DeCure's autonomous Neuro AI scientist is researching a drug-repurposing hypothesis for spinocerebellar ataxia type 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 moduleSpinocerebellar ataxia type 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 spinocerebellar ataxia type 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
A 2005 study of an Australian family with spinocerebellar ataxia type 14 (SCA14) identified a novel mutation in exon 5 of the PRKCG gene, altering a highly conserved cysteine to a phenylalanine at codon 150, with detailed clinical observations recorded in six affected family members. A 2007 review noted that SCA14 is caused by conventional (non-repeat) mutations in the PRKCG gene, and that newly discovered conventional mutations in spinocerebellar ataxias suggest a wide range of biological pathways can be disrupted to cause progressive ataxia. The same review stated that less is known about pathogenic mechanisms in SCAs due to noncoding repeats, though a toxic RNA effect remains possible, and that both protein misfolding and perturbations in nuclear events represent key events in polyglutamine SCA pathogenesis.
A 1993 double-blind cross-over trial of a single 100 mg oral dose of amantadine hydrochloride in 12 patients with Friedreich's disease and 2 with autosomal dominant cerebellar ataxia found no significant effect of amantadine. No other drug trials for SCA14 or any spinocerebellar ataxia are reported in the provided abstracts. A 2013 review of physical therapy for spinocerebellar ataxia found 13 studies that reported improvement of symptoms, but noted methodological limitations and the need for greater rigour in future research. A 2025 review stated that although these diseases are incurable, research results show that certain medications and physical therapy can alleviate symptoms of cerebellar ataxia, and that there are high hopes for developing gene therapy methods that will slow or stop disease progression.
A 2023 review cautioned that stem cells may not be the answer for all such diseases, and that the indications, ethical considerations, and potential side effects of stem cell therapy must be known to physicians and patients. A 2021 book covered new approaches to medical and non-medical treatment including rehabilitation and palliative care, as well as stem cell interventions. What is still missing for SCA14 specifically are any controlled trials of any drug, any gene therapy in clinical testing, and any validated patient stratification for treatment response.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Current Opinion in Neurology · 2007 · 151 citations
Spinocerebellar ataxias: an update
AbstractPURPOSE OF REVIEW: Here we discuss recent advances regarding the molecular genetic basis of dominantly inherited ataxias. RECENT FINDINGS: Important recent observations include insights into the mechanisms by which expanded polyglutamine causes cerebellar degeneration; new findings regarding how noncoding expansions may cause disease; the discovery that conventional (i.e. nonrepeat) mutations underlie recently identified ataxias; and growing recognition that multiple biological pathways, when perturbed, can cause cerebellar degeneration. SUMMARY: The dominant ataxias, also known as spinocerebellar ataxias, continue to grow in number. Here we review the major categories of spinocerebellar ataxias: expanded polyglutamine ataxias; noncoding repeat ataxias; and ataxias caused by conventional mutations. After discussing features shared by these disorders, we present recent evidence supporting a toxic protein mechanism for the polyglutamine spinocerebellar ataxias and the recognition that both protein misfolding and perturbations in nuclear events represent key events in pathogenesis. Less is known about pathogenic mechanisms in spinocerebellar ataxias due to noncoding repeats, though a toxic RNA effect remains possible. Newly discovered, conventional mutations in spinocerebellar ataxias suggest a wide range of biological pathways can be disrupted to cause progressive ataxia. Finally, we discuss how new mechanistic insights can drive the push toward preventive treatment.
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · 1993 · 27 citations · open access
A Double-Blind Cross-over Trial of Amantadine Hydrochloride in Friedreich's Ataxia
AbstractWe performed a double-blind cross-over study with amantadine hydrochloride in 12 patients with Friedreich's disease and 2 with autosomal dominant cerebellar ataxia. Patients were randomly assigned to a placebo-amantadine or amantadine-placebo sequence. The interval between the treatments was two weeks. Patients were graded according to a functional ataxia scoring scale and videotaped in basal conditions and 90 min after a single oral dose of 100 mg amantadine or placebo. Three evaluators independently scored the videotapes. Statistical analysis showed no significant effect of amantadine in Friedreich's disease.
Journal of Neurology Neurosurgery & Psychiatry · 2005 · 26 citations · open access
Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene
AbstractWe report our observations in an Australian family with spinocerebellar ataxia type 14 (SCA 14). We describe a novel mutation in exon 5 of the PRKCG gene, altering a highly conserved cysteine to a phenylalanine at codon 150, and record the detailed clinical observations in six affected family members.
Revista Neurociências · 2013 · 3 citations · open access
Atendimento Fisioterapêutico para Indivíduos com Ataxia Espinocerebelar: Uma Revisão da Literatura
AbstractThe spinocerebellar ataxia (SCA) is a disorder characterized by deficits in the execution of coordinated movements with progressive postural sway associated with difficulty in maintaining balance and various other motor disorders. The gait may be ataxic, with broadening the base of support, instability, irregular steps and slow, lateropulsion and trembling in range of motion, so that physical therapy is an important alternative for the improvement of the disorders of this pathology. Objective. Make, based on scientific literature, a review of physical therapy strategies in the treatment of spinocerebellar ataxia. Method. The study researches the databases Medline and SciELO from 2001 to 2011, considering the following keywords: ataxia espinocerebelar, Fisioterapia, tratamento, reabilitação and its correlates in English. Results. We found 33 studies that had as its main theme ataxia, 20 articles were excluded because they did not report the physical therapy approach for this type of pathology. After review, 13 references were used. Conclusions. After this study, the importance of physical therapy in the treatment of patients with SCA becomes obvious, according to the benefits promoted, as all studies found an improvement of symptoms of this pathology. Methodological limitations observed suggest the need for greater rigor in future research.
IntechOpen eBooks · 2021 · 1 citations · open access
Spinocerebellar Ataxia - Concepts, Particularities and Generalities
AbstractThis book is about spinocerebellar ataxia (SCA), which is among the most challenging pathologies in the neurological landscape. It covers basic concepts, functional classification, and new approaches to medical and non-medical treatment including rehabilitation/palliative care approaches. The volume also describes a wide spectrum of generalities and particularities about various forms of clinical and genetic presentations of ACS that have life-threatening characteristics and long-standing presentation with tremendous variability in presentation and clinical severity. In addition, the book presents important aspects of cerebellar anatomy, nutrition impact, genetic subtypes, and functional classification of medical and non-medical interventions related to stem cells, rehabilitation, and palliative care.
Annals of Movement Disorders · 2023 · 0 citations · open access
Stem cell therapy for spinocerebellar ataxias
AbstractStem cells have proved to be the “wonder treatment” for various genetic diseases and holds great potential for the treatment of numerous, but presently incurable maladies. However, stem cells may not be the answer for all such diseases. With the rampant growth of clinics offering stem cell therapy for almost every incurable disease, it is prudent that the indications, ethical considerations, and potential side effects of this treatment are known to the physicians and patients. In this article, we have summarized the available evidence on stem cell therapy in spinocerebellar ataxias.
Yakut Medical Journal · 2025 · 0 citations · open access
Approaches to the treatment of autosomal-dominant spinocerebellar ataxias
AbstractThe article is devoted to the prospects for the treatment of neurodegenerative diseases with dynamic mutations based on published studies of the search for approaches to the treatment of spinocerebellar ataxia. Although these diseases are incurable, research results show that certain medications and physical therapy can alleviate the symptoms of cerebellar ataxia. Due to the progress made in the study of spinocerebellar ataxia in recent years, there are high hopes that it will be possible to develop gene therapy methods that will slow down the progression of the disease or even stop its development.
AbstractBettencourt and colleagues address the possible relationships among known spinocerebellar ataxia (SCA) genes, predict their functions, identify overlapping pathways, and provide a framework for candidate gene discovery using whole-transcriptome expression data. They identified significant cell types and pathways in SCA pathogenesis.
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.
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