Mitochondrial DNA Mutations and Cognition: A Case-Series Report
Abstract
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.
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JWH was found to have cognitive decline with worsening of neuropsychiatric symptoms over the fortnight, along with poorer intake and early satiety.
“He was found to have cognitive decline 13 with worsening of neuropsychiatric symptoms over the fortnight, along with poorer intake and early satiety.”
From Psychiatric care for a person with MELAS syndrome: A case report (2021) · cites this paper as [13]
JWH's cognitive symptoms appeared to correlate with the severity of cerebral atrophy shown in his MRI.
“His cognitive symptoms appeared to correlate with the severity of the cerebral atrophy shown in his MRI. 13”
From Psychiatric care for a person with MELAS syndrome: A case report (2021) · cites this paper as [13]
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- Authors
- Inczedy-Farkas, G., Trampush, J. W., Perczel Forintos, D., Beech, D., Andrejkovics, M., Varga, Z., Remenyi, V., Bereznai, B., Gal, A., & Molnar, M. J.
- Affiliations
- Feinstein Institute for Medical Research (US)
- ORCID
- Trampush, Joey W.
- Venue
- Archives of Clinical Neuropsychology
- Publisher
- Oxford University Press (OUP)
- Published
- 2014-04-28
- Volume
- 29
- Issue
- 4
- Pages
- 315-321
- ISSN
- 0887-6177 (ISSN-L)
- 1873-5843
- OpenAlex
- W2100637353
- Cited by
- 36
- References
- 21
- Citations by year
- 2026: 2 · 2025: 1 · 2024: 1 · 2023: 6 · 2022: 4 · 2021: 10 · 2020: 3 · 2019: 3 · 2018: 2 · 2017: 2 · 2016: 1 · 2015: 1
- FWCI
- 0.55
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Archives of Clinical Neuropsychology (publishedVersion)
- PubMed (publishedVersion)
- Semmelweis University Repository (Semmelweis University) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Health Sciences › Medicine › Neurology › Parkinson's Disease Mechanisms and Treatments
- Keywords
- mitochondrial DNA mutations, mitochondrial disease, cognitive impairment, neuropsychological assessment, word recall, processing speed, Alzheimer's disease comparison, dementia assessment, phenotypic heterogeneity
- MeSH terms
- Adolescent, Adult, Cognition Disorders, DNA, Mitochondrial, Female, Genotype, Humans, Male, Middle Aged, Mutation, Neuropsychological Tests, Mental Recall, Verbal Learning, Cohort Studies, Young Adult
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