Open Access Research

Psychiatric symptoms of patients with primary mitochondrial DNA disorders

Gabriella Inczedy-Farkas1, Viktoria Remenyi1, Aniko Gal1, Zsofia Varga2, Petra Balla3, Agnes Udvardy-Meszaros4, Benjamin Bereznai1 and Maria Judit Molnar1*

Author Affiliations

1 Clinical and Research Center for Molecular Neurology, Department of Neurology, Semmelweis University, 1083 Budapest Tömő Str. 25-29., Budapest, Hungary

2 Operative Clinical Department Medical Division, Chemical Works of Gedeon Richter Ltd., Budapest, Hungary

3 Department of Psychiatry, Medical School and Health Science Center, University of Debrecen, Debrecen, Hungary

4 Department of Clinical Psychology, Semmelweis University, Budapest, Hungary

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Behavioral and Brain Functions 2012, 8:9  doi:10.1186/1744-9081-8-9

Published: 13 February 2012



The aim of our study was to assess psychiatric symptoms in patients with genetically proven primary mutation of the mitochondrial DNA.


19 adults with known mitochondrial mutation (MT) have been assessed with the Stanford Health Assessment Questionnaire 20-item Disability Index (HAQ-DI), the Symptom Check List-90-Revised (SCL-90-R), the Beck Depression Inventory-Short Form (BDI-SF), the Hamilton Depression Rating Scale (HDRS) and the clinical version of the Structured Clinical Interview for the the DSM-IV (SCID-I and SCID-II) As control, 10 patients with hereditary sensorimotor neuropathy (HN), harboring the peripheral myelin protein-22 (PMP22) mutation were examined with the same tools.


The two groups did not differ significantly in gender, age or education. Mean HAQ-DI score was 0.82 in the MT (range: 0-1.625) and 0.71 in the HN group (range: 0-1.625). Level of disability between the two groups did not differ significantly (p = 0.6076). MT patients scored significantly higher on the BDI-SF and HDRS than HN patients (12.85 versus 4.40, p = 0.031, and 15.62 vs 7.30, p = 0.043, respectively). The Global Severity Index (GSI) of SCL-90-R also showed significant difference (1.44 vs 0.46, p = 0.013) as well as the subscales except for somatization. SCID-I interview yielded a variety of mood disorders in both groups. Eight MT patient (42%) had past, 6 (31%) had current, 5 (26%) had both past and current psychiatric diagnosis, yielding a lifetime prevalence of 9/19 (47%) in the MT group. In the HN group, 3 patients had both past and current diagnosis showing a lifetime prevalence of 3/10 (30%) in this group. SCID-II detected personality disorder in 8 MT cases (42%), yielding 3 avoidant, 2 obsessive-compulsive and 3 personality disorder not otherwise specified (NOS) diagnosis. No personality disorder was identified in the HN group.


Clinicians should be aware of the high prevalence of psychiatric symptoms in patients with mitochondrial mutation which has both etiologic and therapeutic relevance.

Mitochondrial mutation; Mental disorders; Depression