Mitochondrial DNA mutations in late-onset Leigh syndrome.

Abstract excerpt

Leigh syndrome (LS) is an early onset progressive neurodegenerative disorder with considerable clinical and genetic heterogeneities. Late-onset Leigh syndrome, i.e., onset after age of 2 years, is considered rare and often presents with atypical clinical features. We review the clinical features and imaging studies in a cohort of late-onset Leigh syndrome caused by mtDNA mutations. A total of 16 patients, 6 males...

Topics

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• Young Adult
• Age of Onset
• Brain
• Child
• Child, Preschool
• DNA, Mitochondrial