ArticleHuman molecular genetics2008
A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20.
Article in Human molecular genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 138 citations in OpenAlex.
- Decoding the Alphabet Soup: A Practical Guide to Genetic Testing in Hyperkinetic Movement Disorders.Tremor and other hyperkinetic movements (New York, N.Y.) · 2025Pooled it
- Article
- Tremor and Ataxia in Paraneoplastic Anti-Diacylglycerol Lipase Alpha (DAGLA) Cerebellitis.Cerebellum (London, England) · 2025Article
- Genetic modeling of degenerative diseases and mechanisms of neuronal regeneration in the zebrafish cerebellum.Cellular and molecular life sciences : CMLS · 2024Review
- Identification of DAGLA as an autoantibody target in cerebellar ataxia.Journal of neurology, neurosurgery, and psychiatry · 2024Article
- An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches.Cerebellum (London, England) · 2024Review
- Identification of Extremely Rare Pathogenic CNVs by Array CGH in Saudi Children with Developmental Delay, Congenital Malformations, and Intellectual Disability.Children (Basel, Switzerland) · 2023Article
- Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.Brain : a journal of neurology · 2022Article
- Spinocerebellar ataxias (SCAs) caused by common mutations.Neurogenetics · 2021Review
- Eye movement changes in autosomal dominant spinocerebellar ataxias.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Review
- Dilemma of multiple system atrophy and spinocerebellar ataxias.Journal of neurology · 2018Review
- Outer nuclear membrane protein Kuduk modulates the LINC complex and nuclear envelope architecture.The Journal of cell biology · 2017Article
- Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.Neuroscience and biobehavioral reviews · 2017Review
- The autosomal dominant spinocerebellar ataxias: emerging mechanistic themes suggest pervasive Purkinje cell vulnerability.Journal of neurology, neurosurgery, and psychiatry · 2015Review
- A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome.Movement disorders : official journal of the Movement Disorder Society · 2015Article
- Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.Cerebellum (London, England) · 2014Article
- Recent advances in the genetics of cerebellar ataxias.Current neurology and neuroscience reports · 2012Review
- Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics.Orphanet journal of rare diseases · 2011Review
- Towards a complete resolution of the genetic architecture of disease.Trends in genetics : TIG · 2010Article
- Cellular and molecular pathways triggering neurodegeneration in the spinocerebellar ataxias.Cerebellum (London, England) · 2010Review
Corrections and comments
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Authors and funding
13 authors at 8 institutions in 3 countries.
Funding
Abstract
Spinocerebellar ataxia type 20 (SCA20) has been linked to chromosome 11q12, but the underlying genetic defect has yet to be identified. We applied single-nucleotide polymorphism genotyping to detect structural alterations in the genomic DNA of patients with SCA20. We found a 260 kb duplication within the previously linked SCA20 region, which was confirmed by quantitative polymerase chain reaction and fiber fluorescence in situ hybridization, the latter also showing its direct orientation. The duplication spans 10 known and 2 unknown genes, and is present in all affected individuals in the single reported SCA20 pedigree. While the mechanism whereby this duplication may be pathogenic remains to be established, we speculate that the critical gene within the duplicated segment may be DAGLA, the product of which is normally present at the base of Purkinje cell dendritic spines and contributes to the modulation of parallel fiber-Purkinje cell synapses.
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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.