Mitochondrial DNA mutations and cognition: a case-series report.
Mutations in the mitochondrial genome can impair normal metabolic function in the central nervous system (CNS) where cellular energy demand is high. Primary mitochondrial DNA (mtDNA) mutations have been linked to several mitochondrial disorders that have comorbid psychiatric, neurologic, and cognitive sequelae. Here, we present a series of cases with primary mtDNA mutations who were genotyped and evaluated across a common neuropsychological battery. Nineteen patients with mtDNA mutations were genotyped and clinically and cognitively evaluated. Pronounced deficits in nonverbal/visuoperceptual reasoning, verbal recall, semantic word generativity, and processing speed were evident and consistent with a "mitochondrial dementia" that has been posited. However, variation in cognitive performance was noteworthy, suggesting that the phenotypic landscape of cognition linked to primary mtDNA mutations is heterogeneous. Our patients with mtDNA mutations evidenced cognitive deficits quite similar to those commonly seen in Alzheimer's disease and could have clinical relevance to the evaluation of dementia.
Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary Division of Psychiatry Research, The Zucker Hillside Hospital, Glen Oaks, NY, USA ginczedy13@nshs.edu.
Gabriella
G
Inczedy-Farkas
Division of Psychiatry Research, The Zucker Hillside Hospital, Glen Oaks, NY, USA Center for Psychiatric Neuroscience, The Feinstein Institute for Medical Research, Manhasset, NY, USA.
Joey W
JW
Trampush
Department of Clinical Psychology, Semmelweis University, Budapest, Hungary.
Dora
D
Perczel Forintos
Division of Psychiatry Research, The Zucker Hillside Hospital, Glen Oaks, NY, USA Center for Psychiatric Neuroscience, The Feinstein Institute for Medical Research, Manhasset, NY, USA.
Danielle
D
Beech
Department of Psychiatry, Medical School and Health Science Center, University of Debrecen, Debrecen, Hungary.
Monika
M
Andrejkovics
Operative Clinical Department Medical Division, Chemical Works of Gedeon Richter Ltd, Budapest, Hungary.
Zsofia
Z
Varga
Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary.
Viktoria
V
Remenyi
Evangelisches und Johanniter Krankenhaus Dierdorf-Selters, Dierdorf, Germany.
Benjamin
B
Bereznai
Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary.
Aniko
A
Gal
Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary.
Maria Judit
MJ
Molnar
D000293:Adolescent; D000328:Adult; D003072:Cognition Disorders / Q000175:diagnosis / Q000235:genetics*; D015331:Cohort Studies; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D011939:Mental Recall / Q000502:physiology; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009483:Neuropsychological Tests; D014706:Verbal Learning; D055815:Young Adult
D004272:DNA, Mitochondrial
Cognition; Dementia; Mitochondria; mtDNA mutation