{"orpha":54247,"name":"Posterior cortical atrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Benson syndrome","Biparietal Alzheimer disease","PCA"],"definition":"A rare neurologic disease characterized by impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities, relatively intact memory and language in the early stages, and atrophy of posterior brain regions.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-54247/","orphanet_url":"https://www.orpha.net/en/disease/detail/54247","names":{"fr":{"name":"Atrophie corticale postérieure","synonyms":["PCA","Syndrome de Benson"],"definition":"Maladie neurologique rare caractérisée par une altération des capacités de traitement visuel supérieur et d'autres fonctions corticales postérieures sans aucun signe d'anomalies oculaires, une mémoire et un langage relativement intacts dans les premiers stades, et une atrophie des régions cérébrales postérieures."},"de":{"name":"Atrophie, kortikale posteriore","synonyms":["Alzheimer-Krankheit, biparietale","Benson-Syndrom","PCA"],"definition":"Eine seltene neurologische Erkrankung, die durch eine Beeinträchtigung höherer visueller Verarbeitungsfähigkeiten und anderer posteriorer kortikaler Funktionen ohne Anzeichen von Augenanomalien, ein relativ intaktes Gedächtnis und eine intakte Sprache in den frühen Stadien sowie eine Atrophie der posterioren Hirnregionen gekennzeichnet ist."},"es":{"name":"Atrofia cortical posterior","synonyms":["Enfermedad de Alzheimer biparietal","PCA","Síndrome de Benson"],"definition":"Es una enfermedad neurológica poco frecuente caracterizada por afectación de las habilidades de procesamiento visual superiores y otras funciones corticales posteriores sin ninguna evidencia de anomalías oculares, con relativa conservación de la memoria y lenguaje en las primeras etapas, y atrofia de las regiones posteriores del cerebro."},"it":{"name":"Atrofia corticale posteriore","synonyms":["Malattia di Alzheimer biparietale","PCA","Sindrome di Benson"],"definition":"L'atrofia corticale posteriore (PCA) è una malattia neurologica rara caratterizzata dalla compromissione delle capacità dell'elaborazione visiva superiore e di altre funzioni corticali posteriori in assenza di evidenti anomalie oculari. La memoria e il linguaggio sono relativamente intatti nelle fasi iniziali della malattia. Si associa inoltre all'atrofia delle aree cerebrali posteriori."},"nl":{"name":"Posterieure corticale atrofie","synonyms":["Bipariëtale ziekte van Alzheimer","PCA","Syndroom van Benson"],"definition":"Een zeldzame neurologische aandoening, gekenmerkt door verstoring van centrale verwerking van visuele informatie en andere functies van posterieure cortex zonder enige aanwijzing van oculaire afwijkingen, relatief intact geheugen en taalvermogen in vroege stadia, en atrofie van posterieure hersengebieden."},"pt":{"name":"Atrofia cortical posterior","synonyms":["Síndrome Benson","PCA"]},"pl":{"name":"Tylna atrofia kory","synonyms":["Dwuciemieniowa choroba Alzheimera","PCA","Zespół Bensona"],"definition":"Rzadka choroba neurologiczna charakteryzująca się upośledzeniem wyższych zdolności przetwarzania wzrokowego i innych funkcji tylnej części kory mózgowej, bez nieprawidłowości oczu, z względnie zachowaną pamięcią i mową we wczesnych stadiach oraz atrofią tylnych obszarów mózgu."},"cs":{"name":"Posteriorní kortikální atrofie","synonyms":["Biparietální Alzheimerova nemoc","PCA","Bensonův syndrom"]},"uk":{"name":"Задня кортикальна атрофія","synonyms":["Синдром Бенсона","Біпарієтальна хвороба Альцгеймера","PCA"],"definition":"A rare neurologic disease characterized by impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities, relatively intact memory and language in the early stages, and atrophy of posterior brain regions."},"zh":{"name":"后皮质萎缩","synonyms":["二顶骨阿尔茨海默病"]},"tr":{"name":"Posterior kortikal atrofi","synonyms":["PCA","Benson sendromu","Biparietal Alzheimer hastalığı"]}},"xrefs":[{"source":"ICD-10","code":"G31.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A21.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"377572273"},{"source":"MONDO","code":"0018899","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4275079","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10078207","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":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-01-16","source":"3740301[PMID]","terms":[{"hpo":"HP:0010524","label":"Agnosia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010523","label":"Alexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100704","label":"Cerebral visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002442","label":"Dyscalculia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010526","label":"Dysgraphia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010525","label":"Finger agnosia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000657","label":"Oculomotor apraxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000551","label":"Color vision defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010522","label":"Dyslexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030217","label":"Limb apraxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002494","label":"Abnormal rapid eye movement sleep","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030216","label":"Inertia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002463","label":"Language impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011098","label":"Speech apraxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002367","label":"Visual hallucinations","frequency":"Occasional (29-5%)","criteria":null}]}}