title: Autosomal dominant psychiatric disorders and mitochondrial DNA multiple deletions: report of a family.
abstract: 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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Neuroscience, Neurological Clinic, University of Pisa, Pisa, Italy. mmancuso@inwind.it
authors.forename: Michelangelo
authors.initials: M
authors.lastname: Mancuso
authors.forename: Giulia
authors.initials: G
authors.lastname: Ricci
authors.forename: Anna
authors.initials: A
authors.lastname: Choub
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Filosto
authors.forename: Salvatore
authors.initials: S
authors.lastname: DiMauro
authors.forename: Guido
authors.initials: G
authors.lastname: Davidzon
authors.forename: Alessandra
authors.initials: A
authors.lastname: Tessa
authors.forename: Filippo M
authors.initials: FM
authors.lastname: Santorelli
authors.forename: Luigi
authors.initials: L
authors.lastname: Murri
authors.forename: Gabriele
authors.initials: G
authors.lastname: Siciliano
mesh_terms: D001706:Biopsy; D001714:Bipolar Disorder / Q000175:diagnosis / Q000235:genetics*; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D004272:DNA, Mitochondrial / Q000235:genetics*; D003865:Major Depressive Disorder / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000473:pathology; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012008:Recurrence; D012559:Schizophrenia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial