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Neuropathological studies have shown that neuronal loss is largely restricted to the cerebellum. Although the repeat locus is highly unstable during intergenerational transmission, it remains unknown whether it exhibits cerebral mosaicism and progressive instability throughout life.<\/jats:p>\n                  <jats:p>We conducted an analysis of the FGF14 GAA\u2022TTC repeat somatic instability across 156 serial blood samples from 69 individuals, fibroblasts, induced pluripotent stem cells and post-mortem brain tissues from six controls and six patients with SCA27B, alongside methylation profiling using targeted long-read sequencing. Peripheral tissues exhibited minimal somatic instability, which did not significantly change over periods of more than 20\u2005years. In post-mortem brains, the GAA\u2022TTC repeat was remarkably stable across all regions, except in the cerebellar hemispheres and vermis. The levels of somatic expansion in the cerebellar hemispheres and vermis were, on average, 3.15 and 2.72 times greater relative to other examined brain regions, respectively. Additionally, levels of somatic expansion in the brain increased with repeat length and tissue expression of FGF14. We found no significant difference in methylation of wild-type and expanded FGF14 alleles in post-mortem cerebellar hemispheres between patients and controls.<\/jats:p>\n                  <jats:p>In conclusion, our study revealed that the FGF14 GAA\u2022TTC repeat exhibits a cerebellar-specific expansion bias, which may explain the pure cerebellar involvement in SCA27B.<\/jats:p>","DOI":"10.1093\/brain\/awae312","type":"journal-article","created":{"date-parts":[[2024,10,7]],"date-time":"2024-10-07T15:22:35Z","timestamp":1728314555000},"page":"1258-1270","source":"Crossref","is-referenced-by-count":21,"title":["Somatic instability of the\n                    <i>FGF14<\/i>\n                    -SCA27B GAA\u2022TTC repeat reveals a marked expansion bias in the cerebellum"],"prefix":"10.1093","volume":"148","author":[{"given":"David","family":"Pellerin","sequence":"first","affiliation":[{"name":"Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine , Miami, FL 33136 ,","place":["USA"]},{"name":"Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University , Montreal, QC H3A 2B4 ,","place":["Canada"]},{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Loup","family":"M\u00e9reaux","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Institut du Cerveau\u2014Paris Brain Institute- ICM, Inserm, CNRS, APHP, University Hospital Piti\u00e9-Salp\u00eatri\u00e8re , F-75013 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susana","family":"Boluda","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Institut du Cerveau\u2014Paris Brain Institute- ICM, Inserm, CNRS, APHP, University Hospital Piti\u00e9-Salp\u00eatri\u00e8re , F-75013 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matt C","family":"Danzi","sequence":"additional","affiliation":[{"name":"Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine , Miami, FL 33136 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Jos\u00e9e","family":"Dicaire","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University , Montreal, QC H3A 2B4 ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire-Sophie","family":"Davoine","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Institut du Cerveau\u2014Paris Brain Institute- ICM, Inserm, CNRS, APHP, University Hospital Piti\u00e9-Salp\u00eatri\u00e8re , F-75013 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Genis","sequence":"additional","affiliation":[{"name":"Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta (ICS) & Hospital Santa Caterina IAS, Institut d\u2019Investigaci\u00f3 Biom\u00e8dica de Girona (IDIBGI) , 17007 Girona ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guinevere","family":"Spurdens","sequence":"additional","affiliation":[{"name":"Dr John T. 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Hussman Institute for Human Genomics, University of Miami Miller School of Medicine , Miami, FL 33136 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8921-7104","authenticated-orcid":false,"given":"Alexandra","family":"Durr","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Institut du Cerveau\u2014Paris Brain Institute- ICM, Inserm, CNRS, APHP, University Hospital Piti\u00e9-Salp\u00eatri\u00e8re , F-75013 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1394-3561","authenticated-orcid":false,"given":"Bernard","family":"Brais","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University , Montreal, QC H3A 2B4 ,","place":["Canada"]},{"name":"Department of Human Genetics, McGill University , Montreal, QC H3A 0C7 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