Bilateral striatal lesions in a family with mitochondrial 14459G>A mutation
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Case 1, a Japanese 30-year-old man, and case 2, a 22-yearold younger brother of case 1, presented with pediatric-onset dystonia without optic neuropathy. Case 1 was wheelchaired and case 2 was bedridden when referred to the Department of Neurology, Aomori Prefectural Central Hospital, Aomori City, Aomori, Japan. Genetic analysis showed a homoplasmic mitochondrial 14459G>A DNA mutation in the leukocytes of case 1. Case 3, the 55-year-old mother of case 1 and 2, was asymptomatic. All three cases showed bilateral putaminal lesions by magnetic resonance imaging, which were larger in case 1 and 2, the more affected cases, than case 3 (Fig. 1). Case 1 (Fig. 1a,d,g) and case 2 (Fig. 1b, e,h) showed bilateral caudate atrophy. The caudate volume of case 3 (Fig. 1c,f,i) was relatively preserved compared with the other patients. The caudate was highly atrophic in the most severely impaired patient (Fig. 1b,e,h). Most patients with m.14459G>A mutation develop pediatric-onset dystonia
[1] C. Ki,et al. Pediatric-Onset Dystonia Associated with Bilateral Striatal Necrosis and G14459A Mutation in a Korean Family: A Case Report , 2009, Journal of Korean medical science.