ArticleThe Journal of clinical investigation2021
Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia.
Article in The Journal of clinical investigation, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 36 citations in OpenAlex.
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- Shared Transcriptomic Signatures in Perilesional and Contralesional Cortex.bioRxiv : the preprint server for biology · 2026Article
- Intracerebroventricular infusion of exercise donor plasma exosomes induces molecular changes indicating exercise-like adaptations in basal ganglia cells of older male rats.Frontiers in aging neuroscience · 2026Article
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- Cerebellar deep brain stimulation as a dual-function therapeutic for restoring movement and sleep in dystonic mice.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024Article
- Single-nucleus multiomics reveals the gene-regulatory networks underlying sex determination of murine primordial germ cells.bioRxiv : the preprint server for biology · 2024Article
- Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights.Journal of medical genetics · 2024Article
- Genetic Update and Treatment for Dystonia.International journal of molecular sciences · 2024Review
- A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.American journal of human genetics · 2024Article
- Systemic inflammation, neuroinflammation and perioperative neurocognitive disorders.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2023Review
- A Systematic Compilation of Human SH3 Domains: A Versatile Superfamily in Cellular Signaling.Cells · 2023Review
- Cerebellar Dysfunction as a Source of Dystonic Phenotypes in Mice.Cerebellum (London, England) · 2023Article
- Genetic analysis of dystonia-related genes in Parkinson's disease.Frontiers in aging neuroscience · 2023Article
- Neuronal mechanism of a BK channelopathy in absence epilepsy and dyskinesia.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Quantification of Behavioral Deficits in Developing Mice With Dystonic Behaviors.Dystonia (Lausanne, Switzerland) · 2022Article
- Impaired Pre-Motor Circuit Activity and Movement in a Drosophila Model of KCNMA1-Linked Dyskinesia.Movement disorders : official journal of the Movement Disorder Society · 2021Article
- Emerging and converging molecular mechanisms in dystonia.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
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Authors and funding
35 authors at 12 institutions in 5 countries.
Funding
Abstract
Dystonia is a debilitating hyperkinetic movement disorder, which can be transmitted as a monogenic trait. Here, we describe homozygous frameshift, nonsense, and missense variants in TSPOAP1, which encodes the active-zone RIM-binding protein 1 (RIMBP1), as a genetic cause of autosomal recessive dystonia in 7 subjects from 3 unrelated families. Subjects carrying loss-of-function variants presented with juvenile-onset progressive generalized dystonia, associated with intellectual disability and cerebellar atrophy. Conversely, subjects carrying a pathogenic missense variant (p.Gly1808Ser) presented with isolated adult-onset focal dystonia. In mice, complete loss of RIMBP1, known to reduce neurotransmission, led to motor abnormalities reminiscent of dystonia, decreased Purkinje cell dendritic arborization, and reduced numbers of cerebellar synapses. In vitro analysis of the p.Gly1808Ser variant showed larger spike-evoked calcium transients and enhanced neurotransmission, suggesting that RIMBP1-linked dystonia can be caused by either reduced or enhanced rates of spike-evoked release in relevant neural networks. Our findings establish a direct link between dysfunction of the presynaptic active zone and dystonia and highlight the critical role played by well-balanced neurotransmission in motor control and disease pathogenesis.
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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.