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- Title
Magnetic resonance imaging findings in Leigh syndrome with a novel compound heterozygous SURF1 gene mutation.
- Authors
Kim, Younhee; Koide, Reiji; Isozaki, Eiji; Goto, Yu‐ichi
- 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.
- Subjects
LEIGH disease; BRAIN diseases; MAGNETIC resonance imaging; GENETIC mutation; CYTOCHROME oxidase; WHITE matter (Nerve tissue); DIAGNOSIS
- Publication
Neurology & Clinical Neuroscience, 2016, Vol 4, Issue 1, p34
- ISSN
2049-4173
- Publication type
Article
- DOI
10.1111/ncn3.12033