Schizophrenia-like symptoms in a patient with Leigh syndrome

Satogami, Kazumi; Takahashi, Shun; Kose, Asami; Shinosaki, Kazuhiro

doi:10.1016/j.ajp.2016.12.012

Cited by 10 publications

(4 citation statements)

References 22 publications

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“…Beyond mood disorders, some authors described psychotic symptoms in adult populations ( 9 ) and Satogami ( 31 ) reported a case of Leigh syndrome who survived past adolescence and presented schizophrenia-like symptoms, including persecutory delusions and auditory hallucinations.…”

Section: Discussionmentioning

confidence: 99%

Neuropsychological and Psychiatric Features of Children and Adolescents Affected With Mitochondrial Diseases: A Systematic Review

et al. 2020

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Mitochondrial diseases (MDs) are a group of clinically heterogeneous genetic disorders that arise as the result of dysfunctional mitochondria. Only few medical articles deal with neuropsychological or psychiatric aspects of MDs. Aim: The present article aims to provide a systematic review of neuropsychological and psychiatric aspects of MDs. Methods: In order to identify all studies dealing with psychiatric and neuropsychological aspects of MDs in children and adolescents, we performed a search in the medical literature between April 2009 and April 2019 using PubMed, Cochrane, and Web of Science and we defined inclusion and exclusion criteria. Results: We found only seven studies that satisfy the inclusion requirements and criteria. The main psychiatric aspects reported in MDs were depressive and behavioral disorders. With regard to the neuropsychological aspects of MDs, developmental analyses showed an overall deterioration and developmental delay. Interpretation: Children and adolescents with MDs may present psychiatric symptoms and neuropsychological impairment. A more systematic investigation of psychiatric and neuropsychological features of MDs is needed to foster a better understanding of the phenotype of these diseases and their links with the genotype, which may have significant implications for the developmental trajectories of patients.

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Section: Discussionmentioning

confidence: 99%

Neuropsychological and Psychiatric Features of Children and Adolescents Affected With Mitochondrial Diseases: A Systematic Review

et al. 2020

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“…ECHS1 associated with locus 10q26.3 is a key enzyme involved in mitochondrial fatty acid β-oxidation and many metabolic pathways through catalyzing the hydration of enoyl-coenzyme A [ 40 ]. Deficiency of ECHS1 protein disrupts mitochondrial functions and may lead to brain pathology, such as Leigh syndrome characterized by psychomotor regression [ 41 ], and has been linked to psychiatric symptoms [ 42 , 43 ]. Indeed, mitochondrial dysfunction may lead to PTSD symptomatology through abnormal fear learning, brain network activation, steroidogenesis, and inflammation [ 44 ].…”

Section: Discussionmentioning

confidence: 99%

Genome-wide association study of posttraumatic stress disorder among childhood cancer survivors: results from the Childhood Cancer Survivor Study and the St. Jude Lifetime Cohort

Sapkota

Valdimarsdóttir

et al. 2022

Transl Psychiatry

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Genetic influence shapes who develops posttraumatic stress disorder (PTSD) after traumatic events. However, the genetic variants identified for PTSD may in fact be associated with traumatic exposures (e.g., interpersonal violence), which appear heritable as well. Childhood cancer survivors (CCS) are at risk for PTSD, but genetic influences affecting cancer are unlikely to overlap with those affecting PTSD. This offers a unique opportunity to identify variants specific to PTSD risk. In a genome-wide association study (GWAS), 3984 5-year survivors of childhood cancer of European-ancestry from the Childhood Cancer Survivor Study (CCSS) were evaluated for discovery and 1467 survivors from the St. Jude Lifetime (SJLIFE) cohort for replication. Childhood cancer-related PTSD symptoms were assessed using the Posttraumatic Stress Diagnostic Scale in CCSS. GWAS was performed in CCSS using logistic regression and lead markers were replicated/meta-analyzed using SJLIFE. Cross-associations of identified loci were examined between CCS and the general population. PTSD criteria were met for 671 participants in CCSS and 161 in SJLIFE. Locus 10q26.3 was significantly associated with PTSD (rs34713356, functionally mapped to ECHS1, P = 1.36 × 10–8, OR 1.57), and was replicated in SJLIFE (P = 0.047, OR 1.37). Variants in locus 6q24.3-q25.1 reached marginal significance (rs9390543, SASH1, P = 3.56 × 10–6, OR 0.75) in CCSS and significance when meta-analyzing with SJLIFE (P = 2.02 × 10–8, OR 0.75). Both loci were exclusively associated with PTSD in CCS rather than PTSD/stress-related disorders in general population (P-for-heterogeneity < 5 × 10–6). Our CCS findings support the role of genetic variation in PTSD development and may provide implications for understanding PTSD heterogeneity.

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“…Other mitochondrial diseases are not listed but reviewed elsewhere [ 347 – 349 ]. In addition to the abnormal neuroimaging results and biochemical indications, patients with mitochondrial diseases also experience cognitive problems such as memory impairment, perception deficits, and language deficits [ 350 – 352 ], as well as mental health problems like psychosis, chronic confusional states, hallucinations, personality change, or unsteadiness [ 353 – 355 ].…”

Section: Mitochondria Dysfunctions In Neurological Diseases and Neuro...mentioning

confidence: 99%

Focusing on mitochondria in the brain: from biology to therapeutics

Song,

Mei,

Wang

et al. 2024

Transl Neurodegener

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Mitochondria have multiple functions such as supplying energy, regulating the redox status, and producing proteins encoded by an independent genome. They are closely related to the physiology and pathology of many organs and tissues, among which the brain is particularly prominent. The brain demands 20% of the resting metabolic rate and holds highly active mitochondrial activities. Considerable research shows that mitochondria are closely related to brain function, while mitochondrial defects induce or exacerbate pathology in the brain. In this review, we provide comprehensive research advances of mitochondrial biology involved in brain functions, as well as the mitochondria-dependent cellular events in brain physiology and pathology. Furthermore, various perspectives are explored to better identify the mitochondrial roles in neurological diseases and the neurophenotypes of mitochondrial diseases. Finally, mitochondrial therapies are discussed. Mitochondrial-targeting therapeutics are showing great potentials in the treatment of brain diseases.

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Schizophrenia-like symptoms in a patient with Leigh syndrome

Cited by 10 publications

References 22 publications

Neuropsychological and Psychiatric Features of Children and Adolescents Affected With Mitochondrial Diseases: A Systematic Review

Neuropsychological and Psychiatric Features of Children and Adolescents Affected With Mitochondrial Diseases: A Systematic Review

Genome-wide association study of posttraumatic stress disorder among childhood cancer survivors: results from the Childhood Cancer Survivor Study and the St. Jude Lifetime Cohort

Focusing on mitochondria in the brain: from biology to therapeutics

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