Neuropsychiatric Features in Primary Mitochondrial Disease - 26/11/15

Doi : 10.1016/j.ncl.2015.08.011

Samantha E. Marin, MD ^a, Russell P. Saneto, DO, PhD ^b,^c,^⁎
^a Department of Neurosciences, University of California, San Diego (UCSD), 9500 Gilman Drive #0935, La Jolla, CA 92093-0935, USA
^b Department of Neurology, Seattle Children's Hospital, University of Washington, 4800 Sand Point Way Northeast, Seattle, WA 98105, USA
^c Department of Pediatrics, Seattle Children's Hospital, University of Washington, 4800 Sand Point Way Northeast, Seattle, WA 98105, USA

^∗Corresponding author. Department of Pediatric Neurology, 4800 Sand Point Way Northeast, Box MB 7.420, Seattle, WA 98105.

Résumé

Mitochondrial diseases are a clinically heterogeneous group of disorders that ultimately result from dysfunction of the mitochondrial respiratory chain. There is some evidence to suggest that mitochondrial dysfunction plays a role in neuropsychiatric illness; however, the data are inconclusive. This article summarizes the available literature published in the area of neuropsychiatric manifestations in both children and adults with primary mitochondrial disease, with a focus on autism spectrum disorder in children and mood disorders and schizophrenia in adults.

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Keywords : Mitochondrial, Neuropsychiatric, Behavioral, Autism, Depression, Anxiety, Bipolar disorder, Schizophrenia

Plan

Disclosure Statement: S.E. Marin has received funding as part of a mitochondrial fellowship from the National Institutes of Health (NIH 2U54NS078059-04). She is involved in the North American Mitochondrial Disease Consortium (NAMDC). She has been a nonpaid member of pharmaceutical company sponsored clinical studies, including those sponsored by Edison Pharmaceuticals, Raptor Pharmaceuticals, and Stealth Peptides. R.P. Saneto has received grant funding to perform clinical studies on mitochondrial diseases from National Institutes of Health (NIH 2U54NS078059-04) and Edison Pharmaceuticals. He is a nonpaid member of the DSMB board for REATA Pharmaceuticals 408-C-1402 and 408-C-1403.