SCA10_ATXN10
- Gene
- ATXN10
- Disease
- SCA10
- Inheritance
- AD
- Classification
- Definitive
- Total Score
- 14
- Publications Reviewed
- 4
- Publication Span
- 25.41 years
- Last Updated
- 08/12/2025
- Curator(s)
- Macayla Weiner, Laural Hiatt
Description
SCA10 is an autosomal dominant spinocerebellar ataxia characterized by cerebellar ataxia with variable seizures, caused by a large ATTCT pentanucleotide repeat expansion in intron 9 of ATXN10. Genetic evidence includes linkage to chromosome 22q13, segregation/haplotype evidence in SCA10 families, absence or low frequency of disease-associated haplotypes/expansions in controls, and repeat-size/structure variability. Experimental evidence supports ATXN10/Atx-10 as an important neuronal and cellular protein.
Genetic evidence
Total: 12
| Singular Evidence | Probands | PMID:19234597 | 6 | Six unrelated SCA10 families were analyzed (three Brazilian, two Mexican mapping families, and one early-onset Mexican patient), comprising 34 SCA10 expansion carriers and 20 relatives with cerebellar ataxia and variable seizures. |
| Collective Evidence | Allele | PMID:11017075 | 1 | An inverse correlation has been observed between the expansion size and the age of onset (r2=0.34, P=0.018). |
| Collective Evidence | Segregation | PMID:9973298 | 1.5 | A four-generation Mexican-American autosomal dominant SCA pedigree showed linkage to chromosome 22q13, with maximum two-point LOD score 4.30 at D22S928 and D22S1161 (θ=0) and informative haplotypes defining recombination events. |
| Statistics | Case-control data | PMID:19234597 | 6 | SCA10 expanded chromosomes shared conserved intragenic/flanking haplotypes; 154 control chromosomes from Brazilian, Mexican, and Portuguese populations were analyzed for haplotype frequencies and showed low-frequency disease-associated flanking haplotypes. |
4 rows
Experimental evidence
Total: 2
| Function | Regulatory impact | PMID:11017075 PMID:38467784 | 1 | pmid:11017075 notes that the large intronic ATTCT expansion could affect ATXN10 transcription or post-transcriptional processing, but preliminary northern blot data showed no obvious SCA10 mRNA change in patient lymphoblastoid cells; pmid:38467784 provides review-level context that STR sequence composition can affect gene expression. |
| Functional Alteration | Patient cells | PMID:11017075 | 1 | Patient lymphoblastoid cells were used for western blotting to exclude expanded polyglutamine proteins and for preliminary northern blot analysis showing no obvious SCA10 mRNA level change; disease-relevant patient-cell functional alteration was not demonstrated. |
2 rows
Note: Maximum score caps apply at evidence type, category, and supercategory levels, so section totals may be lower than the raw sum of row scores.