{"orpha":240103,"name":"Progressive supranuclear palsy-corticobasal syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["PSP-CBS","PSP-corticobasal syndrome"],"definition":"An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by a variable mixture of progressive asymmetric limb rigidity, apraxia, cortical sensory loss, alien limb, dystonia and bradykinesia that is unresponsive to levodopa. Postural instability and axial rigidity develop as the disease progresses. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the midfrontal and inferior parietal cortices.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-240103/","orphanet_url":"https://www.orpha.net/en/disease/detail/240103","names":{"fr":{"name":"Syndrome de paralysie supranucléaire progressive-syndrome corticobasal","synonyms":["PSP-CBS","PSP-syndrome cortico-basal","PSP-syndrome corticobasal"],"definition":"Variante atypique de paralysie supranucléaire progressive (PSP), une maladie neurodégénérative rare à début tardif, caractérisée par la prédominance d'un syndrome parkinsonien précoce (tremblements, bradykinésie des membres, rigidité axiale et des membres) plutôt que par des chutes et des troubles cognitifs. Les patients finissent par développer des signes cliniques caractéristiques d'une PSP classique. Les caractéristiques neuropathologiques incluent une tauopathie et une perte neuronale dans certaines régions du cerveau, notamment le noyau sous-thalamique et la substantia nigra. La tauopathie est moins sévère qu'en cas de PSP classique."},"de":{"name":"Progressive supranukleäre Blickparese - kortikobasales Syndrom","synonyms":["PSP-CBS","PSP-kortikobasales Syndrom"],"definition":"Eine atypische Variante der progressiven supranukleären Blickparese (PSP), einer seltenen neurodegenerativen Erkrankung mit spätem Beginn, die durch eine variable Mischung aus fortschreitender asymmetrischer Gliedersteifigkeit, Apraxie, kortikalem Sensibilitätsverlust, Alien-Limb-Phänomen, Dystonie und Bradykinesie gekennzeichnet ist und auf Levodopa nicht anspricht. Mit dem Fortschreiten der Krankheit entwickeln sich Haltungsinstabilität und Achsensteifigkeit. Zu den neuropathologischen Merkmalen gehören die Tau-Pathologie und der neuronale Verlust in bestimmten Hirnregionen, insbesondere im medialen frontalen Kortex und im inferioren parietalen Kortex."},"es":{"name":"Parálisis supranuclear progresiva-síndrome corticobasal","synonyms":["PSP-CBS","PSP-síndrome corticobasal"],"definition":"Es una variante atípica de la parálisis supranuclear progresiva (PSP), una enfermedad neurodegenerativa poco frecuente de inicio tardío, caracterizada por una combinación variable de rigidez asimétrica progresiva de las extremidades, apraxia, pérdida de la sensibilidad cortical, miembro ajeno, distonía y bradicinesia que no responde a levodopa. La inestabilidad postural y la rigidez axial se desarrollan a medida que la enfermedad progresa. Las características neuropatológicas incluyen la patología Tau y la pérdida neuronal en áreas cerebrales específicas, especialmente en la corteza parietal media y parietal inferior."},"it":{"name":"Paralisi sopranucleare progressiva - sindrome corticobasale","synonyms":["PSP-CBS","PSP-sindrome corticobasale"],"definition":"Si tratta di una variante atipica della paralisi sopranucleare progressiva (PSP), una malattia neurodegenerativa rara ad esordio tardivo, variabilmente caratterizzata da rigidità progressiva e asimmetrica degli arti, aprassia, perdita sensoriale corticale, fenomeno dell'arto alieno, distonia e bradicinesia non sensibile alla levodopa. Con il progredire della malattia, i pazienti sviluppano instabilità posturale e rigidità assiale. Gli esami neuropatologici evidenziano la taupatia e la perdita neuronale in aree specifiche del cervello, in particolare nella corteccia parietale medio-frontale e inferiore."},"nl":{"name":"Progressieve supranucleaire paralyse - corticobasaal syndroom","synonyms":["PSP - corticobasaal syndroom","PSP-CBS","Progressieve supranucleaire verlamming - corticobasaal syndroom"],"definition":"Een atypische variant van progressieve supranucleaire paralyse (PSP), een zeldzame neurodegeneratieve aandoening met late aanvang, gekenmerkt door een variabele combinatie van progressieve asymmetrische rigiditeit van ledematen, apraxie, corticaal sensorisch verlies, 'alien limb'-fenomeen, dystonie, en bradykinesie die niet reageert op levodopa. Posturale instabiliteit en axiale rigiditeit ontwikkelen naarmate de ziekte evolueert. Neuropathologische kenmerken zijn onder meer tau-pathologie en verlies van neuronen in specifieke gebieden van hersenen, vooral midfrontale en inferieure pariëtale hersenschors."},"pt":{"name":"Paralisia supranuclear progressiva-síndrome corticobasal","definition":"Variante atípica da paralisia supranuclear progressiva (PSP), uma doença neurodegenerativa rara de início tardio, caracterizada por uma combinação variável de rigidez assimétrica progressiva dos membros, apraxia, perda sensorial cortical, membro fantasma, distonia e bradicinésia que não responde ao tratamento com levodopa. A instabilidade postural e a rigidez axial desenvolvem-se à medida que a doença progride. As características neuropatológicas incluem patologia tau e perda neuronal em áreas específicas do cérebro, especialmente nos córtices frontal e parietal inferior."},"pl":{"name":"Postępujące porażenie nadjądrowe - zespół korowo-podstawny","synonyms":["PSP-CBS","PSP-zespół korowo-podstawny"]},"cs":{"name":"Progresivní supranukleární obrna s kortikobazálním syndromem","synonyms":["PSP-CBS","PSP s kortikobazálním syndromem"]},"uk":{"name":"Прогресуючий надядерний параліч-кортикобазальний синдром","synonyms":["PSP-CBS","PSP-кортикобазальний синдром"],"definition":"An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by a variable mixture of progressive asymmetric limb rigidity, apraxia, cortical sensory loss, alien limb, dystonia and bradykinesia that is unresponsive to levodopa. Postural instability and axial rigidity develop as the disease progresses. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the midfrontal and inferior parietal cortices."},"zh":{"name":"进行性核上性麻痹-皮质基底节综合征","synonyms":["PSP-皮质基底节综合征"],"definition":"PSP-皮质综合征（PSP-CBS）是进行性核上麻痹（PSP；见该词条）的一种非典型变异类型，是一种罕见的迟发性神经退行性疾病。"},"tr":{"name":"İlerleyici supranükleer palsi-kortikobazal sendrom","synonyms":["PSP-CBS","PSP-kortikobazal sendrom"]}},"xrefs":[{"source":"OMIM","code":"260540","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G23.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A00.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"548428437"},{"source":"MONDO","code":"0016563","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5548189","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":99750,"name":"Atypical progressive supranuclear palsy syndrome","classifications":[156,181,189]}],"children":[],"genes":[{"symbol":"MAPT","name":"microtubule associated protein tau","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":null,"hgnc":"6893","ensembl":"ENSG00000186868","omim":"157140","loci":["17q21.31"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.6,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-01-02","source":"30252354[PMID]_28467028[PMID]_15834857[PMID]_23432126[PMID]","terms":[{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002186","label":"Apraxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004373","label":"Focal dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030217","label":"Limb apraxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000514","label":"Slow saccadic eye movements","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000570","label":"Abnormal saccadic eye movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002374","label":"Diminished movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001188","label":"Hand clenching","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004305","label":"Involuntary movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045084","label":"Limb myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007158","label":"Progressive extrapyramidal muscular rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007885","label":"Slowed horizontal saccades","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000511","label":"Vertical supranuclear gaze palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006961","label":"Jerky head movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002548","label":"Parkinsonism with favorable response to dopaminergic medication","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000751","label":"Personality changes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009088","label":"Speech articulation difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000743","label":"Frontal release signs","frequency":"Excluded (0%)","criteria":null}]}}