Autosomal dominant psychiatric disorders and mitochondrial DNA multiple deletions: Report of a family

Michelangelo Mancuso, Giulia Ricci, Anna Choub, Massimiliano Filosto, Salvatore DiMauro, Guido Davidzon, Alessandra Tessa, Filippo M. Santorelli, Luigi Murri, Gabriele Siciliano

Research output: Contribution to journalArticlepeer-review


Background: Psychiatric problems, including bipolar affective disorder (BD) and schizophrenia, are common in mitochondrial diseases (MD) and frequently precede the diagnosis of mitochondrial dysfunction. However, they are rarely the only persistent manifestation of a MD and they are usually associated with other neurological or non-neurological features. Case report: Here, we describe an Italian family with multiple deletions of mtDNA in muscle, in which BD, schizophrenia, and depression recurred over several generations in the absence of other major signs of mitochondrial dysfunction. Conclusion: In patients with positive family history of psychiatric problems, the possibility of MD should be kept in mind, even in absence of other canonical features of mitochondrial encephalomyopathies.

Original languageEnglish
Pages (from-to)173-177
Number of pages5
JournalJournal of Affective Disorders
Issue number1-2
Publication statusPublished - Feb 2008


  • Bipolar disorder
  • Mitochondrial disease
  • mtDNA
  • Psychiatric symptoms
  • Schizophrenia

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Behavioral Neuroscience
  • Biological Psychiatry
  • Neurology
  • Psychology(all)


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