DeCure for Cerebellar atrophy, visual impairment, and psychomotor retardation;
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for cerebellar atrophy, visual impairment, and psychomotor retardation; — 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 moduleCerebellar atrophy, visual impairment, and psychomotor retardation; 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 cerebellar atrophy, visual impairment, and psychomotor retardation; 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
ER membrane protein complex subunit 1 (EMC1) — EMC1 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 pcwdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 7ADO · 3.39 Å · ligand 1,2-DIOLEOYL-SN-GLYCERO-3-PHOSPHOCHOLINE (PCW). Experimental structure, not a prediction.
What the evidence adds up to
Six patients from two families with spinocerebellar ataxia type 7 received riluzole 50 mg twice daily on a compassionate-use programme for a mean of 4.8 years (range 3.5 to 9). Two patients with advanced retinal damage showed no effect on visual function. Four patients had improvements in visual function followed by ophthalmologic stability lasting up to 5 years. Two patients had a less steep deterioration of ataxia during the first 2.5 years of treatment compared with their pre-treatment course. One patient showed an improvement in the Scale for the Assessment and Rating of Ataxia (SARA) score soon after starting therapy, then overall stability for 3.5 years, followed by worsening. One visually impaired patient without neurological impairment did not worsen until the last visit after 3.5 years. The remaining two patients showed an improvement in SARA scores soon after therapy and overall stability lasting 5 and 3 years respectively. No adverse events were registered.
A 65-year-old man with late cortical cerebellar atrophy was followed for 7 years. In 1985 he had down-beat nystagmus and gaze nystagmus; electronystagmography showed a very abnormal pattern, and his eye tracking test showed saccadic pursuit, no optokinetic nystagmus, and no visual suppression. In 1986 trunkal ataxia and speech disturbance appeared, and MRI showed atrophy of the vermis. The neuro-otological findings preceded the neurological signs, suggesting the oculomotor and equilibrium systems degenerated separately.
A case report describes a woman with early-onset cerebellar cognitive affective syndrome secondary to cerebellar atrophy, beginning at age 45. Over 14 years of follow-up she developed impairment of executive functions and visuospatial cognition, personality changes, and language deficits, with only mild motor impairment. The report describes the progression of signs and symptoms but offers no treatment data.
What is missing for cerebellar atrophy with visual impairment and psychomotor retardation is any controlled trial of riluzole or any other drug in this specific phenotype, any data on patient stratification by genetic cause or stage of retinal damage, and funding for a prospective study that measures both motor and cognitive endpoints over several years.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
The Cerebellum · 2024 · 2 citations · open access
Long-Term Follow-Up before and during Riluzole Treatment in Six Patients from Two Families with Spinocerebellar Ataxia Type 7
AbstractBACKGROUND: Currently no curative treatment exists for spinocerebellar ataxias (SCAs). Riluzole repurposing was proposed as a symptomatic treatment in different types of cerebellar ataxia. We report a long-term-follow up under riluzole treatment in SCA type 7. METHODS: Six patients received Riluzole 50 mg twice daily on a compassionate use program for a mean of 4.8 years (range 3.5-9). We measured ataxia onset and progression through the Scale for the Assessment and Rating of Ataxia (SARA), and collected extensive ophthalmological data before and after Riluzole treatment. Electrocardiogram and laboratory profile for drug safety were performed every six months. RESULTS: Riluzole treatment showed no effect on visual function in two patients with an advanced retinal damage. Improvements of visual function occurred in four patients followed by ophthalmologic stability up to 5 years after starting treatment. Two patients had a less steep deterioration of ataxia after treatment compared to pre-treatment, during the first 2,5 years of therapy. One showed soon after therapy an improvement of the SARA score, and then overall stability lasting 3,5 years, followed by ataxia worsening. One visually impaired patient without neurological impairment did not worse until the last visit after 3,5 years of follow-up. The remaining 2 patients showed an improvement of SARA scores soon after therapy, and an overall stability lasting respectively 5 and 3 years. No adverse event was registered during the observation period. DISCUSSION: This study suggests a possible beneficial action of Riluzole in SCA7 and provides a detailed description of the ophthalmologic profile of these patients.
Equilibrium Research · 1993 · 0 citations · open access
Neuro-otologocal Examination of A Patient with Late Cortical Cerebellar Atrophy.
AbstractA 65 year-old male patient had been treated for Late cortical cerebellar atrophy (LCCA) for 7 years. His neuro-otological findings and a review of the literature on LCCA are presented in this paper.In 1985, this patient was found to have down-beat nystagmus and gaze nystagmus. Electronystagmography (ENG) showed a very abnormal pattern. His eye tracking test (ETT) showed saccadic pursuit, no optokinetic nystagmus and no visual suppression. The neuro-otological findings suggested a cerebellar lesion, although he had no neurological abnormality.In 1986, trunkal ataxia and speech disturbance appeared. MRI showed atrophy of the vermis. These findings led us to the clinical diagnosis of LCCA.It was interesting that the neuro-otological findings preceded the neurological signs. Probably the oculomotor system and the equilibrium system of this patient with LCCA are degenerating separately.
Geriatrics Gerontology and Aging · 2022 · 0 citations · open access
Cerebellar cognitive affective syndrome due to cerebellar atrophy: case report
AbstractCerebellar atrophy is a rare and challenging disease with few descriptions in the medical literature. Motor impairment is mild, but behavioral and linguistic alterations stand out, in what is known as the cerebellar cognitive affective syndrome secondary to cerebellar atrophy. We report the case of an older woman with early-onset (age 45) signs and symptoms of this syndrome, including impairment of executive functions and visuospatial cognition, personality changes, and language deficits, who was followed at a geriatric medical center for 14 years. Neuropsychological, imaging, and behavioral aspects during this period are discussed in light of scientific evidence. This case report contributes to the scientific literature by describing the progression of the signs and symptoms of cerebellar atrophy over the years, which can help guide medical management and support advice for patients and their families. Keywords: cerebellar ataxia; cerebellar diseases; case reports.
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.
