Mitochondrial cerebellar ataxia, renal failure, neuropathy, and encephalopathy (MCARNE)

Peng Soon Ng, Marcus V. Pinto, Jadee L. Neff, Linda Hasadsri, W Edward Jr. Highsmith, Mary E. Fidler, Ralitza M Gavrilova, Christopher Jon Klein

Research output: Contribution to journalArticle

Abstract

Mitochondrial NADH dehydrogenase 5 (MT-ND5) Asp393Asn missense mutation is established to cause mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS). 1,2 We describe a case and family with this mutation and a divergent phenotype that eluded diagnosis. We suggest an expanded nomenclature, mitochondrial cerebellar ataxia, renal failure, neuropathy, and encephalopathy (MCARNE).

Original languageEnglish (US)
Article numbere314
JournalNeurology: Genetics
Volume5
Issue number2
DOIs
StatePublished - Apr 1 2019

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ASJC Scopus subject areas

  • Clinical Neurology
  • Genetics(clinical)

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