DeCure for Spinocerebellar ataxia, autosomal recessive 23
DeCure's autonomous Neuro AI scientist is researching a drug-repurposing hypothesis for spinocerebellar ataxia, autosomal recessive 23 — 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 23 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 23 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
tyrosyl-DNA phosphodiesterase 2 (TDP2) — TDP2 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 1h-tetrazol-5-yldrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 5J3S · 3.4 Å · ligand 2,4-dioxo-10-[3-(1H-tetrazol-5-yl)phenyl]-2,3,4,10-tetrahydropyrimido[4,5-b]quinoline-8-carbonitrile (6FQ). Experimental structure, not a prediction.
What the evidence adds up to
Spinocerebellar ataxia autosomal recessive 23 is not mentioned in any of the three abstracts provided. The 2011 review notes that causative mutations for more than 30 spinocerebellar ataxias and 20 recessive ataxias had been identified by that date, and that effective therapies for ataxias were still lacking. The 2025 case report describes a 34-year-old patient with spinocerebellar ataxia type I, which is autosomal dominant, not recessive. The 2000 chapter estimates the prevalence of familial spinocerebellar degenerations at between 1.5 and 22.1 per 100,000 and focuses on adult-onset dominant forms.
No data on spinocerebellar ataxia autosomal recessive 23 appear in these abstracts. No concrete numbers for survival, response rates, or sample sizes for this specific disease are given. No drug is mentioned in connection with this condition.
What is missing is any abstract that actually studies spinocerebellar ataxia autosomal recessive 23. Without genetic or clinical data specific to that recessive form, no conclusions about its natural history, drug targets, or treatment prospects can be drawn from these sources.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
AbstractWe report a homozygous case of spinocerebellar ataxia type 17 with 48 glutamines. The age of the patient at disease onset was not lower than those of heterozygotes with the same CAG-repeat sizes, but the clinical manifestations were rapidly progressive dementia and chorea. Neuronal loss was relatively restricted and most prominent in the Purkinje cell layer and striatum; however, intranuclear neuronal polyglutamine accumulation was widespread, with a high frequency in the cerebral cortex and striatum.
Movement Disorders · 2011 · 94 citations · open access
Milestones in ataxia
AbstractThe past 25 years have seen enormous progress in the deciphering of the genetic and molecular basis of ataxias, resulting in improved understanding of their pathogenesis. The most significant milestones during this period were the cloning of the genes associated with the common spinocerebellar ataxias, ataxia telangiectasia, and Friedreich ataxia. To date, the causative mutations of more than 30 spinocerebellar ataxias and 20 recessive ataxias have been identified. In addition, there are numerous acquired ataxias with defined molecular causes, so that the entire number of distinct ataxia disorders exceeds 50 and possibly approaches 100. Despite this enormous heterogeneity, a few recurrent pathophysiological themes stand out. These include protein aggregation, failure of protein homeostasis, perturbations in ion channel function, defects in DNA repair, and mitochondrial dysfunction. The clinical phenotypes of the most common ataxia disorders have been firmly established, and their natural history is being studied in ongoing large observational trials. Effective therapies for ataxias are still lacking. However, novel drug targets are under investigation, and it is expected that there will be an increasing number of therapeutic trials in ataxia.
Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family
AbstractOBJECTIVE: To describe an unusual kindred with adult-onset ataxia and thalamic lesions detected by brain MRI. METHODS: The authors characterized clinical, laboratory, and pathologic features of the disease and sought linkage to previously recognized ataxia loci. RESULTS: Two sisters and a brother developed progressive ataxia, dysarthria, mild cognitive impairment, and sensorimotor neuropathy at age 30, combined with epilepsy in one sibling. MRI showed symmetric thalamic lesions, changes in brainstem gray matter, and white matter changes in the cerebellum. Autopsy in one of the patients revealed neuronal degeneration with a peculiar vacuolar change in thalamus, probably representing transsynaptic degeneration in response to deafferentation. Neuronal and secondary tract degeneration was observed in the spinal cord, cerebellum, and brainstem suggesting a spinocerebellar degeneration. The disorder appears to be transmitted as an autosomal recessive trait. Genetic and sequence analysis of the FRDA gene and comprehensive laboratory examinations excluded Friedreich's ataxia and other similar recessive diseases. CONCLUSION: Adult-onset recessive ataxia with bilateral thalamic lesions in this family may represent a distinct hereditary spinocerebellar ataxia.
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.
Rinsho Shinkeigaku · 2024 · 1 citations · open access
Recent clinical advances in hereditary spinocerebellar degeneration
AbstractSpinocerebellar degeneration (SCD) is a neurodegenerative disorder characterized by cerebellar ataxia and other multisystem manifestations, such as Parkinsonism and pyramidal tract symptoms. No effective treatment is available for SCD. Approximately one-third of the cases of SCD are inherited, and the remaining two-third are sporadic, including multiple system atrophy. This article provides an overview of hereditary SCD, its clinical features, recent treatment advances, biomarkers, role of genomic medicine, and future treatment prospects.
AbstractThe familial spinocerebellar degenerations are a heterogeneous group of disorders with onset in both childhood and adulthood. Their prevalence is estimated to be between 1.5 and 22.1 per 100,000. Although pathologic and clinical classification systems have been proposed in the past, all have had shortcomings. In the past several years, great strides in genetics have radically changed our thinking about the classification, and thus clinical presentation, of these disorders. In this chapter, we concentrate on the adult-onset familial ataxias.
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.
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.
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