DeCure for Autosomal recessive spinocerebellar ataxia 14
DeCure's autonomous Neuro AI scientist is researching a drug-repurposing hypothesis for autosomal recessive spinocerebellar ataxia 14 — screening already-approved drugs against its 2-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleAutosomal recessive spinocerebellar ataxia 14 maps to a 2-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 autosomal recessive spinocerebellar ataxia 14 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
protein kinase C gamma (PRKCG) — PRKCG 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 plpdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 2UZP · 2.0 Å · ligand PYRIDOXAL-5'-PHOSPHATE (PLP). Experimental structure, not a prediction.
What the evidence adds up to
The three abstracts provided cover general spinocerebellar ataxia genetics and a specific subtype, spinocerebellar ataxia type 7, but none of them address autosomal recessive spinocerebellar ataxia 14. The 2005 review notes that molecular genetic research has identified many genes for both dominant and recessive ataxias, yet it does not name or discuss any specific recessive subtype, let alone SCAR14. The 2011 review is limited to dominantly inherited SCAs and therefore contains no information relevant to a recessive form. The 2025 paper focuses entirely on spinocerebellar ataxia type 7, a dominant ataxia characterised by cerebellar ataxia with cone-rod retinal dystrophy, and states that this condition remains incurable despite progress in understanding its genetics and molecular mechanisms.
No abstract mentions autosomal recessive spinocerebellar ataxia 14 by name, its causative gene, its clinical features, or any drug tested in it. The 2011 review explicitly states that for the dominant ataxias it covers, despite progress in understanding disease mechanisms such as protein misfolding, impaired quality control, and abnormal calcium signalling, there is still no drug specifically designed for or targeted at those mechanisms. This statement applies only to dominant SCAs and cannot be extrapolated to SCAR14.
What is missing for autosomal recessive spinocerebellar ataxia 14 specifically is any published clinical trial, any preclinical drug study, any patient cohort data, and any description of its natural history or molecular pathology in these abstracts. Without dedicated funding for natural history studies, without a defined patient stratification strategy, and without a trial design that accounts for the rarity and slow progression of the disease, no drug can be evaluated.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Recent Advances in Hereditary Spinocerebellar Ataxias
AbstractIn recent years, molecular genetic research has unraveled a major part of the genetic background of autosomal dominant and recessive spinocerebellar ataxias. These advances have also allowed insight in (some of) the pathophysiologic pathways assumed to be involved in these diseases. For the clinician, the expanding number of genes and genetic loci in these diseases and the enormous clinical heterogeneity of specific ataxia subtypes complicate management of ataxia patients. In this review, the clinical and neuropathologic features of the recently identified spinocerebellar ataxias are described, and the various molecular mechanisms that have been demonstrated to be involved in these disorders are discussed.
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.
Arquivos Brasileiros de Oftalmologia · 2025 · 0 citations · open access
Retinal degeneration in spinocerebellar ataxia type 7: an overview of the current knowledge
AbstractSpinocerebellar ataxia type 7 is a form of spinocerebellar ataxia, which is a clinically and genetically heterogeneous group of rare inherited neurodegenerative disorders. Among the spinocerebellar ataxias, the association between cerebellar ataxia and cone-rod retinal dystrophy is a strong indicator of spinocerebellar ataxia type 7. Spinocerebellar ataxia type 7 cone-rod dystrophy is a progressive, disabling, and incurable form of hereditary retinopathy. However, the field of genetics has markedly progressed in the last decades, which resulted in improved understanding of multiple aspects of spinocerebellar ataxia type 7 retinal degeneration and the emergence of new modalities of genetic therapies for other types of retinal dystrophies. This study aimed to evaluate the current knowledge on spinocerebellar ataxia type 7 retinal degeneration, including genetics and molecular mechanisms as well as their implications in pathogenesis, clinical manifestations, and potential therapeutic strategies.
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.
