A novel mutation in the DNMT1 gene in a patient presenting with pure cerebellar ataxia

The inherited ataxias are a clinically and genetically heterogeneous group of diseases that occur due to dysfunction of the cerebellum and its connections [1]. In most of these disorders, the disease onset is between 30 and 50 years of age. Several mutations in a variety of genes have been identified to cause these ataxias [2]. For instance, mutations in the DNA methyltransferase 1 gene (DNMT1) were reported to cause two phenotypes: OMIM 604121 and OMIM 614116. The first phenotype includes autosomal dominant cerebellar ataxia, deafness, and narcolepsy, which were reported to be caused by mutations in exon 21. The second phenotype includes hereditary sensory and auto-