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Interestingly, AOA1, AOA2, AOA4, and AT are overlapping ARCAs characterized by oculomotor apraxia, with oculocephalic dissociation, choreo\u2010dystonia, and\/or axonal sensorimotor neuropathy, in addition to cerebellar ataxia with cerebellar atrophy. The genetic backgrounds in these disorders play central roles in nuclear maintenance through DNA repair [<jats:italic>ATM<\/jats:italic> (AT), <jats:italic>APTX<\/jats:italic> (AOA1), or <jats:italic>PNKP<\/jats:italic> (AOA4)] or RNA termination [<jats:italic>SETX<\/jats:italic> (AOA2)]. Partially discriminating thresholds of AFP have been proposed as a way to distinguish between ARCAs with elevated AFP. In these entities, elevated AFP may be an epiphenomenon as a result of liver transcriptional dysregulation. AFP is a simple and reliable biomarker for the diagnosis of ARCA in performance and interpretation of next\u2010generation sequencing. Here, we evaluated clinical, laboratory, imaging, and molecular data of the group of ARCAs that share elevated AFP serum levels that have been described in the past two decades. \u00a9 2020 International Parkinson and Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.28307","type":"journal-article","created":{"date-parts":[[2020,10,12]],"date-time":"2020-10-12T08:48:37Z","timestamp":1602492517000},"page":"2139-2149","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":39,"title":["Autosomal Recessive Cerebellar Ataxias With Elevated Alpha\u2010Fetoprotein: Uncommon Diseases, Common Biomarker"],"prefix":"10.1002","volume":"35","author":[{"given":"Mathilde","family":"Renaud","sequence":"first","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Clinique CHRU de Nancy  Nancy France"},{"name":"INSERM\u2010U1256 NGERE Universit\u00e9 de Lorraine  Nancy 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