Leber’s Hereditary Optic Neuropathy with Dystonia Caused by mtDNA 11778 Mutation

J Korean Neurol Assoc > Volume 18(2); 2000 > Article

Journal of the Korean Neurological Association 2000;18(2): 244-248.

mtDNA 11778 돌연변이로 인한 근긴장이상을 동반한 Leber씨 유전성 시신경병증

최은정, 이상암,하정호,안효숙

울산대학교 의과대학 서울중앙병원 신경과,안과*

Leber’s Hereditary Optic Neuropathy with Dystonia Caused by mtDNA 11778 Mutation

Eun Jung Choi, M.D., Sang Ahm Lee, M.D., Jung Ho Ha, M.D., Hyo Sook Ahn, M.D.*

Department of Neurology and Ophthalmology*, Asan Medical Center, University of Ulsan College of Medicine

Abstract

Several mtDNA mutations have been reported in Leber’s hereditary optic neuropathy (LHON) associated with dysto-nia since it was identified as having the 14459 mutation. We report a patient with LHON and dystonia and his family. The patient presented with a slowly progressive bilateral visual loss and generalized dystonia. Brain MRI showed abnormal signal changes in both putamina. The 11778 mutation was confirmed by a Sfa I restriction digestion test. We found, in the literature, only one case of the 11778 mutation associated with dystonia, although it is one of the most common mutations in LHON. Our case suggests that the 11778 mutation should be taken into consideration in the pathogenesis of LHON associated with dystonia. J Korean Neurol Assoc 18(2):244~248, 2000 Key Words : Leber’s hereditary optic neuropathy (LHON), Dystonia, 11778 Mutation