{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T00:03:33Z","timestamp":1782950613458,"version":"3.54.5"},"reference-count":18,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,5,5]],"date-time":"2023-05-05T00:00:00Z","timestamp":1683244800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003359","name":"Generalitat Valenciana","doi-asserted-by":"publisher","award":["PROMETEO\/2018\/135; PROMETEO\/2019\/075"],"award-info":[{"award-number":["PROMETEO\/2018\/135; PROMETEO\/2019\/075"]}],"id":[{"id":"10.13039\/501100003359","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI18\/00147"],"award-info":[{"award-number":["PI18\/00147"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI21\/00103"],"award-info":[{"award-number":["PI21\/00103"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Autosomal dominant spinocerebellar ataxia 36 (SCA36) is caused by hexanucleotide repeat expansion in the <jats:italic>NOP56<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To assess frequency, clinical and genetic features of SCA36 in Eastern Spain.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p><jats:italic>NOP56<\/jats:italic> expansion was tested in a cohort of undiagnosed cerebellar ataxia families (n\u2009=\u200984). Clinical characterization and haplotype studies were performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>SCA36 was identified in 37 individuals from 16 unrelated families. It represented 5.4% of hereditary ataxia patients. The majority were originally from the same region and displayed a shared haplotype. Mean age at onset was 52.5\u2009years. Non\u2010ataxic features included: hypoacusis (67.9%), pyramidal signs (46.4%), lingual fasciculations\/atrophy (25%), dystonia (17.8%), and parkinsonism with evidence of dopaminergic denervation (10.7%).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>SCA36 is a frequent cause of hereditary ataxia in Eastern Spain, and is associated with a strong founder effect. SCA36 analysis should be considered prior to other studies, especially in AD presentations. Parkinsonism reported here broadens SCA36 clinical spectrum.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mdc3.13740","type":"journal-article","created":{"date-parts":[[2023,4,4]],"date-time":"2023-04-04T05:30:14Z","timestamp":1680586214000},"page":"992-997","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9913-4268","authenticated-orcid":false,"given":"Raquel","family":"Baviera\u2010Mu\u00f1oz","sequence":"first","affiliation":[{"name":"Neurology Department Hospital Universitari I Polit\u00e8cnic La Fe  Valencia Spain"},{"name":"Neuromuscular and Ataxias Research Group Instituto de Investigaci\u00f3n Sanitaria La Fe  Valencia Spain"},{"name":"Rare Diseases Joint Unit CIPF\u2010IIS La Fe  Valencia Spain"},{"name":"Cellular, Molecular and Genomics 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