ArticleAmerican journal of human genetics2012
VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families.
Article in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 54 citations in OpenAlex.
- Presynaptic Congenital Myasthenic Syndromes.Muscle & nerve · 2026Review
- Autophagy and mitophagy at the synapse and beyond: implications for learning, memory and neurological disorders.Autophagy · 2026Review
- Deciphering Spastic Ataxia: Clinical and Genetic Profiles.Neurology. Genetics · 2025Article
- VAMP proteins: molecular architects in disease pathogenesis and therapeutic innovation.Medical oncology (Northwood, London, England) · 2025Review
- Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases.Pediatric neurology · 2024Article
- Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals.Journal of human genetics · 2024Article
- Fast, precise and cloning-free knock-in of reporter sequences in vivo with high efficiency.Development (Cambridge, England) · 2023Article
- Similarity and Diversity of Presynaptic Molecules at Neuromuscular Junctions and Central Synapses.Biomolecules · 2022Review
- Membrane trafficking in health and disease.Disease models & mechanisms · 2020Review
- Quantitative Changes in the Mitochondrial Proteome of Cerebellar Synaptosomes From Preclinical Cystatin B-Deficient Mice.Frontiers in molecular neuroscience · 2020Article
- Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.American journal of human genetics · 2019Article
- The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.Human genetics · 2017Article
- Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.Neuroscience and biobehavioral reviews · 2017Review
- Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.Movement disorders : official journal of the Movement Disorder Society · 2017Review
- Novel synaptobrevin-1 mutation causes fatal congenital myasthenic syndrome.Annals of clinical and translational neurology · 2017Article
- Amyloid Precursor Protein (APP) May Act as a Substrate and a Recognition Unit for CRL4CRBN and Stub1 E3 Ligases Facilitating Ubiquitination of Proteins Involved in Presynaptic Functions and Neurodegeneration.The Journal of biological chemistry · 2016Article
- SNARE complex in developmental psychiatry: neurotransmitter exocytosis and beyond.Journal of neural transmission (Vienna, Austria : 1996) · 2016Review
- Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing.Journal of neurology · 2015Review
- De novo point mutations in patients diagnosed with ataxic cerebral palsy.Brain : a journal of neurology · 2015Article
- Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing.Journal of neurology · 2015Article
Corrections and comments
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Authors and funding
15 authors at 7 institutions in 1 country.
Funding
Abstract
Our group previously described and mapped to chromosomal region 12p13 a form of dominantly inherited hereditary spastic ataxia (HSA) in three large Newfoundland (Canada) families. This report identifies vesicle-associated membrane protein 1 (VAMP1), which encodes a critical protein for synaptic exocytosis, as the responsible gene. In total, 50 affected individuals from these families and three independent probands from Ontario (Canada) share the disease phenotype together with a disruptive VAMP1 mutation that affects a critical donor site for the splicing of VAMP1 isoforms. This mutation leads to the loss of the only VAMP1 isoform (VAMP1A) expressed in the nervous system, thus highlighting an association between the well-studied VAMP1 and a neurological disorder. Given the variable phenotype seen in the affected individuals examined here, we believe that VAMP1 should be tested for mutations in patients with either ataxia or spastic paraplegia.
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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.