Ekbom's syndrome of photomyoclonus, cerebellar ataxia and cervical lipoma is associated with the tRNALys A8344G mutation in mitochondrial DNA

Abstract

We have investigated nine maternal offsprings to patients with a hereditary syndrome of cerebellar ataxia, photomyoclonus, skeletal deformities and lipoma, originally described by Ekbom. The nine family members underwent a thorough neurological examination, neurophysiological investigations and molecular genetic analysis of mtDNA from lymphocytes and muscle. Clinical examination showed a partial syndrome in one relative and minor signs and symptoms in three additional offsprings. We found the heteroplasmic tRNALys A8344G point mutation in mtDNA in all investigated maternal offsprings. The fraction of mutated mtDNA ranged from 33 to 87% in lymphocytes and from 59 to 92% in muscle tissue. Analysis of mtDNA from a lipoma showed a high level (96%) of the tRNALys A8344G mutation. We conclude that Ekbom's syndrome is a mitochondrial encephalomyopathy associated with the same heteroplasmic tRNA mutation as seen in myoclonus epilepsy with ragged-red fiber (MERRF) syndrome.