title: Juvenile parkinsonism, hypogonadism and Leigh-like MRI changes in a patient with m.4296G>A mutation in mitochondrial DNA.
abstract: Leigh syndrome is a mitochondrial disease with considerable clinical and genetic variation. We present a 16-year-old boy with Leigh-like syndrome and broad developmental retardation, parkinsonism and hypogonadism. Sequencing of the entire mitochondrial DNA from blood revealed the m.4296G>A mutation in the MT-TI gene. The mutation was heteroplasmic with a 95% proportion of the mutant genome, while the proportion was 58% in the blood of the patient's clinically healthy mother. Our results suggest that m.4296G>A is pathogenic in humans, and that the phenotype related to this change includes Leigh-like syndrome in adolescence with parkinsonism and hypogonadism, in addition to the previously reported early infantile Leigh syndrome.
authors: University of Turku and Turku University Hospital, Division of Clinical Neurosciences, Turku, Finland.
authors: Mika H
authors: MH
authors: Martikainen
authors: Laura
authors: L
authors: Kytövuori
authors: Kari
authors: K
authors: Majamaa
mesh_terms: D000293:Adolescent; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D004272:DNA, Mitochondrial / Q000737:chemistry / Q000235:genetics*; D005058:Eunuchism / Q000175:diagnosis / Q000235:genetics*; D054629:Genome, Mitochondrial; D006801:Humans; D007888:Leigh Disease / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D020734:Parkinsonian Disorders / Q000175:diagnosis / Q000235:genetics*; D017354:Point Mutation; D012355:RNA, Transfer, Ile / Q000235:genetics*; D011859:Radiography; D017422:Sequence Analysis, DNA
chemical_list: D004272:DNA, Mitochondrial; D012355:RNA, Transfer, Ile