Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA(Leu(CUN)) gene.
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.
Coku
Jorida
J
Department of Neurology, Columbia University Medical Center, New York, NY, USA.
Shanske
Sara
S
Mehrazin
Mahsa
M
Tanji
Kurenai
K
Naini
Ali
A
Emmanuele
Valentina
V
Patterson
Marc
M
Hirano
Michio
M
DiMauro
Salvatore
S
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*
D004272:DNA, Mitochondrial; D012356:RNA, Transfer, Leu