{"orpha":97345,"name":"ABri amyloidosis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Familial dementia, British type"],"definition":"A rare, neurodegenerative disease characterized by progressive cognitive impairment, spastic tetraparesis, and cerebellar ataxia resulting from amyloid deposits in the brain. Spasticity with increased deep tendon reflexes and tone are early symptoms, muscular rigidity evolves later. Progressive mental deterioration usually starts with apathy and impaired memory with progression to complete disorientation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97345/","orphanet_url":"https://www.orpha.net/en/disease/detail/97345","names":{"fr":{"name":"Amylose ABri","synonyms":["Démence familiale type britannique"],"definition":"Maladie neurodégénérative rare caractérisée par des troubles cognitifs progressifs, une tétraparésie spastique et une ataxie cérébelleuse résultant de dépôts amyloïdes dans le cerveau. La spasticité accompagnée d'une augmentation des réflexes tendineux profonds et du tonus sont des symptômes précoces, évoluant plus tard vers une rigidité musculaire. La détérioration mentale progressive commence généralement par une apathie et des troubles de la mémoire, puis évolue vers une désorientation complète."},"de":{"name":"Abri-Amyloidose","synonyms":["Demenz, familiäre, Britischer Typ"],"definition":"Eine seltene neurodegenerative Krankheit, die durch fortschreitende kognitive Beeinträchtigung, spastische Tetraparese und zerebelläre Ataxie infolge von Amyloidablagerungen im Gehirn gekennzeichnet ist. Spastizität mit erhöhten tiefen Sehnenreflexen und erhöhtem Tonus sind frühe Symptome, Muskelsteifheit entwickelt sich später. Die fortschreitende mentale Verschlechterung beginnt in der Regel mit Apathie und Gedächtnisstörungen, die bis zur völligen Desorientierung fortschreiten."},"es":{"name":"Amiloidosis ABri","synonyms":["Demencia familiar tipo británica"],"definition":"Es una enfermedad neurodegenerativa poco frecuente caracterizada por un deterioro cognitivo progresivo, tetraparesia espástica y ataxia cerebelosa resultantes del depósito de amiloide en el cerebro. Los síntomas tempranos de la enfermedad son la espasticidad acompañada de un aumento de los reflejos osteotendinosos profundos y del tono, desarrollándose rigidez muscular posteriormente. El deterioro mental progresivo comienza, generalmente, con apatía y pérdida de memoria que evoluciona a desorientación completa."},"it":{"name":"Amiloidosi ABri","synonyms":["Demenza familiare, tipo britannico"],"definition":"L'amiloidosi ABri è una malattia neurodegenerativa rara, caratterizzata da deficit cognitivo progressivo, tetraparesi spastica e atassia cerebellare, causati dalla presenza di depositi di amiloide nel cervello. I segni d'esordio sono la spasticità associata ad un aumento dei riflessi tendinei profondi e del tono, mentre la rigidità muscolare si manifesta successivamente. Di solito, il deterioramento mentale progressivo esordisce con apatia e deficit mnemonici ed esita nel disorientamento completo."},"nl":{"name":"ABri-amyloïdose","synonyms":["Familiale dementie, Brits type"],"definition":"Een zeldzame, neurodegeneratieve ziekte, gekarakteriseerd door progressieve cognitieve stoornis, spastische tetraparese, en cerebellaire ataxie als gevolg van afzettingen van amyloïd in de hersenen. Spasticiteit met verhoogde diepe peesreflexen en tonus zijn vroege symptomen, terwijl musculaire rigiditeit later ontwikkelt. Progressieve mentale aftakeling begint meestal met apathie en geheugenstoornis met progressie naar volledige desoriëntatie."},"pt":{"name":"Demência familiar, tipo britânica"},"pl":{"name":"Amyloidoza ABri","synonyms":["Demencja rodzinna, typ brytyjski"]},"cs":{"name":"ABri amyloidóza","synonyms":["Britská familiární demence"]},"uk":{"name":"Амілоїдоз ABri","synonyms":["Сімейна деменція, британський тип"],"definition":"A rare, neurodegenerative disease characterized by progressive cognitive impairment, spastic tetraparesis, and cerebellar ataxia resulting from amyloid deposits in the brain. Spasticity with increased deep tendon reflexes and tone are early symptoms, muscular rigidity evolves later. Progressive mental deterioration usually starts with apathy and impaired memory with progression to complete disorientation."},"zh":{"name":"ABri淀粉样变","synonyms":["英国型家族性痴呆"],"definition":"一种罕见的神经退行性疾病，以进行性认知障碍、痉挛性四肢瘫痪和小脑共济失调为特征，由大脑中淀粉样物沉积引起。痉挛伴随深部肌腱反射和肌张力的增加是早期症状，逐渐会出现肌肉僵硬。进行性精神退化通常在开始时表现为冷漠和记忆力受损，并逐渐发展到完全丧失定向力。"},"tr":{"name":"ABri amiloidoz","synonyms":["Ailesel demans, İngiliz tipi"]}},"xrefs":[{"source":"OMIM","code":"176500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E85.4+","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"I68.0*","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5D00.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1037669378"},{"source":"MONDO","code":"0008306","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538208","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190835","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8344","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":439254,"name":"ITM2B amyloidosis","classifications":[156,181,196]}],"children":[],"genes":[{"symbol":"ITM2B","name":"integral membrane protein 2B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10391242[PMID]","hgnc":"6174","ensembl":"ENSG00000136156","omim":"603904","loci":["13q14.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[],"phenotypes":null}