ArticleJournal of neurology2016
Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations.
Article in Journal of neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 34 citations in OpenAlex.
- Novel homozygousTherapeutic advances in neurological disorders · 2026Article
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- Extending the Mutational Spectrum of SYNE1 Ataxia in Chinese Patients.Cerebellum (London, England) · 2025Article
- Diverse Roles of the LINC Complex in Cellular Function and Disease in the Nervous System.International journal of molecular sciences · 2024Review
- Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations.BMC neurology · 2022Article
- Autosomal recessive adult onset ataxia.Journal of neurology · 2022Article
- Autosomal Recessive Cerebellar Ataxia Type 1: Phenotypic and Genetic Correlation in a Cohort of Chinese Patients with SYNE1 Variants.Cerebellum (London, England) · 2021Article
- Syncrip/hnRNP Q is required for activity-induced Msp300/Nesprin-1 expression and new synapse formation.The Journal of cell biology · 2020Article
- Cognitive and Psychiatric Evaluation in SYNE1 Ataxia.Cerebellum (London, England) · 2019Article
- Article
- The KASH-containing isoform of Nesprin1 giant associates with ciliary rootlets of ependymal cells.Neurobiology of disease · 2018Article
- IdentifyingFrontiers in neurology · 2018Article
- SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2017Article
- Multiple Isoforms of Nesprin1 Are Integral Components of Ciliary Rootlets.Current biology : CB · 2017Article
- A novel frameshift mutation ofHuman genome variation · 2017Article
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
Abstract
The autosomal recessive spinocerebellar ataxias are an exciting field of study, with a growing number of causal genes and an expanding phenotypic spectrum. SYNE1 was originally discovered in 2007 as the causal gene underlying autosomal recessive spinocerebellar ataxia 1, a disease clinically thought to manifest with mainly pure cerebellar ataxia. Since the original report SYNE1 mutations have also been identified in families with motor neuronopathy and arthrogryposis but few families have been screened as the gene is very large at 146 exons in length. We screened 196 recessive and sporadic ataxia patients for mutations in SYNE1 using next generation sequencing in order to assess its frequency and extend the clinicogenetic spectrum. We identified four novel truncating mutations spread throughout the SYNE1 gene from three families living in London that originated from England, Turkey and Sri Lanka. The phenotype was mainly pure cerebellar ataxia in two families, cognitive decline was present in all three families, axonal neuropathy in one family and marked spasticity in the Turkish family, with a range of disease severities. Searching for genotype-phenotype correlations in the SYNE1 gene, defects located near the 3' prime end of the gene are more frequently associated with motor neuron or neuromuscular involvement so far. Our data indicate SYNE1 mutations are not an uncommon cause of recessive ataxia with or without additional clinical features in patients from various ethnicities. The use of next generation sequencing allows the rapid analysis of large genes and will likely reveal more SYNE1 associated cases and further expand genotype-phenotype correlations.
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