ArticlePloS one2017
First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
17 citing papers in PubMed, 25 citations in OpenAlex.
- Another common genetic ataxia in South Korea: Spinocerebellar ataxia 36.European journal of human genetics : EJHG · 2026Article
- Spinocerebellar Ataxia Type 10 (SCA 10) in Brazil.Cerebellum (London, England) · 2025Review
- ATXN10 Gene Expansions in Mexican Patients with Ataxia Without Epilepsy.Cerebellum (London, England) · 2025Article
- Extended haplotype with rs41524547-G defines the ancestral origin of SCA10.Human molecular genetics · 2024Article
- Spinocerebellar Ataxia Type 10 with Atypical Clinical Manifestation in Han Chinese.Cerebellum (London, England) · 2023Article
- Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter Denovo.Neurology. Genetics · 2022Article
- Mechanistic and Therapeutic Insights into Ataxic Disorders with Pentanucleotide Expansions.Cells · 2022Review
- Review
- The genetic and molecular features of the intronic pentanucleotide repeat expansion in spinocerebellar ataxia type 10.Frontiers in genetics · 2022Review
- Volumetric MRI Changes in Spinocerebellar Ataxia (SCA3 and SCA10) Patients.Cerebellum (London, England) · 2020Article
- Founder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean.Cerebellum (London, England) · 2020Review
- Genetic Analysis of Hereditary Ataxias in Peru Identifies SCA10 Families with Incomplete Penetrance.Cerebellum (London, England) · 2020Article
- Spinocerebellar ataxia type 10 (SCA10): Mutation analysis and common haplotype based inference suggest its rarity in Indian population.eNeurologicalSci · 2019Article
- Clinical and Genetic Evaluation of Spinocerebellar Ataxia Type 10 in 16 Brazilian Families.Cerebellum (London, England) · 2019Article
- ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population.Cerebellum (London, England) · 2019Article
- The Geographic Diversity of Spinocerebellar Ataxias (SCAs) in the Americas: A Systematic Review.Movement disorders clinical practice · 2019Review
- Haplotype Study in SCA10 Families Provides Further Evidence for a Common Ancestral Origin of the Mutation.Neuromolecular medicine · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spinocerebellar ataxia type 10 (SCA10) is an autosomal-dominant cerebellar ataxia that is variably accompanied by epilepsy and other neurological disorders. It is caused by an expansion of the ATTCT pentanucleotide repeat in intron 9 of the ATXN10 gene. Until now, SCA10 was almost exclusively found in the American continents, while no cases had been identified in Japan. Here, we report the first case of an SCA10 family from Japan. The clinical manifestations in our cases were cerebellar ataxia accompanied by epilepsy, hyperreflexia and cognitive impairment. Although the primary pathology in SCA10 in humans is reportedly the loss of Purkinje cells, brain MRI revealed frontal lobe atrophy with white matter lesions. This pathology might be associated with cognitive dysfunction, indicating that the pathological process is not limited to the cerebellum. Examination of the SNPs surrounding the SCA10 locus in the proband showed the "C-expansion-G-G-C" haplotype, which is consistent with previously reported SCA10-positive individuals. This result was consistent with the findings that the SCA10 mutation may have occurred before the migration of Amerindians from East Asia to North America and the subsequent spread of their descendants throughout North and South America.
Indexed as
Identifiers
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.