Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNALeu(CUN) gene

Jorida Çoku, Sara Shanske, Mahsa Mehrazin, Kurenai Tanji, Ali Naini, Valentina Emmanuele, Marc Patterson, Michio Hirano, Salvatore DiMauro

Research output: Contribution to journalArticle

5 Scopus citations

Abstract

Pathogenic mutations in the tRNALeu(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 tRNALeu(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.

Original languageEnglish (US)
Pages (from-to)166-168
Number of pages3
JournalJournal of the neurological sciences
Volume290
Issue number1-2
DOIs
StatePublished - Mar 15 2010

Keywords

  • Ataxia
  • Dementia
  • Hearing loss
  • Mitochondrial DNA
  • tRNALeu(UCN)

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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    Çoku, J., Shanske, S., Mehrazin, M., Tanji, K., Naini, A., Emmanuele, V., Patterson, M., Hirano, M., & DiMauro, S. (2010). Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNALeu(CUN) gene. Journal of the neurological sciences, 290(1-2), 166-168. https://doi.org/10.1016/j.jns.2009.12.001