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All patients with SCA42ND show cerebellar atrophy and\/or hypoplasia on neuroimaging and share common features such as dysmorphic features, global developmental delay, and axial hypotonia, all manifesting within the first year of life. To date, only 10 patients with SCA42ND have been reported with functionally confirmed gain\u2010of\u2010function variants, bearing either of two recurrent pathogenic variants. We describe a girl with congenital ataxia, without epilepsy, and a de novo p.Ala961Thr pathogenic variant in <jats:italic>CACNA1G<\/jats:italic>. We review the published subjects with the aim of better characterizing the dysmorphic features that may be crucial for clinical recognition of SCA42ND. Cerebellar atrophy, together with digital anomalies, particularly broad thumbs and\/or halluces, should lead to clinical suspicion of this disease. We describe the first pharmacological attempt to treat a patient with SCA42ND using zonisamide, an antiepileptic drug with T\u2010type channel blocker activity, in an off\u2010label indication using an itemized study protocol. No efficacy was observed at the dose tested. However, without pharmacological treatment, she showed a positive evolution in neurodevelopment during the follow\u2010up.<\/jats:p>","DOI":"10.1002\/ajmg.a.61939","type":"journal-article","created":{"date-parts":[[2020,10,24]],"date-time":"2020-10-24T09:24:16Z","timestamp":1603531456000},"page":"256-260","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Early\u2010onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (<scp>SCA42ND<\/scp>): Case report, pharmacological trial, and literature review"],"prefix":"10.1002","volume":"185","author":[{"given":"D\u00eddac","family":"Casas\u2010Alba","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology and Early Stimulation Unit Institut de Recerca, Hospital Sant Joan de D\u00e9u  Barcelona Spain"},{"name":"Department of Genetic and Molecular Medicine IPER Institut de Recerca, Hospital Sant Joan de D\u00e9u Barcelona  Barcelona 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Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Merc\u00e8","family":"Bolasell","sequence":"additional","affiliation":[{"name":"Department of Genetic and Molecular Medicine IPER Institut de Recerca, Hospital Sant Joan de D\u00e9u Barcelona  Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio F.","family":"Mart\u00ednez\u2010Monseny","sequence":"additional","affiliation":[{"name":"Department of Genetic and Molecular Medicine IPER Institut de Recerca, Hospital Sant Joan de D\u00e9u Barcelona  Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jordi","family":"Muchart","sequence":"additional","affiliation":[{"name":"Department of Radiology Hospital Sant Joan de D\u00e9u Barcelona  Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 M.","family":"Fern\u00e1ndez\u2010Fern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Department de Ci\u00e8ncies Experimentals i de la Salut, Laboratori de Fisiologia Molecular Universitat Pompeu Fabra  Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Loreto","family":"Martorell","sequence":"additional","affiliation":[{"name":"Department of Genetic and Molecular Medicine IPER Institut de Recerca, Hospital Sant Joan de D\u00e9u Barcelona  Barcelona Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Instituto de Salud Carlos III  Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2056-2428","authenticated-orcid":false,"given":"Mercedes","family":"Serrano","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology and Early Stimulation Unit Institut de Recerca, Hospital Sant Joan de D\u00e9u  Barcelona Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Instituto de Salud Carlos III  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