DNMT1-associated sensory neuropathy and cerebellar ataxia: a novel variant and review of genotype-phenotype correlation.

We describe a novel variant in DNMT1 and confirm that an overlapping HSN1E-cerebellar phenotype can occur. Only one prior case of cochlear implant in HSN1E has been reported to date but this case adds to that literature, suggesting that cochlear implant can be successful in such patients. We further explore the clinical and radiological signature of the cognitive syndrome associated with this disorder. This article is protected by copyright. All rights reserved.