Rare & Orphan Lab · DeCure for X

DeCure for Bilateral striopallidodentate calcinosis

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for bilateral striopallidodentate calcinosis — screening already-approved drugs against its 7-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.

Disease module7 genesLead labRare & Orphan
All cures
Rare & OrphanDOID:0060230$DeCureRare

The disease map

Disease moduleBilateral striopallidodentate calcinosis maps to a 7-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 bilateral striopallidodentate calcinosis 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

N-alpha-acetyltransferase 60, NatF catalytic subunit (NAA60)NAA60 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 acodrag to rotate · scroll to zoom

RCSB Protein Data Bank · entry 5HGZ · 1.383 Å · ligand ACETYL COENZYME *A (ACO). Experimental structure, not a prediction.

What the evidence adds up to

In a 1992 family study of autosomal dominant bilateral striopallidodentate calcinosis, intracerebral calcium deposits appeared before symptoms in the third decade of life, and progressive neurological deterioration occurred in the fifth decade in the proband. Cerebrospinal fluid homocarnosine was increased twofold in the dominant cases, while sporadic cases had no detectable homocarnosine and decreased histidine. Computerised tomography was superior to magnetic resonance imaging for diagnosis. Despite diffuse striatal calcification, striatal 6-[18F]fluoro-L-dopa uptake did not differ between patients and controls, suggesting persisting integrity of the nigrostriatal dopaminergic pathway. A 2012 case reported a five-year-old child with sporadic Fahr’s disease and extensive intracranial calcification but minimal clinical features, a rarity given the typical presentation in the fifth or sixth decade.

Psychiatric presentations have been described. A 2018 case from Nepal reported an 18-year-old man with Fahr’s disease who presented with manic symptoms; no underlying cause for the calcification was found. A 2017 case described a 40-year-old woman with idiopathic bilateral strio-pallido-dentate calcinosis, depressive symptoms, and a chronic left fronto-parietal subdural haematoma. A 2013 case reported a 48-year-old woman with bilateral striopallidodentate calcinosis secondary to postsurgical hypoparathyroidism, who presented with sudden loss of consciousness and general convulsions after total thyroidectomy.

No drug treatment is tested or proposed in any of these abstracts. The evidence consists entirely of case reports and one small family study, with no controlled trials, no biomarker validation beyond homocarnosine in one pedigree, and no data on whether any intervention alters the course of calcification or symptoms. What is missing is any prospective trial design, any funding for a natural history study or drug screening, and any stratification of patients by genetic cause (dominant, sporadic, or secondary to hypoparathyroidism) that might allow a targeted approach.

Evidence

Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.

Annals of Neurology · 1992 · 97 citations

Bilateral striopallidodentate calcinosis: Cerebrospinal fluid, imaging, and cerebrospinal fluid, imaging, and electrophysiological studies

AbstractWe report the genetic, clinical, electrophysiological, and imaging studies in a family with bilateral striopallidodentate calcinosis (Fahr's disease). The intracerebral calcium deposits occurred before onset of the symptoms in the third decade of life. Progressive neurological deterioration occurred in the fifth decade of life in the proband. Cerebrospinal fluid homocarnosine, a central nervous system-specific peptide, was increased twofold in patients with autosomal dominant bilateral stripallidodentate calcinosis; in sporadic cases, there was no detectable homocarnosine and a decreased level of histidine. With advancing age, the amount of calcification increases, but it has not been determined if a critical amount must be reached before symptoms occur. Computerized tomography is superior to magnetic resonance imaging for radiological diagnosis. Despite diffuse striatal calcification, striatal 6-[18F]fluoro-L-dopa uptake did not reveal any difference between patients and control subjects, from which we infer persisting integrity of the nigrostriatal dopaminergic pathway.

https://doi.org/10.1002/ana.410310406
Journal of Nepal Medical Association · 2018 · 15 citations · open access

Fahr’s Disease Presenting with Manic Symptoms

AbstractBilateral striopallidodentate calcinosis, commonly known as Fahr's disease, is a rare syndrome characterised by symmetrical calcification over the basal ganglion and dentate nucleus. No case of Fahr's disease with associated manic symptoms has been described in the literature to date. We report an unusual case of Fahr's Disease in a 18 year old unmarried male who presented to the emergency department of Universal College of Medical Sciences - Teaching Hospital, Nepal with symptoms of mania. Computed tomographic scan of the patient demonstrated extensive symmetrical calcification over the basal ganglia and dentate nuclei. No underlying cause for the bilateral calcification was found. This rare case of Fahr's disease, which has never been reported in Indian literature has been reported to highlight this unusual condition and its differentiation from the commoner Fahr's syndrome.

https://doi.org/10.31729/jnma.1600
BMJ Case Reports · 2013 · 4 citations · open access

Bilateral striopallidodentate calcinosis secondary to postsurgical hypoparathyroidism

AbstractBilateral striopallidodentate calcinosis (BSPDC) is characterised by calcifications of bilateral basal ganglia and dentate nuclei with or without thalamus, subcortical white matter and cerebellum involvement.1 A computed tomography (CT) is useful in diagnosing and determining the extent of BSPDC.1 Here we report a 48-year-old woman presenting to the emergency department with a sudden onset conscious loss followed by general convulsions. She had undergone a total thyroidectomy …

https://doi.org/10.1136/bcr-2013-200591
IOSR Journal of Nursing and health Science · 2017 · 2 citations · open access

Idiopathic Bilateral Strio-Pallido-Dentate Calcinosis (Fahr’s Disease) and Chronic Subdural Haematoma In A 40 Year Old Woman with Depression: A Case Report

AbstractIdiopathic bilateral strio-pallido-dentate calcinosis is a rare disorder characterized by symmetrical calcifications noticeable in parts of the brain. We present the case of idiopathic bilateral strio-pallido-dentate calcinosis (Fahr's disease) in a 40 year old woman with depressive symptoms. Computed Tomography scan of the brain showed extensive bilateral symmetrical calcifications in the basal ganglia and cerebellum as well as chronic left fronto-parietal subdural haematoma.

https://doi.org/10.9790/1959-0602033134
Journal of Nepal Paediatric Society · 2012 · 1 citations · open access

Fahr's Disease: An Uncommon Cause of Intracranial Calcification in Children

AbstractABSTRACT Idiopathic bilateral striopallidodentate calcification or Fahr’s disease is a degenerative disease normally found in the 5-6th decade of life. Here we report one of the youngest cases of sporadic Fahr’s disease presenting at five years of age with minimal clinical features but extensive intracranial calcification, a rarity. DOI: http://dx.doi.org/10.3126/jnps.v32i1.5335 J. Nepal Paediatr. Soc. Vol.32(1) 2012 76-78

https://doi.org/10.3126/jnps.v32i1.5335

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.