POLG-related disorder

POLG-related disorder

A continuum of clinical conditions—originally described as distinct entities—which share in common a mutation of POLG, a gene on chromosome 15q25 that encodes the catalytic subunit of mitochondrial DNA polymerase involved in replication of mitochondrial DNA.

POLG-related disorders
• Alpers-Huttenlocher syndrome;
• Childhood myocerebrohepatopathy spectrum;
• Myoclonic epilepsy myopathy sensory ataxia, including spinocerebellar ataxia with epilepsy;
• Ataxia neuropathy spectrum, including:
    — Mitochondrial recessive ataxia syndrome (MIRAS)
    — Sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO);
• Autosomal recessive progressive external ophthalmoplegia;
• Autosomal dominant progressive external ophthalmoplegia.