DeCure's autonomous Neuro AI scientist is researching a drug-repurposing hypothesis for autosomal dominant cerebellar ataxia — screening already-approved drugs against its 15-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleAutosomal dominant cerebellar ataxia maps to a 15-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 dominant cerebellar ataxia 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
tau tubulin kinase 2 (TTBK2) — TTBK2 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 adpdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 6VRF · 1.5 Å · ligand ADENOSINE-5'-DIPHOSPHATE (ADP). Experimental structure, not a prediction.
What the evidence adds up to
The abstracts provided do not contain any clinical trial results, survival data, or response rates for autosomal dominant cerebellar ataxia. The 2023 review notes that hereditary ataxias include both dominant and recessive forms, and that advances in genetics and molecular pathophysiology have opened avenues for therapeutic strategies aimed at preventing or arresting disease progression. However, it explicitly states that the rarity of certain ataxia forms limits insight into disease etiology and target pathways, and that a lack of suitable models hampers testing of novel interventions. No drug is mentioned as effective for autosomal dominant cerebellar ataxia in any of these papers.
The 2020 and 2022 papers discuss treatable cerebellar ataxias, but these are predominantly autosomal recessive forms. The 2022 case series followed 25 patients with treatable ataxia over four years and concluded that early detection and close follow-up are beneficial, but it does not name any drug or report quantitative outcomes such as improvement scores. The 2011 review of autosomal recessive cerebellar ataxias confirms that many patients with a suspected recessive ataxia cannot yet be genotyped, indicating that more causative genes remain unknown.
The 1991 and 2001 abstracts describe single cases or families. The 2001 report documents permanent cerebellar ataxia caused by the chemotherapy drug cytosine arabinoside, which is a toxicity, not a treatment. The 1991 report describes a father and son with a nonprogressive dominant ataxia and notes that MRI showed generalised cerebellar atrophy, not the localised vermal atrophy previously reported. No therapeutic intervention is discussed.
What is still missing for autosomal dominant cerebellar ataxia specifically: adequately powered clinical trials, validated biomarkers for patient stratification, and funding for preclinical models that can test mechanism-based therapies. The existing literature focuses on recessive forms or on describing genetic heterogeneity, not on repurposing any drug for the dominant 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.
Journal of Medical Genetics · 2011 · 46 citations
Autosomal recessive cerebellar ataxias: the current state of affairs
AbstractAmong the hereditary ataxias, autosomal recessive cerebellar ataxias (ARCAs) encompass a diverse group of rare neurodegenerative disorders in which a cerebellar syndrome is the key clinical feature. The clinical overlap between the different cerebellar ataxias, the occasional atypical phenotypes, and the genetic heterogeneity often complicate the clinical management of such patients. Despite the steady increase in newly discovered ARCA genes, many patients with a putative ARCA cannot be genotyped yet, proving that more genes must be involved. This review presents an updated overview of the various ARCAs. The clinical and genetic characteristics of those forms with a known molecular genetic defect are discussed, along with the emerging insights in the underlying pathophysiological mechanisms.
Permanent cerebellar toxicity of cytosine arabinoside (Ara C) in a young woman
AbstractThis report provides the first videotape example of a patient with permanent cerebellar ataxia from high dose cytosine arabinoside. This case was unusual in that the patient was young, the effects are seemingly permanent and severe, and corticospinal tract damage also occurred. Early recognition to stop drug administration remains the only method to reduce risk.
An Extended Phenotype of an Early-Onset Inherited Nonprogressive Cerebellar Ataxia Syndrome
AbstractA father and son with presumed dominantly inherited, nonprogressive, early-onset cerebellar ataxia are reported. The clinical features are similar to those in other reports of this rare disorder, but magnetic resonance imaging revealed generalized atrophy of the cerebellum and not localized vermal atrophy as previously noted. This family illustrates either an extended phenotype of the previously reported disorder or possibly an unique type of autosomal dominant cerebellar ataxia.
Clinical Parkinsonism & Related Disorders · 2020 · 16 citations · open access
Treatable cerebellar ataxias
AbstractCerebellar ataxic syndrome is a heterogenous class of disorders which can result from a miscellany of causes- genetic or acquired. There are a few metabolic, immune mediated, inflammatory and hereditary causes of ataxia which can be diagnosed from the gamut of possibilities, offering great relief to the ailing patient, their family and the treating physician. A pragmatic algorithm for diagnosing treatable causes of ataxia includes a thorough clinical history, meticulous examination for associated signs and an investigative mind to clinch the diagnosis. With novel diagnostic techniques and targeted therapies, early diagnosis and treatment can lead to favourable outcomes. In this review, diseases presenting predominantly as cerebellar ataxia and are treatable by targeted therapies are discussed.
Clinical Case Reports · 2022 · 3 citations · open access
Follow‐up of 25 patients with treatable ataxia: A comprehensive case series study
AbstractAutosomal recessive cerebellar ataxias are a group of heterogeneous early-onset progressive disorders that some of them are treatable. We performed a 4-year follow-up for 25 patients who had treatable ataxia. According to our study, patients would benefit from early detection of treatable ataxia, close observation, and follow-up.
Hereditary Ataxias: From Bench to Clinic, where Do We Stand?
AbstractCerebellar ataxias are a wide heterogeneous group of movement disorders. Within this broad umbrella of diseases, there are both genetics and sporadic forms. The clinical presentation of these conditions can exhibit a diverse range of symptoms across different age groups, spanning from pure cerebellar manifestations to sensory ataxia and multisystemic diseases. Over the last few decades, advancements in our understanding of genetics and molecular pathophysiology related to both dominant and recessive ataxias have propelled the field forward, paving the way for in-novative therapeutic strategies aimed at preventing and arresting the progression of these diseas-es. Nevertheless, the rarity of certain forms of ataxia continues to pose challenges, leading to lim-ited insights into the etiology of the disease and the identification of target pathways. Addition-ally, the lack of suitable models hampers efforts to comprehensively understand the molecular foundations of disease pathophysiology and test novel therapeutic interventions. In the following review, we describe the epidemiology, symptomatology, and pathological progression of heredi-tary ataxia, including both the prevalent and less common forms of these diseases. Furthermore, we illustrate the diverse molecular pathways and therapeutic approaches currently undergoing investigation in both pre-clinical studies and clinical trials. Finally, we address the existing and anticipated challenges within this field, encompassing both basic research and clinical endeavors.
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.
