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: Jorida Coku, Sara Shanske, Mahsa Mehrazin, Kurenai Tanji, Ali Naini, Valentina Emmanuele, Marc Patterson, Michio Hirano, Salvatore DiMauro
• Journal: Journal of the neurological sciences (J Neurol Sci) Vol. 290 Issue 1-2 Pg. 166-8 (Mar 15 2010) ISSN: 1878-5883 [Electronic] Netherlands
• PMID: 20022607 (Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)

Chemical References

• DNA, Mitochondrial
• RNA, Transfer, Leu

Topics

• Adult
• Age of Onset
• Ataxia (genetics, physiopathology)
• Brain (metabolism, pathology, physiopathology)
• Brain Damage, Chronic (complications, genetics, physiopathology)
• Cognition Disorders (genetics, physiopathology)
• DNA Mutational Analysis
• DNA, Mitochondrial (genetics)
• Disease Progression
• Female
• Genotype
• Hearing Loss (genetics, physiopathology)
• Heredodegenerative Disorders, Nervous System (complications, genetics, physiopathology)
• Humans
• Inheritance Patterns (genetics)
• Mitochondrial Diseases (genetics, metabolism, physiopathology)
• Mutation (genetics)
• RNA, Transfer, Leu (genetics)