ReviewCurrent neurology and neuroscience reports2002
The spinocerebellar ataxias: order emerges from chaos.
Review in Current neurology and neuroscience reports, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 83 citations in OpenAlex.
- Magnetic resonance imaging for spinocerebellar ataxia: a bibliometric analysis based on web of science.Frontiers in neurology · 2025Pooled it
- Spinocerebellar ataxia type 40: A case report and literature review.Translational neuroscience · 2021Article
- Spinocerebellar Atrophy Type-3 with Chiari Malformation in a Young Man: A Case Report.Advanced journal of emergency medicine · 2020Article
- STRetch: detecting and discovering pathogenic short tandem repeat expansions.Genome biology · 2018Article
- Superficial Siderosis of the Central Nervous System due to Spinal Ependymoma.Annals of geriatric medicine and research · 2018Article
- Epidemiological, clinical, and molecular characterization of Cuban families with spinocerebellar ataxia type 3/Machado-Joseph disease.Cerebellum & ataxias · 2015Article
- Toward understanding Machado-Joseph disease.Progress in neurobiology · 2012Review
- Ankyrin facilitates intracellular trafficking of alpha1-Na+-K+-ATPase in polarized cells.American journal of physiology. Cell physiology · 2008Article
- The cerebellum and migraine.Headache · 2007Review
- A novel trinucleotide repeat expansion at chromosome 3q26.2 identified by a CAG/CTG repeat expansion detection array.Human genetics · 2006Article
- An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains.American journal of human genetics · 2005Article
- Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes.BMC medical genetics · 2005Article
- A pathogenetic classification of hereditary ataxias: is the time ripe?Journal of neurology · 2004Review
- Genomic structure, promoter activity, and developmental expression of the mouse homologue of the Machado-Joseph disease (MJD) gene.Genomics · 2004Article
- Cognitive dysfunction in spinocerebellar ataxias.Dementia & neuropsychologiaReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
In the past decade, the genetic etiologies accounting for most cases of adult-onset dominant cerebellar ataxia have been discovered. This group of disorders, generally referred to as the spinocerebellar ataxias (SCAs), can now be classified by a simple genetic nosology, essentially a sequential list in which each new SCA is given a number. However, recent advances in the elucidation of SCA pathogenesis provide the opportunity to subclassify the disorders into three discrete groups based on pathogenesis: 1) the polyglutamine disorders, SCAs 1, 2, 3, 7, and 17, which result from proteins with toxic stretches of polyglutamine; 2) the channelopathies, SCA6 and episodic ataxia types 1 and 2 (EA1 and EA2), which result from disruption of calcium or potassium channel function; and 3) the gene expression disorders, SCAs 8, 10, and 12, which result from repeat expansions outside of coding regions that may quantitatively alter gene expression. SCAs 4, 5, 9, 11, 13-16, 19, 21, and 22 are of unknown etiology, and may or may not fit into one of these three groups. At present, most diagnostic and therapeutic strategies apply equally to all of the SCAs. Therapy specific for individual diseases or types of diseases is a realistic goal in the foreseeable future.
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What OpenQuestion holds
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.