DeCure's autonomous Neuro AI scientist is researching a drug-repurposing hypothesis for Charlevoix-Saguenay spastic ataxia — 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 moduleCharlevoix-Saguenay spastic ataxia 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 charlevoix-saguenay spastic 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
sacsin molecular chaperone (SACS) — SACS 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 apo structuredrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 5V44 · 1.56 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
Five patients with ARSACS all showed linear hypointensity on T2 and T2 FLAIR-weighted images in the pons, adding to the known MRI findings of early superior vermis atrophy and progressive cerebellar hemisphere and cervical cord atrophy. A Turkish child with confirmed SACS gene mutation displayed typical clinical and neuroimaging features, consistent with the expanding geographic recognition of the disease beyond Quebec. A Uruguayan girl aged three years was found to carry two compound heterozygous variants in the sacsin gene, one novel, further demonstrating genomic heterogeneity. A case from South India presented with the classic triad of cerebellar ataxia, spasticity, and peripheral neuropathy, with typical imaging, adding to the very few reports from that region.
One case report described a six-week physiotherapy programme that included strengthening, balance, proprioception exercises, and virtual reality games, applied twice per week. The patient showed improvements in upper extremity coordination, lower extremity endurance, and balance tests after treatment. No other interventions or drug treatments appear in these abstracts.
No drug therapy is mentioned in any of these reports. No controlled trial, no survival data, and no response rate are available. What is missing is any pharmacological treatment tested in ARSACS, any prospective trial design, any patient stratification by genotype or disease stage, and any funding directed toward drug development for this condition.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
American Journal of Neuroradiology · 2007 · 91 citations · open access
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: A Report of MR Imaging in 5 Patients
AbstractWe present findings on MR imaging in 5 patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). In the literature, early atrophy of the superior vermis as well as progressive atrophy of the cerebellar hemispheres and cervical cord was described. We found linear hypointensity on T2 and T2 fluid-attenuated inversion recovery-weighted images in the pons in all of our 5 patients.
Journal of Pediatric Neurosciences · 2018 · 10 citations
Autosomal-recessive spastic ataxia of Charlevoix-Saguenay: A Turkish child
AbstractAutosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by mutations of the <i>SACS</i> gene, characterized by late-infantile-onset spastic ataxia and other neurological features. ARSACS has a high prevalence in northeastern Quebec, Canada. Recently, several ARSACS cases have been reported from outside Canada. We report typical clinical and neuroimaging features in a Turkish child, which confirmed genetic diagnosis of ARSACS.<br>
Journal of Medical Case Reports · 2025 · 0 citations · open access
Identification of a novel SACS gene mutation leading to spastic ataxia Charlevoix-Saguenay type: a case report
AbstractBACKGROUND: Spastic ataxia Charlevoix-Saguenay is a rare autosomal recessive neurodegenerative disorder characterized by a combination of spasticity, ataxia, and peripheral neuropathy. Although predominantly affecting individuals of French-Canadian descent, the geographic distribution of spastic ataxia Charlevoix-Saguenay-associated cases is expanding. CASE PRESENTATION: This study presents the case of a 3-year-old Uruguayan girl with suspected autosomal recessive spastic ataxia of Charlevoix-Saguenay, demonstrating the disease's presence in previously unreported locations. Exome sequencing analysis revealed two compound heterozygous variants in the sacsin molecular chaperone gene, one of which was novel. CONCLUSION: This report highlights the genomic heterogeneity of spastic ataxia Charlevoix-Saguenay and emphasizes the importance of investigating the genetic landscape of the disease in diverse populations. Understanding the underlying genetic alterations and their geographic distribution contributes to improved diagnosis, management, and potentially targeted therapies for individuals affected by spastic ataxia Charlevoix-Saguenay worldwide.
American Journal of Diagnostic Imaging · 2024 · 0 citations
An unusual case of childhood onset spastic ataxia from South India - Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
AbstractAutosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS) is an uncommon spastic-ataxic syndrome and a neurodegenerative disease that is characterised by the triad of cerebellar ataxia, spasticity, and peripheral neuropathy. Though initially reported from Quebec, Canada, this disorder has been reported from other regions of the world. There have been very few reports on this condition from India. We report a case from Southern India with typical clinical and imaging features.
İstanbul Gelişim Üniversitesi Sağlık Bilimleri Dergisi · 2023 · 0 citations · open access
The Effect of the Physiotherapy Program in Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay (ARSACS): A Case Report
AbstractAutosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS) is a rare neurodegenerative disease caused by a gene mutation. Cerebellar, pyramidal, and neuropathic symptoms have appeared in this disease. The patient participated in a two-week rehabilitation program for six weeks, which included strengthening, balance, proprioception exercises, and virtual reality games. Researchers performed an upper extremity coordination test, lower extremity endurance test, and balance test before- after treatment. Improvements in all measurements were observed and recorded.
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.
