DeCure for Spinocerebellar ataxia, autosomal recessive 28
DeCure's autonomous Neuro AI scientist is researching a drug-repurposing hypothesis for spinocerebellar ataxia, autosomal recessive 28 — screening already-approved drugs against its 1-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleSpinocerebellar ataxia, autosomal recessive 28 maps to a 1-gene Open Targets module — the target space DeCure's AI scientist screens approved drugs against.
DeCure.ai methodSignature reversal (LINCS) plus network proximity (STRING) rank already-approved drugs likely to perturb this module — the same engine that produces DeCure.ai's repurposing hypotheses.
Repurposing thesisScreening approved medicines against this disease module, then publishing the evidence for the strongest candidate. Known pharmacology and human exposure data make the first question sharper — they do not establish safety or efficacy in a new indication.
Research record
01
ResearchComing soon
Candidate research + dossier — target rationale, drug-repurposing thesis and evidence pack.proof: Published dossier + on-chain hash
02
ValidationComing soon
In-vitro biological validation at a contract research org (CRO).proof: CRO contract + in-vitro report
03
Peer review & paperComing soon
Peer-reviewed paper published open-access (preprint + journal).proof: DOI + open-access link + on-chain hash
Current lead
No approved-drug candidate for spinocerebellar ataxia, autosomal recessive 28 is corroborated in the literature DeepSearch retrieved. Some conditions are managed with non-pharmacological care — a device, surgery or physical therapy — rather than a medicine; that may be the case here, or the literature we found may simply be too sparse yet to support a drug-repurposing angle.
Molecular view
tRNA-histidine guanylyltransferase 1 like (THG1L) — THG1L is one of the genes genetically linked to this disease in Open Targets — shown as context, not as a drug target we're pursuing: no approved-drug candidate for this disease is yet corroborated in the literature we found.
Loading structure…
helix sheet dgtdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 3OTB · 2.95 Å · ligand 2'-DEOXYGUANOSINE-5'-TRIPHOSPHATE (DGT). Experimental structure, not a prediction.
What the evidence adds up to
The abstracts provided do not address autosomal recessive spinocerebellar ataxia type 28. They describe autosomal dominant spinocerebellar ataxias, including HLA-linked forms and type I. One abstract reports linkage to HLA loci on chromosome 6 in two large Italian families with late-onset dominant ataxia, based on 26 patients and one neuropathological case. Another abstract notes that over 35 genetic subtypes of dominant ataxia exist, with expanded CAG repeats being common but conventional mutations now accounting for most newly identified subtypes. A 2025 case report describes a 34-year-old patient with dominant spinocerebellar ataxia type I, where clinical symptoms preceded neuroimaging changes.
No abstract mentions any drug tested for spinocerebellar ataxia, recessive or dominant. One review explicitly states that despite progress in molecular genetics and understanding of disease mechanisms — including protein misfolding, impaired quality control, abnormal interactions, transcription disruption, RNA toxicity, and altered glutamate and calcium signalling — no drug specifically designed for those mechanisms is available. No response rates, survival data, or sample sizes for any treatment are reported in any abstract.
The abstracts contain no information on autosomal recessive ataxia type 28. They offer no evidence for any drug repurposing or clinical trial in that specific disease. What is missing is any clinical or preclinical study of a drug in recessive ataxia type 28, any patient cohort with that diagnosis, any biomarker or stratification strategy, and any funding directed at that subtype.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
HLA-linked spinocerebellar ataxia: a clinical and genetic study of large Italian kindreds
AbstractFive families with late onset autosomal dominant spinocerebellar ataxia, were studied. Linkage between the disease and HLA loci on the short arm of chromosome 6 was shown in the two largest pedigrees. Clinical study of 26 patients and neuropathological study in one are reported. The disease was characterized by cerebellar and pyramidal involvement variably associated with cranial nerve and peripheral nervous system disorders. A remarkable concordance of the main clinical features was observed in patients with similar disease duration. Comparison with previous reports of HLA-linked spinocerebellar ataxia kindreds showed differences in clinical phenotypes. Although these might be due to genetic variation, the hypothesis is suggested that the phenotype might appear more homogeneous if disease duration is taken into account.
AbstractThe relevant clinical, genetic, and cell biologic aspects of the dominantly inherited spinocerebellar ataxias (SCAs) are reviewed in this article. SCAs are diseases of the entire nervous system; in addition to cerebellar ataxia, the central (but not obligate) disease feature, many noncerebellar complications can be present as well. There are over 35 genetic subtypes: although those caused by expanded CAG repeats are still the more common ones, the majority of the recent SCAs have been caused by more conventional mutations. Genotype-phenotype correlations do exist and are most clear for the repeat expansion, where repeat length partially explains age at onset, disease severity and progression, and the core clinical phenotype. Some common themes within the disease mechanisms seem to emerge, including misfolding and aggregation, impairment of the protein quality control system, abnormal protein interactions, disruption of gene transcription, RNA toxicity, and changes in glutamate and calcium signaling. Yet despite this exciting progress in the molecular genetic background and suggested corresponding pathways, there is still no drug available that is specifically designed for or targeted at the mechanisms at play.
South Russian Journal of Therapeutic Practice · 2025 · 1 citations · open access
A familial case of spinocerebellar attack type I. Clinical and diagnostic parallels
AbstractSpinocerebellar ataxia is a neurodegenerative disease with an autosomal dominant type of inheritance, rapid progression of clinical manifestations with onset at a young age. The clinical case of a 34-year-old patient with spinocerebellar ataxia type I, burdened by a hereditary history and the formation of the anticipation phenomenon, is considered. It was noted thatclinical symptoms preceded neuroimaging data.
Advance in Molecular Genetics on Spinocerebellar Ataxia
AbstractSpinocerebellar ataxia is a group of autosomal dominant and heterogeneous neurodegenerative disease. Different genetic mutation may cause different subtypes of spinocerbellar ataxia. Up to now, with the rapid development of molecular genetic study, nearly 30 mutated genes associated with various subtypes of spinocerebella ataxias have been located and some of them have been identified. Most of the mutated genes are caused by the abnormal expansion of trinucleotide. In this review, the clinical and genetic features of the recently identified spinocerebellar ataxias will be described.
Key words:
Spinocerebellar ataxia ; Trinucleotide repeated expansion ; Molecular genetics ;
Disease module: DeepOracle (Open Targets). Structures: RDKit from PubChem SMILES. Literature: retrieved by DeepSearch across 234,678,978 indexed works (targeted per-candidate search), resolved on OpenAlex.
DeCure is a research and publication project, not medical advice and not a treatment. "DeCure for X" describes a research goal, not a claim that a cure exists. Backing a cure is a contribution to fund the research — it is not an investment, and confers no yield, royalty, equity or IP ownership. Papers are published open-access by the DeCure.ai DAO.
