title: Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA(Leu(CUN)) gene.
abstract: Pathogenic mutations in the tRNA(Leu(UCN)) gene of mitochondrial DNA (mtDNA) have been invariably accompanied by skeletal myopathy with or without chronic progressive external ophthalmoplegia (CPEO). We report a young woman with a heteroplasmic m.12276G>A mutation in tRNA(Leu(UCN)), who had childhood-onset and slowly progressive encephalopathy with ataxia, cognitive impairment, and hearing loss. Sequencing of the 22 tRNA mitochondrial genes is indicated in all unusual neurological syndromes, even in the absence of maternal inheritance.
authors.affiliation: Department of Neurology, Columbia University Medical Center, New York, NY, USA.
authors.forename: Jorida
authors.initials: J
authors.lastname: Coku
authors.forename: Sara
authors.initials: S
authors.lastname: Shanske
authors.forename: Mahsa
authors.initials: M
authors.lastname: Mehrazin
authors.forename: Kurenai
authors.initials: K
authors.lastname: Tanji
authors.forename: Ali
authors.initials: A
authors.lastname: Naini
authors.forename: Valentina
authors.initials: V
authors.lastname: Emmanuele
authors.forename: Marc
authors.initials: M
authors.lastname: Patterson
authors.forename: Michio
authors.initials: M
authors.lastname: Hirano
authors.forename: Salvatore
authors.initials: S
authors.lastname: DiMauro
mesh_terms: D000328:Adult; D017668:Age of Onset; D001259:Ataxia / Q000235:genetics / Q000503:physiopathology; D001921:Brain / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D001925:Brain Damage, Chronic / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D003072:Cognition Disorders / Q000235:genetics / Q000503:physiopathology; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics; D018450:Disease Progression; D005260:Female; D005838:Genotype; D034381:Hearing Loss / Q000235:genetics* / Q000503:physiopathology; D020271:Heredodegenerative Disorders, Nervous System / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D028361:Mitochondrial Diseases / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D012356:RNA, Transfer, Leu / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D012356:RNA, Transfer, Leu