This website provides information on patients with mutations in the ELOVL5 gene, including clinical data, molecular data, management, and research options.
Spinocerebellar Ataxia Type 38 (SCA38) caused by mutations in the ELOVL5 gene is a multisystem disorder characterized by slowly progressive gait ataxia, nystagmus, diplopia, dysphagia, dysarthria, ataxia of the limbs, sensory loss, ophthalmoplegia and ophthalmoparesis. Anxiety disorders, pes cavus, hyposmia, and hearing loss may be present.
Not all individuals with a mutation in the ELOVL5 gene have these features.
This website was created to share and collect information about clinic, management, and research projects to gather more knowledge and provide better treatment of patients with mutations in the ELOVL5 gene.
Alfredo Brusco, Associate Professor, Department of Medical Sciences, University of Torino; Medical Genetics Unit, Città della Salute e della Scienza University Hospital di Torino, Torino, Italy, firstname.lastname@example.org
Barbara Borroni, Associate Professor, Neurology Unit, Department of Clinical and Experimental Sciences University of Brescia, Brescia, Italy, email@example.com