A Novel Variant of Dehydrodolichol Diphosphate Synthase (DHDDS) Mutation with Adult-Onset Progressive Myoclonus Ataxia

We report a novel variant of DHDDS mutation in a patient with progressive adult-onset myoclonus ataxia. The mutation in our patient was different from previous reports of denovo mutations in DHDDS in 6 patients who showed tremor-like myoclonus and generalized epilepsy.