ArticleJournal of molecular medicine (Berlin, Germany)2013
The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism.
Article in Journal of molecular medicine (Berlin, Germany), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 53 citations in OpenAlex.
- Familial Cortical Myoclonic Tremor and Epilepsy, an Enigmatic Disorder: From Phenotypes to Pathophysiology and Genetics. A Systematic Review.Tremor and other hyperkinetic movements (New York, N.Y.) · 2018Pooled it
- Significance of NAD anabolism profiles in neurological diseases.Metabolic brain disease · 2026Review
- Epilepsy as a Disorder of Neuroimmune Metabolism: The Kynurenine Pathway as a Link Between Cognitive and Psychiatric Dysfunction.Biomolecules · 2026Review
- Kynurenine pathway in Parkinson's disease: pathophysiological roles and therapeutic interventions.Inflammopharmacology · 2026Review
- From individuals to ancestries: Towards attributing trait variation to haplotypes.PLoS genetics · 2025Article
- A zebrafish model of acmsd deficiency does not support a prominent role for ACMSD in Parkinson's disease.NPJ Parkinson's disease · 2025Article
- Sex differences in peripheral and central dysregulation of the kynurenine pathway in Parkinson's disease.NPJ Parkinson's disease · 2025Article
- Gut Microbiota Metabolite Messengers in Brain Function and Pathology at a View of Cell Type-Based Receptor and Enzyme Reaction.Biomolecules & therapeutics · 2024Review
- Association Study Between Kynurenine 3-Monooxygenase (KMO) Gene and Parkinson's Disease Patients.Molecular neurobiology · 2024Article
- Three candidate SNPs show associations with thyroid-stimulating hormone in euthyroid subjects: Tehran thyroid study.Journal of diabetes and metabolic disorders · 2024Article
- Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions.Epilepsia · 2023Review
- Pharmacological validation of TDO as a target for Parkinson's disease.The FEBS journal · 2021Article
- Review
- Tryptophan metabolism in brain tumors - IDO and beyond.Current opinion in immunology · 2021Review
- Genomic analysis of patients in a South Indian Community with autosomal dominant cortical tremor, myoclonus and epilepsy suggests a founder repeat expansion mutation in theBrain communications · 2021Article
- Kynurenine pathway in Parkinson's disease-An update.eNeurologicalSci · 2020Review
- Tryptophan Metabolites Are Associated With Symptoms and Nigral Pathology in Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2020Article
- Association of urinary concentrations of phthalate metabolites with quinolinic acid among women: A potential link to neurological disorders.Environment international · 2020Article
- High phthalate exposure increased urinary concentrations of quinolinic acid, implicated in the pathogenesis of neurological disorders: Is this a potential missing link?Environmental research · 2019Article
- ACMSD: A Novel Target for Modulating NADTrends in endocrinology and metabolism: TEM · 2019Article
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Authors and funding
10 authors at 8 institutions in 3 countries.
Funding
Abstract
unlabelledFamilial cortical myoclonic tremor and epilepsy is a phenotypically and genetically heterogeneous autosomal dominant disorder characterized by the presence of cortical myoclonic tremor and epilepsy that is often accompanied by additional neurological features. Despite the numerous familial studies performed and the number of loci identified, there is no gene associated with this syndrome. It is expected that through the application of novel genomic technologies, such as whole exome sequencing and whole genome sequencing, a substantial number of novel genes will come to light in the coming years. In this study, we describe the identification of two disease-segregating mutations in a large family featuring cortical myoclonic tremor with epilepsy and parkinsonism. Due to the previous association of ACMSD deficiency with the development of epileptic seizures, we concluded that the identified nonsense mutation in the ACMSD gene, which encodes for a critical enzyme of the kynurenine pathway of the tryptophan metabolism, is the disease-segregating mutation most likely to be responsible for the phenotype described in our family. This finding not only reveals the identification of the first gene associated with familial cortical myoclonic tremor and epilepsy but also discloses the kynurenine pathway as a potential therapeutic target for the treatment of this devastating syndrome. KEY MESSAGE: ACMSD is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism. ACMSD mutation contributes to the development of FCMTE QA accumulation is likely to play an important role in the pathogenesis of FCMTE. The kynurenine pathway as a potential drug target for the treatment of epilepsy.
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