Cognitive decline as a manifestation of mitochondrial disorders (mitochondrial dementia).

Finsterer, Josef

doi:10.1016/j.jns.2008.05.011

Cited by 64Mitochondrial Function and PathologyMetabolism and Genetic DisordersDementia and Cognitive Impairment Research

Cognitive decline as a manifestation of mitochondrial disorders (mitochondrial dementia).

Finsterer, Josef·2008·Journal of the Neurological Sciences

DOI 10.1016/j.jns.2008.05.011

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Abstract

Mitochondrial disorders, in particular respiratory chain diseases (RCDs), present either as single organ problem or as multi-system disease. One of the most frequently affected organs in RCDs, in addition to the skeletal muscle, is the central nervous system (CNS). CNS manifestations of RCDs include epilepsy, stroke-like episodes, migraine-like headache, ataxia, spasticity, movement disorders, psychosis, demyelination, calcification, but also dementia. Cognitive impairment may be a feature of syndromic as well as non-syndromic RCDs. Syndromic RCDs associated with cognitive impairment include MELAS, KSS, Leigh syndrome, and many others. RCDs with cognitive decline not only result from mtDNA mutations but also from mutations in nuclear genes. At onset there is often no general intellectual deterioration in these patients but specific cognitive deficits, particularly in the visual construction, attention, abstraction, or flexibility. Diagnosis of cognitive impairment from RCDs is based on neuropsychological testing, imaging studies, including MRI, PET, SPECT, or MR-spectroscopy, CSF investigations, or electroencephalography. Therapeutic strategies for dementia in RCDs rely on symptomatic measures. Only single patients may profit from cholinesterase inhibitors or memantine, antioxidants, vitamins, or other substitutes. Overall, cognitive decline in RCDs (mitochondrial dementia) needs to be included in the differentials of dementia.

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Chronic impairments of neuronal metabolism would be expected to compromise brain function and contribute to brain pathology.
“For the same reason, chronic impairments of neuronal metabolism would be expected to compromise brain function and contribute to brain pathology, which may be the case in epilepsy (due to runaway excitatory activity or directly to metabolic disorders [57]), sepsis [58], mitochondrial disorders, which strongly affect the brain [59], and Alzheimer's disease [60].”
From Scaling of Brain Metabolism with a Fixed Energy Budget per Neuron: Implications for Neuronal Activity, Plasticity and Evolution (2011) · cites this paper as [59]

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Authors: Finsterer, J.
Affiliations: Krankenanstalt Rudolfstiftung der Stadt Wien (AT)
Corresponding author: Finsterer, Josef
ORCID: Finsterer, Josef
Venue: Journal of the Neurological Sciences
Publisher: Elsevier BV
Published: 2008-09
Volume: 272
Issue: 1-2
Pages: 20-33
ISSN: 0022-510X (ISSN-L)
DOI: 10.1016/j.jns.2008.05.011
OpenAlex: W2146567534
Cited by: 64
References: 147
Citations by year: 2026: 2 · 2025: 3 · 2024: 3 · 2023: 3 · 2022: 3 · 2021: 3 · 2020: 1 · 2019: 4 · 2018: 3 · 2017: 5 · 2016: 2 · 2015: 4 · 2014: 3 · 2013: 3 · 2012: 3
FWCI: 0.46
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: Journal of the Neurological Sciences (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
Keywords: mitochondrial disease, cognitive decline, MELAS, KSS, Leigh syndrome, mitochondrial DNA mutations, nuclear gene mutations, neuropsychological assessment, differential diagnosis of dementia, cholinesterase inhibitors, memantine, antioxidants, mitochondrial encephalomyopathy
MeSH terms: Cognition Disorders, Dementia, Humans, Mitochondrial Diseases

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Cognitive decline as a manifestation of mitochondrial disorders (mitochondrial dementia).

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