Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations.

摘要: Missense mutations in the gene for polymerase gamma 1 (POLG1) cause a number of phenotypically heterogeneous mitochondrial diseases, most commonly progressive external ophthalmoplegia, and are characterized by accumulation multiple, large-scale deletions DNA. The triad sensory ataxic neuropathy, dysarthria, ophthalmoparesis (SANDO) has been demonstrated small subset patients with POLG1 mutations. We report sporadic case an 80-year-old compound heterozygote man who presented SANDO was found to have three known pathogenic (p.T251I/p.P587L/p.G848S). To our knowledge, none these previously SANDO. This patient's late presentation illustrates that disorder should be considered regardless age if clinical symptoms warrant.