ArticleBrain communications2020
Novel translational phenotypes and biomarkers for creatine transporter deficiency.
Article in Brain communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 20 citations in OpenAlex.
- Connectomic and behavioural alterations in creatine transporter deficiency are partially normalized by gene therapy.Brain : a journal of neurology · 2026Article
- Advancing clinical insight into creatine transporter deficiency: long term outcome and new observations from the Italian cohort.Orphanet journal of rare diseases · 2026Observational
- fNIRS as a biomarker for X-linked neurodevelopmental disorders: leveraging visual processing to assess brain function?Frontiers in neuroscience · 2025Article
- A Potential Biomarker of Brain Activity in Autism Spectrum Disorders: A Pilot fNIRS Study in Female Preschoolers.Brain sciences · 2023Article
- Cell-specific vulnerability to metabolic failure: the crucial role of parvalbumin expressing neurons in creatine transporter deficiency.Acta neuropathologica communications · 2023Article
- Minocycline prevents hypoxia-induced seizures.Frontiers in neural circuits · 2023Article
- Dodecyl creatine ester improves cognitive function and identifies key protein drivers including KIF1A and PLCB1 in a mouse model of creatine transporter deficiency.Frontiers in molecular neuroscience · 2023Article
- Article
- Creatine transporter-deficient rat model shows motor dysfunction, cerebellar alterations, and muscle creatine deficiency without muscle atrophy.Journal of inherited metabolic disease · 2022Article
- The amplitude of fNIRS hemodynamic response in the visual cortex unmasks autistic traits in typically developing children.Translational psychiatry · 2022Article
- Looking for "fNIRS Signature" in Autism Spectrum: A Systematic Review Starting From Preschoolers.Frontiers in neuroscience · 2022Review
- Review
- Cyclocreatine treatment ameliorates the cognitive, autistic and epileptic phenotype in a mouse model of Creatine Transporter Deficiency.Scientific reports · 2020Article
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Creatine transporter deficiency is a metabolic disorder characterized by intellectual disability, autistic-like behaviour and epilepsy. There is currently no cure for creatine transporter deficiency, and reliable biomarkers of translational value for monitoring disease progression and response to therapeutics are sorely lacking. Here, we found that mice lacking functional creatine transporter display a significant alteration of neural oscillations in the EEG and a severe epileptic phenotype that are recapitulated in patients with creatine transporter deficiency. In-depth examination of knockout mice for creatine transporter also revealed that a decrease in EEG theta power is predictive of the manifestation of spontaneous seizures, a frequency that is similarly affected in patients compared to healthy controls. In addition, knockout mice have a highly specific increase in haemodynamic responses in the cerebral cortex following sensory stimuli. Principal component and Random Forest analyses highlighted that these functional variables exhibit a high performance in discriminating between pathological and healthy phenotype. Overall, our findings identify novel, translational and non-invasive biomarkers for the analysis of brain function in creatine transporter deficiency, providing a very reliable protocol to longitudinally monitor the efficacy of potential therapeutic strategies in preclinical, and possibly clinical, studies.
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