Magnetic resonance imaging findings in Leigh syndrome with a novel compound heterozygous SURF1 gene mutation. Issue 1 (17th December 2015)

• Record Type: Journal Article
• Authors: Kim, Younhee; Koide, Reiji; Isozaki, Eiji; Goto, Yu‐ichi
• Is Part Of: Neurology and clinical neuroscience. Volume 4:Issue 1(2016:Jan.)
• Page Start: 34
• Page End: 35
• Publication Date: 2015-12-17
• Subjects: compound heterozygous mutation -- cytochrome c oxydase -- Leigh syndrome -- leukoencephalopathy -- SURF1; Neurology -- Periodicals; Neurosciences -- Periodicals; 616.8
• DOI: 10.1111/ncn3.12033
• Languages: English
• ISSNs: 2049-4173

Abstract

Abstract: Leigh syndrome is a severe neurodegenerative disorder that mainly arises in infancy or early childhood. In 1998, mutations in the nuclear SURF1 gene, which encodes a protein involved in the cytochrome c oxidase, were identified in patients with Leigh syndrome. We report here a patient with Leigh syndrome carrying a novel compound heterozygous mutation in the SURF1 gene, in whom symmetrical parieto‐occipital cortex and white matter lesions were observed by magnetic resonance imaging, in addition to the characteristic basal ganglia lesions in Leigh syndrome.