{"schema":"https://ver.cy/schemas/card/1.0.0","id":"vr.tr.leukodystrophy","code":"thing-q1821559","url":"https://ver.cy/models/thing/q1821559/","name":"leukodystrophy","alternateNames":["CADASIL","CADASIL 1","cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2","RNASET2-deficient cystic leukoencephalopathy","adult-onset autosomal dominant demyelinating leukodystrophy","hypomyelinating leukodystrophy","megalencephalic leukoencephalopathy with subcortical cysts","leukoencephalopathy with vanishing white matter","RAVINE syndrome","Dermatoleukodystrophy","Leigh syndrome with leukodystrophy","Pelizaeus-Merzbacher-like disease"],"kind":"thing","status":"published","version":"0.2.0-wave.2","language":"en","classifiers":{"family":"Thing Registry","category":"Cross-cutting context","entryKind":"thing","plane":"XCT","domain":["XCT.STA"],"industry":[],"navPath":"","tags":[],"facets":{}},"whatItIs":"A group of rare, mostly genetic disorders affecting the white matter of the brain and spinal cord through abnormal development, maintenance or loss of myelin, including hypomyelinating leukodystrophies, demyelinating forms such as metachromatic leukodystrophy and adrenoleukodystrophy, adult-onset forms, and related vascular white matter conditions such as CADASIL; leukodystrophies cause progressive neurological decline, are diagnosed by imaging and genetic testing, and are managed by specialist teams with some forms having specific treatments.","purpose":"Let an agent explain leukodystrophies and their types and genetic basis in general terms, relay diagnosis, management and support information from health bodies and patient organisations, and route personal medical questions to clinicians.","scope":{"in":[],"out":[],"boundaries":[]},"distinguishingFeatures":["White matter","Mostly genetic","Progressive","Rare"],"structure":{"bundles":[{"id":"understand","name":"Understand","description":"What leukodystrophies are.","layers":[{"id":"concept","name":"Concept","description":"Concept and types.","findings":[{"id":"concept-finding","name":"Concept","description":"Concept.","questions":[{"text":"What are leukodystrophies, and how do hypomyelinating, demyelinating, adult-onset and vascular forms differ?","kind":"definition"},{"text":"Is the user asking about their own or a family member condition, which needs a clinician?","kind":"boundary"}]}]},{"id":"genetics","name":"Genetics","description":"Genetics.","findings":[{"id":"genetics-finding","name":"Genetics","description":"Genetics.","questions":[{"text":"What genes and inheritance patterns underlie leukodystrophies?","kind":"provenance"},{"text":"Which entry fits a specific disorder?","kind":"action"}]}]}]},{"id":"manage","name":"Manage","description":"Diagnosis and management.","layers":[{"id":"diagnosis","name":"Diagnosis","description":"Diagnosis.","findings":[{"id":"diagnosis-finding","name":"Diagnosis","description":"Diagnosis.","questions":[{"text":"How are leukodystrophies diagnosed through imaging and genetic testing, in general terms?","kind":"provenance"},{"text":"Which entry fits brain imaging?","kind":"action"}]}]},{"id":"treatment","name":"Treatment","description":"Treatment and care.","findings":[{"id":"treatment-finding","name":"Treatment","description":"Treatment.","questions":[{"text":"What treatments exist for specific forms, and what supportive care do guidelines describe?","kind":"provenance"},{"text":"Is the presentation free of unproven treatment claims?","kind":"boundary"}]}]}]},{"id":"family","name":"Family","description":"Families and screening.","layers":[{"id":"screening","name":"Screening","description":"Newborn screening.","findings":[{"id":"screening-finding","name":"Screening","description":"Screening.","questions":[{"text":"Which leukodystrophies are included in newborn screening, and why does early detection matter?","kind":"provenance"},{"text":"Which entry fits newborn screening?","kind":"action"}]}]},{"id":"support","name":"Support","description":"Support.","findings":[{"id":"support-finding","name":"Support","description":"Support.","questions":[{"text":"Which patient organisations and resources support families, according to health bodies?","kind":"provenance"},{"text":"Which entry fits rare disease support?","kind":"action"}]}]}]},{"id":"learn","name":"Learn","description":"Research and teaching.","layers":[{"id":"research","name":"Research","description":"Research.","findings":[{"id":"research-finding","name":"Research","description":"Research.","questions":[{"text":"What research on gene therapy and other treatments is under way, with findings attributed?","kind":"provenance"},{"text":"Which references are standard?","kind":"provenance"}]}]},{"id":"teach","name":"Teach","description":"Teaching.","findings":[{"id":"teach-finding","name":"Teach","description":"Teaching.","questions":[{"text":"How can leukodystrophies be taught in neurology and genetics?","kind":"action"},{"text":"Which misconceptions arise?","kind":"provenance"}]}]}]}]},"agentConduct":{"may":["Explain leukodystrophies and their main types in general terms.","Point families to specialist centres and patient organisations."],"mustNot":["Diagnose a leukodystrophy or interpret scans in place of a specialist.","Promote unproven therapies as cures.","Give prognosis to a family without a clinician.","Share a child's diagnosis or genetic results without consent."],"requiresHuman":["Communicating a diagnosis or prognosis to a family.","Decisions about transplants or gene therapy."]},"ethics":{"considerations":["Leukodystrophies are often fatal in childhood; families face devastating news.","Newborn screening and treatments raise hard choices about timing and access."],"affectedParties":["Affected children and adults","Families and carers","Siblings at risk"]},"owners":{"steward":"The patient; specialist clinicians and genetic services answer for care.","roles":[],"masterSystems":["Rare disease patient registries"]},"relations":[{"target":"Q1620193","type":"parent","note":"registry parent class"},{"target":"cerebral degeneration","type":"related","note":"category"},{"target":"multiple sclerosis","type":"related","note":"an acquired demyelinating disease for contrast"},{"target":"mitochondrial disease","type":"related","note":"another group of rare genetic disorders"},{"target":"neurology","type":"related","note":"the specialty managing leukodystrophies"}],"interaction":{"identity":{"applicability":"required","items":["Vercy registry: vr.tr.leukodystrophy","Wikidata: Q1821559 (https://www.wikidata.org/wiki/Q1821559)"]},"properties":{"applicability":"not-applicable","items":[]},"recognition":{"applicability":"optional","items":["Disorders of brain white matter and myelin","Hypomyelinating, demyelinating, adult-onset, vascular","Multiple sclerosis is an acquired demyelinating disease, not a leukodystrophy","Not visible; seen on brain imaging."]},"capabilities":{"applicability":"required","items":["explain types and basis","relay diagnosis and management information","support families with resources","route personal questions"]},"hazards":{"applicability":"required","items":["Agents giving personal diagnosis or treatment advice","Confusing with multiple sclerosis","Unproven treatments"]},"interfaces":{"applicability":"required","items":["Clinical guidelines for leukodystrophies","Newborn screening for some forms","Genetic testing and counselling standards"]},"context":{"applicability":"required","items":["Genetic white matter disorders.","hypomyelinating leukodystrophies","lysosomal and peroxisomal leukodystrophies","adult-onset leukodystrophies","vascular leukoencephalopathies such as CADASIL","other rare white matter disorders"]}},"sources":[{"title":"Wikidata item Q1821559: leukodystrophy","url":"https://www.wikidata.org/wiki/Q1821559","note":"identity and sense of the item"},{"title":"Wikipedia: Leukodystrophy","url":"https://en.wikipedia.org/wiki/Leukodystrophy","note":"general description of the item"}],"openQuestions":["Should specific leukodystrophies be separate entries?","How should patient organisations be linked?","How should research registries be linked?"],"resources":{"spec":"/models/things/publications/thing-q1821559/spec.json"},"provenance":{"origin":"thing registry research (pass 2)","builtFrom":["models/things/publications/thing-q1821559/spec.json"],"providers":["Claude"],"researchStatus":"unreviewed","generatedAt":"2026-09-12T05:22:10Z","builder":"tools/build_cards.py@1.0.0"},"completeness":{"sections":{"classifiers":"filled","whatItIs":"filled","purpose":"filled","distinguishingFeatures":"filled","structure":"filled","agentConduct":"filled","ethics":"filled","owners":"filled","relations":"filled","interaction.identity":"filled","interaction.properties":"not-applicable","interaction.recognition":"filled","interaction.capabilities":"filled","interaction.hazards":"filled","interaction.interfaces":"filled","interaction.context":"filled","sources":"filled"},"notes":{"_gate":"Published through the thing publication gate 1.0 on 2026-10-06T19:51:55+00:00: completeness 1.00; sense: Wikidata description; 2 live sources; review by codex: pass","interaction.properties":"Plane XCT: no invented physical properties."},"score":1.0}}