HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS REGISTER		Author Keyword(s) Vol Page [Advanced]

This Article Full Text Full Text (PDF) Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Add article to my folders Download to citation manager Request Permissions Google Scholar Articles by Parry-Jones, A R Articles by Shaunak, S PubMed PubMed Citation Articles by Parry-Jones, A R Articles by Shaunak, S

Leber’s hereditary optic neuropathy associated with multiple sclerosis: Harding’s syndrome

¹ Specialist Registrar in Neurology
² Consultant Neurologist
³ Consultant Neuroradiologist
⁴ Consultant Neurologist
⁵ Department of Neurology, Royal Preston Hospital, Preston, Lancashire, UK

Correspondence to:
Dr A R Parry-Jones, Department of Neurology, Royal Preston Hospital, Sharoe Green Lane, Preston, Lancashire PR2 9HT, UK; adrianparryjones{at}hotmail.com

ABSTRACT

We describe a 32-year-old woman with sequential, severe, painless visual loss in one eye and then the other, and three temporally distinct episodes of neurological disturbance suggestive of demyelination in the spinal cord. She was positive for the T14484C mutation in the mitochondrial genome, one of three common mutations causing Leber’s hereditary optic neuropathy. In addition, MRI identified areas of demyelination within the periventricular white matter of the brain and within the spinal cord. The coexistence of multiple sclerosis and Leber’s hereditary optic neuropathy (Harding’s syndrome) is known to occur more often than would be expected by chance; therefore, screening for the Leber’s mutations in multiple sclerosis patients with severe visual loss should be considered because this has important prognostic and genetic implications. ...[End of Extract]

[PDF of this article]