":"PLoS One"},{"key":"2026092211152818000_19.9.e275105.10","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra2500106"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2026-275105","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T18:15:38Z","timestamp":1790100938000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2026-275105"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9]]},"references-count":10,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2026,9,22]]},"published-print":{"date-parts":[[2026,9]]}},"alternative-id":["10.1136\/bcr-2026-275105"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2026-275105","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9]]}}}