ArticleThe Journal of clinical investigation2017
Mutations in the netrin-1 gene cause congenital mirror movements.
Article in The Journal of clinical investigation, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed, 59 citations in OpenAlex.
- Mirror movement disorder rehabilitation after epilepsy: A case report and video presentation.Turkish journal of physical medicine and rehabilitation · 2026Article
- Gait Alterations Due to DCC Gene Variants in Individuals with Congenital Mirror Movements.Movement disorders clinical practice · 2026Article
- Article
- Molecular Genetics of Primary Congenital Hypothyroidism: Established and Emerging Contributors to Thyroid Dysgenesis.International journal of molecular sciences · 2025Review
- EFNB3 Frameshift Variant in Weimaraner Dogs with a Condition Resembling a Congenital Mirror Movement Disorder.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Corticospinal Tract Development, Evolution, and Skilled Movements.Movement disorders : official journal of the Movement Disorder Society · 2025Review
- Genetics of primary congenital hypothyroidism: three decades of discoveries and persisting etiological challenges.European thyroid journal · 2025Review
- A stable NTN1 fluorescent reporter chicken reveals cell specific molecular signatures during optic fissure closure.Scientific reports · 2025Article
- A Novel De Novo Missense Variant in Netrin-1 (NTN1) Associated With Chorioretinal Coloboma, Sensorineural Hearing Loss and Polydactyly.Clinical genetics · 2025Article
- Ventricular Netrin-1 deficiency leads to defective pyramidal decussation and mirror movement in mice.Cell death & disease · 2024Article
- NeuroLab 2.0: An Alternative Storyline Design Approach for Translating a Research-Based Summer Experience into an Advanced STEM+M Curriculum Unit that Supports Three-Dimensional Teaching and Learning in the Classroom.Journal of STEM outreach · 2024Article
- Insights from the neural guidance factor Netrin-1 into neurodegeneration and other diseases.Frontiers in molecular neuroscience · 2024Review
- Mitochondrial dysfunction as a target in spinal cord injury: intimate correlation between pathological processes and therapeutic approaches.Neural regeneration research · 2023Review
- A Reflection on Motor Overflow, Mirror Phenomena, Synkinesia and Entrainment.Movement disorders clinical practice · 2023Review
- Genetics of mirror movements identifies a multifunctional complex required for Netrin-1 guidance and lateralization of motor control.Science advances · 2023Article
- Noncanonical Roles of RAD51.Cells · 2023Review
- Heparin Mimetics and Their Impact on Extracellular Matrix Protein Assemblies.Pharmaceuticals (Basel, Switzerland) · 2023Article
- Article
- Genetics of congenital hypothyroidism: Modern concepts.Pediatric investigation · 2022Review
- The netrin-1 receptor DCC promotes the survival of a subpopulation of midbrain dopaminergic neurons: Relevance for ageing and Parkinson's disease.Journal of neurochemistry · 2022Article
Corrections and comments
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Authors and funding
27 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Netrin-1 is a secreted protein that was first identified 20 years ago as an axon guidance molecule that regulates midline crossing in the CNS. It plays critical roles in various tissues throughout development and is implicated in tumorigenesis and inflammation in adulthood. Despite extensive studies, no inherited human disease has been directly associated with mutations in NTN1, the gene coding for netrin-1. Here, we have identified 3 mutations in exon 7 of NTN1 in 2 unrelated families and 1 sporadic case with isolated congenital mirror movements (CMM), a disorder characterized by involuntary movements of one hand that mirror intentional movements of the opposite hand. Given the diverse roles of netrin-1, the absence of manifestations other than CMM in NTN1 mutation carriers was unexpected. Using multimodal approaches, we discovered that the anatomy of the corticospinal tract (CST) is abnormal in patients with NTN1-mutant CMM. When expressed in HEK293 or stable HeLa cells, the 3 mutated netrin-1 proteins were almost exclusively detected in the intracellular compartment, contrary to WT netrin-1, which is detected in both intracellular and extracellular compartments. Since netrin-1 is a diffusible extracellular cue, the pathophysiology likely involves its loss of function and subsequent disruption of axon guidance, resulting in abnormal decussation of the CST.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.