{"orpha":575553,"name":"CARASAL","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Cathepsin A-related arteriopathy-strokes-leukoencephalopathy"],"definition":"A rare genetic cerebral small vessel disease characterized by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-575553/","orphanet_url":"https://www.orpha.net/en/disease/detail/575553","names":{"fr":{"name":"CARASAL","synonyms":["Arthériopathie-infarctus cérébraux-leucoencéphalopathie liée à la cathepsine A"],"definition":"Maladie génétique rare des petites artères cérébrales caractérisée par une microangiopathie primaire apparaissant à l'âge adulte associée à une athérosclérose sévère affectant les artérioles et par une leucoencéphalopathie secondaire. Les patients peuvent présenter, entre autres, des migraines, des accidents ischémiques transitoires, des accidents vasculaires cérébraux avec paralysie faciale centrale, des troubles cognitifs et des troubles de la concentration, une démence, une dépression, des troubles du mouvement, des vertiges, une dysphagie, une dysarthrie, un syndrome sicca, des troubles du comportement en sommeil paradoxal (TCSP) et une hypertension résistante au traitement. L'IRM cérébrale met typiquement en évidence une leucoencéphalopathie dont la sévérité et l'étendue de lésions sont disproportionnées par rapport au tableau clinique."},"de":{"name":"CARASAL","synonyms":["Cathepsin A-assoziierte Arteriopathie-Schlaganfall-Leukoenzephalopathie"],"definition":"Eine seltene genetisch bedingte zerebrale Erkrankung der kleinen Gefäße, die durch eine im Erwachsenenalter auftretende primäre Mikroangiopathie mit schwerer Atherosklerose der Arteriolen und sekundärer Leukoenzephalopathie gekennzeichnet ist. Die Patienten können unter anderem Migräne, transitorische ischämische Attacken, Schlaganfall mit zentraler Gesichtslähmung, kognitive Störungen mit Konzentrationsstörungen, Demenz, Depression, Bewegungsstörungen, Schwindel, Dysphagie, Dysarthrie, Sicca-Syndrom, gestörten REM-Schlaf und therapieresistenten Bluthochdruck aufweisen. Die MRT des Gehirns zeigt typischerweise eine Leukoenzephalopathie, die im Vergleich zur klinischen Erkrankung unverhältnismäßig schwer und umfangreich ist."},"es":{"name":"CARASAL","synonyms":["Arteriopatía asociada a catepsina A-accidentes cerebrovasculares-leucoencefalopatía"],"definition":"Es una enfermedad cerebral de pequeños vasos, de origen genético y poco frecuente, caracterizada por microangiopatía primaria de inicio en el adulto con aterosclerosis grave de las arteriolas y leucoencefalopatía secundaria. Los pacientes pueden presentarse con migraña, ataques isquémicos transitorios, accidente cerebrovascular con parálisis facial central, disfunción cognitiva con afectación de la concentración, demencia, depresión, trastornos del movimiento, vértigo, disfagia, disartria, síndrome de Sicca, trastornos del sueño REM e hipertensión refractaria al tratamiento, entre otros. Por lo general, la RM cerebral muestra una leucoencefalopatía desproporcionadamente grave y extensa en comparación con la enfermedad clínica."},"it":{"name":"Arteriopatia correlata alla catepsina A-Ictus-leucoencefalopatia","synonyms":["Arteriopatia correlata alla catepsina A-ictus-leucoencefalopatia"],"definition":"Si tratta di una malattia genetica rara dei piccoli vasi cerebrali, caratterizzata da microangiopatia primitiva ad esordio nell'età adulta associata a grave aterosclerosi delle arteriole e a leucoencefalopatia secondaria. I pazienti presentano emicrania, attacchi ischemici transitori, ictus con paralisi facciale centrale, disfunzione cognitiva con difficoltà di concentrazione, demenza, depressione, disturbi del movimento, vertigini, disfagia, disartria, sindrome sicca, compromissione del sonno REM e ipertensione resistente alla terapia. Di solito la RMN del cervello evidenzia una leucoencefalopatia molto estesa e di gravità sproporzionata rispetto al quadro clinico."},"nl":{"name":"CARASAL","synonyms":["Cathepsine A-gerelateerde arteriopathie - cerebrovasculaire accidenten - leuko-encefalopathie"],"definition":"Een zeldzame, genetische aandoening van cerebrale kleine bloedvaten, gekarakteriseerd door in de volwassenheid optredende primaire microangiopathie met ernstige atherosclerose van arteriolen en secundaire leuko-encefalopathie. Patiënten presenteren zich mogelijk met onder meer migraine, transiënte ischemische aanvallen, beroerte met centrale faciale paralyse, cognitieve disfunctie met concentratiestoornis, dementie, depressie, bewegingsstoornis, vertigo, dysfagie, dysartrie, siccasyndroom, verstoorde REM-slaap, en therapieresistente hypertensie. MRI van de hersenen toont doorgaans een leuko-encefalopathie die disproportioneel ernstig en uitgebreid is in vergelijking met de klinische ziekte."},"pt":{"name":"Arteriopatia-AVC-leucoencefalopatia catepsina A-relacionada"},"pl":{"name":"Leukoencefalopatia z arteriopatią i udarem związana z katepsyną A","synonyms":["Cathepsin A-related arteriopathy-strokes-leukoencephalopathy"]},"cs":{"name":"Katepsin A-vázaná arteriopatie, mrtvice a leukoencefalopatie","synonyms":["Cathepsin A-related arteriopathy-strokes-leukoencephalopathy"]},"uk":{"name":"Артеріопатія-інсульти-лейкоенцефалопатія, повязані з катепсином А","synonyms":["CARASAL"],"definition":"A rare genetic cerebral small vessel disease characterized by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease."},"zh":{"name":"组织蛋白酶A相关动脉病-脑卒中-脑白质病","synonyms":["CARASAL"]},"tr":{"name":"Katepsin A-ilişkili arteriopati-inme-lökoensefalopati","synonyms":["CARASAL"]}},"xrefs":[{"source":"OMIM","code":"621394","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I67.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035551","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680354","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":477754,"name":"Genetic cerebral small vessel disease","classifications":[156,181]},{"orpha":98549,"name":"Rare cerebrovascular dementia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"CTSA","name":"cathepsin A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31177426[PMID]","hgnc":"9251","ensembl":"ENSG00000064601","omim":"613111","loci":["20q13.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[],"phenotypes":null}