Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations.

ABSTRACT:

Objective

To determine whether the association between multiple sclerosis (MS) and Leber hereditary optic neuropathy (LHON) (known as "Harding disease") is a chance finding, or the 2 disorders are mechanistically linked.

Methods

We performed a United Kingdom-wide prospective cohort study of prevalent cases of MS with LHON mitochondrial DNA (mtDNA) mutations. The new cases were compared with published cases, enabling a comprehensive clinical description. We also performed a meta-analysis of studies screening patients with MS for LHON mtDNA mutations to find evidence of a genetic association.

Results

Twelve new patients were identified from 11 pedigrees, and 44 cases were identified in the literature. The combined cohort had the following characteristics: multiple episo

SUBMITTER: Pfeffer G 

PROVIDER: S-EPMC3863351 | biostudies-literature | 2013 Dec

REPOSITORIES: biostudies-literature