{"orpha":280397,"name":"Familial Alzheimer-like prion disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Familial Alzheimer-like prion disease is an exceedingly rare form of prion disease characterized by the neuropathological features of Alzheimer disease including memory impairment and depression, related to abnormal prion protein (PrP) caused by a gene mutation in <i>PRNP</i>. Patients present with a prolonged, atypical course (absence of myoclonus or ataxia) unlike other forms of prion disease with severe neurofibrillary tangle pathology and high levels of cerebral amyloidosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280397/","orphanet_url":"https://www.orpha.net/en/disease/detail/280397","names":{"fr":{"name":"Maladie à prions familiale type Alzheimer","synonyms":["Maladie à prions familiale Alzheimer-like"],"definition":"Forme extrêmement rare de maladie à prion caractérisée par les signes neuropathologiques de la maladie d'Alzheimer, notamment des troubles de la mémoire et une dépression, liés à une protéine prion (PrP) anormale résultant d'une mutation du gène <i>PRNP</i>. Contrairement à d'autres formes de maladies à prion, les patients présentent une évolution atypique de longue durée (absence de myoclonie ou d'ataxie), et une atteinte sévère en lien avec des enchevêtrements neurofibrillaires et une importante amylose cérébrale."},"de":{"name":"Alzheimer-ähnliche familiäre Prionkrankheit"},"es":{"name":"Enfermedad priónica familiar similar a Alzheimer","synonyms":["Enfermedad priónica familiar Alzheimer-like"],"definition":"Es una forma extremadamente poco frecuente de enfermedad priónica caracterizada por los síntomas neuropatológicos de la enfermedad de Alzheimer, incluyendo deterioro de la memoria y depresión y está relacionada con defectos en la proteína priónica (PrP) causados por una mutación genética en <i>PRNP</i>. Los pacientes presentan un curso atípico prolongado (ausencia de mioclonos o ataxia) a diferencia de otras formas de enfermedad priónica, con grave patología de ovillos neurofibrilares y niveles elevados de amiloidosis cerebral."},"it":{"name":"Malattia familiare da prioni Alzheimer-simile","definition":"La malattia familiare da prioni simile all'Alzheimer è una forma molto rara di malattia da prioni (si veda questo termine), caratterizzata dai segni neuropatologici della malattia di Alzheimer, con deficit mnemonici e depressione, correlati alla presenza di una proteina prionica anomala (PrP), dovuta ad una mutazione nel gene PRNP. Il decorso della malattia è lungo e atipico (in assenza di mioclonie o atassia), a differenza delle altre malattie da prioni. I pazienti presentano una grave patologia da grovigli neurofibrillari e livelli elevati di amiloidosi nel cervello."},"nl":{"name":"Familiale Alzheimer-achtige prionziekte","definition":"Familiale Alzheimer-achtige prionziekte is een uiterst zeldzame vorm van prionziekte (zie deze term) die gekarakteriseerd wordt door de neuropathologische kenmerken van ziekte van Alzheimer waaronder geheugenstoornis en depressie, en die gerelateerd is aan abnormaal prionproteïne (PrP) als gevolg van een mutatie in het gen <i>PRNP</i>. Patiënten vertonen een langdurig, atypisch verloop (afwezigheid van myoclonus of ataxie) in tegenstelling tot andere vormen van prionziekte, met ernstige pathologie van neurofibrillaire knopen en hoog gehalte van cerebrale amyloïdose."},"pt":{"name":"Doença priónica familiar, Alzheimer-like"},"pl":{"name":"Rodzinna choroba prionowa podobna do choroby Alzheimera"},"cs":{"name":"Familiární prionové onemocnění podobné Alzheimerově nemoci"},"uk":{"name":"Сімейна пріонна хвороба, схожа на хворобу Альцгеймера","definition":"Familial Alzheimer-like prion disease is an exceedingly rare form of prion disease (see this term) characterized by the neuropathological features of Alzheimer disease including memory impairment and depression, related to abnormal prion protein (PrP) caused by a gene mutation in <i>PRNP</i>. Patients present with a prolonged, atypical course (absence of myoclonus or ataxia) unlike other forms of prion disease with severe neurofibrillary tangle pathology and high levels of cerebral amyloidosis."},"zh":{"name":"家族性阿尔茨海默样朊病毒病","definition":"家族性阿尔茨海默样朊病毒病是一种非常罕见的朊病毒病（见本术语），其特征是阿尔茨海默病的神经病理学特征，包括记忆障碍和抑郁，与PRNP基因突变引起的朊蛋白（PrP）异常有关。与其他形式的朊病毒病不同，患者表现为一个延长的、非典型的病程（无肌阵挛或共济失调），伴有严重的神经原纤维缠结的病理改变和高水平的脑淀粉样变。"},"tr":{"name":"Ailesel Alzheimer-benzeri prion hastalığı"}},"xrefs":[{"source":"ICD-10","code":"A81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8E02.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1297025427"},{"source":"MONDO","code":"0017233","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303482","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":280400,"name":"Inherited human prion disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PRNP","name":"prion protein (Kanno blood group)","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21416485[PMID]","hgnc":"9449","ensembl":"ENSG00000171867","omim":"176640","loci":["20p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"21416485[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21416485[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-02-22","source":"21416485[PMID]","terms":[{"hpo":"HP:0011458","label":"Abdominal symptom","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002549","label":"Deficit in phonologic short-term memory","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040264","label":"Jaw pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030223","label":"Perseveration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very frequent (99-80%)","criteria":null}]}}