{"orpha":412066,"name":"PRKAR1B-related neurodegenerative dementia with intermediate filaments","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic neurodegenerative disease characterized by dementia and mild parkinsonism with poor levodopa response. Presenting clinical manifestations are memory problems, short attention span, disorientation, language impairment, rigidity, bradykinesia, postural instability and behavioral changes, including apathy, anxiety and delusions.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-412066/","orphanet_url":"https://www.orpha.net/en/disease/detail/412066","names":{"fr":{"name":"Démence neurodégénérative avec filaments intermédiaires associée à PRKAR1B","definition":"Maladie neurodégénérative rare d'origine génétique caractérisée par une démence et un léger syndrome parkinsonien qui ne répond pas bien au traitement par lévodopa. Les manifestations cliniques initiales sont des troubles de la mémoire, une faible capacité d'attention, une désorientation, des troubles du langage, une rigidité, une bradykinésie, une instabilité posturale et des changements de comportement à type d'apathie, d'anxiété et d'hallucinations."},"de":{"name":"PRKAR1B-assoziierte neurodegenerative Demenz mit Intermediärfilamenten"},"es":{"name":"Demencia neurodegenerativa asociada a PRKAR1B con filamentos intermedios","definition":"La demencia neurodegenerativa asociada a PRKAR1B con filamentos intermedios, es una enfermedad neurodegenerativa, genética y poco frecuente, caracterizada por demencia y parkinsonismo leve con deficiente respuesta a la levodopa. Las principales manifestaciones clínicas son: problemas de memoria, escasa capacidad de atención, desorientación, trastorno del lenguaje, rigidez, bradicinesia, inestabilidad postural y cambios conductuales, que incluyen apatía, ansiedad y delirios."},"it":{"name":"Demenza neurodegenerativa PRKAR1B-correlata con filamenti intermedi","definition":"La demenza neurodegenerativa con filamenti intermedi correlata a PRKAR1B è una malattia neurodegenerativa genetica rara, caratterizzata da demenza e lieve parkinsonismo, scarsamente rispondente al trattamento con levodopa. I segni clinici d'esordio comprendono i deficit mnemonici e dell'attenzione, il disorientamento, i deficit del linguaggio, la rigidità, la bradicinesia, l'instabilità posturale e i cambiamenti del comportamento, compresa l'apatia, l'ansia e le delusioni."},"nl":{"name":"PRKAR1B-gerelateerde neurodegeneratieve dementie met intermediaire filamenten","definition":"PRKAR1B-gerelateerde neurodegeneratieve dementie met intermediaire filamenten is een zeldzame, genetische neurodegeneratieve ziekte die gekarakteriseerd wordt door dementie en mild parkinsonisme met weinig respons op levodopa. Presenterende klinische manifestaties zijn geheugenproblemen, korte aandachtsspanne, desoriëntatie, taalstoornis, rigiditeit, bradykinesie, posturale instabiliteit en gedragsveranderingen, waaronder apathie, angst en waanideeën."},"pt":{"name":"Demência neurodegenerativa com filamentos intermédios PRKAR1B-relacionada"},"pl":{"name":"Demencja neurodegeneracyjna związana z PRKAR1B z filamentami pośrednimi"},"cs":{"name":"PRKAR1B-vázaná neurodegenerativní demence s intermediárními filamenty"},"uk":{"name":"PRKAR1B-повязана нейродегенеративна деменція з помірно вираженими філаментами","definition":"A rare, genetic neurodegenerative disease characterized by dementia and mild parkinsonism with poor levodopa response. Presenting clinical manifestations are memory problems, short attention span, disorientation, language impairment, rigidity, bradykinesia, postural instability and behavioral changes, including apathy, anxiety and delusions."},"zh":{"name":"PRKAR1B相关神经退行性痴呆伴","definition":"PRKAR1B相关的神经退行性痴呆合并中间细丝是一种罕见的遗传性神经退行性疾病，其特征为痴呆和轻度帕金森病，左旋多巴反应不良。临床表现包括记忆力障碍，注意力不集中，迷失方向，语言障碍，僵硬，运动迟缓，姿势不稳和行为改变，包括冷漠，焦虑和妄想。"},"tr":{"name":"Orta filamentli PRKAR1B-ilişkili nörodejeneratif demans"}},"xrefs":[{"source":"ICD-10","code":"G31.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018475","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751505","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":276058,"name":"Genetic neurodegenerative disease with dementia","classifications":[156]},{"orpha":98534,"name":"Neurodegenerative disease with dementia","classifications":[181]}],"children":[],"genes":[{"symbol":"PRKAR1B","name":"protein kinase cAMP-dependent type I regulatory subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24722252[PMID]_25108559[PMID]","hgnc":"9390","ensembl":"ENSG00000188191","omim":"176911","loci":["7p22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"24722252[PMID]_25108559[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24722252[PMID]_25108559[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-19","source":"24722252[PMID]_25414037[PMID]_25108559[PMID]","terms":[{"hpo":"HP:0000726","label":"Dementia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0012757","label":"Abnormal neuron morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002145","label":"Frontotemporal dementia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000719","label":"Inappropriate behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002333","label":"Motor deterioration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000741","label":"Apathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002506","label":"Diffuse cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002527","label":"Falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010794","label":"Impaired visuospatial constructive cognition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030216","label":"Inertia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002463","label":"Language impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003552","label":"Muscle stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007311","label":"Short stepped shuffling gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002362","label":"Shuffling gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006892","label":"Frontotemporal cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007373","label":"Motor neuron atrophy","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002503","label":"Spinocerebellar tract degeneration","frequency":"Excluded (0%)","criteria":null}]}}