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Features include: Dysmetria, Shrinkage of the cerebellum (cerebellar atrophy), Gait ataxia, and Dysarthria and 6 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 4 | Gait ataxia, Dysarthria, Sensory axonal neuropathy |
Eyes |
PLD3 function has not been fully characterized.
Spinocerebellar ataxia 46 is associated with mutations in the PLD3 gene on chromosome 19.
Genetic testing for PLD3 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for spinocerebellar ataxia 46 has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for spinocerebellar ataxia 46.
40 publications have been identified in PubMed for spinocerebellar ataxia 46. Research spans Review / Meta-Analysis (25%), Case Report / Case Series (20%), and Epidemiology / Natural History (18%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 10 | 25% |
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 9:44 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
3
Nystagmus, Slow saccadic eye movements, Jerky ocular pursuit movements |
Muscles | 1 | Shrinkage of the cerebellum (cerebellar atrophy) |
Arms and legs | 1 | Limb ataxia |
8 |
20% |
Disease patterns and progression | 7 | 18% |
Testing and diagnosis research | 5 | 13% |
Laboratory research | 5 | 13% |
Clinical study results | 2 | 5% |
New treatment approaches | 2 | 5% |
Other research | 1 | 3% |
Gold DR (2026). [PMID: 40693779](https://pubmed.ncbi.nlm.nih.gov/40693779/). *J Neuroophthalmol*. [Case Report / Case Series]
Unknown (2026). [PMID: 41700957](https://pubmed.ncbi.nlm.nih.gov/41700957/). *J Neuroophthalmol*. [Review / Meta-Analysis]
Salari M (2026). [PMID: 41922636](https://pubmed.ncbi.nlm.nih.gov/41922636/). *Cerebellum*. [Case Report / Case Series]
Vinciguerra M (2026). [PMID: 41771847](https://pubmed.ncbi.nlm.nih.gov/41771847/). *Cell Death Dis*. [Basic Science / Preclinical]
Hale DE (2026). [PMID: 41700956](https://pubmed.ncbi.nlm.nih.gov/41700956/). *J Neuroophthalmol*. [Case Report / Case Series]
Ransdell JL (2026). [PMID: 41558966](https://pubmed.ncbi.nlm.nih.gov/41558966/). *J Neurosci*. [Basic Science / Preclinical]
Cui ML (2026). [PMID: 41138689](https://pubmed.ncbi.nlm.nih.gov/41138689/). *Gait Posture*. [Diagnostic / Biomarker]
Vieira AA (2026). [PMID: 41770293](https://pubmed.ncbi.nlm.nih.gov/41770293/). *Cerebellum*. [Case Report / Case Series]
Perry CM (2026). [PMID: 41813136](https://pubmed.ncbi.nlm.nih.gov/41813136/). *J Neurosci*. [Review / Meta-Analysis]
Baptista AF (2025). [PMID: 41249511](https://pubmed.ncbi.nlm.nih.gov/41249511/). *Cerebellum*. [Clinical Trial Publication]
AI-curated news mentioning spinocerebellar ataxia 46
Updated Jun 3, 2026
A recent study published in PubMed highlights the frequency of ZFHX3-mediated spinocerebellar ataxia 4 in a US cohort of undiagnosed ataxia patients. This research contributes to the understanding of genetic factors in ataxia, potentially aiding in diagnosis and treatment strategies.