{"orpha":240085,"name":"Progressive supranuclear palsy-predominant parkinsonism syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["PSP-p","PSP-parkinsonism"],"definition":"An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by prominent early parkinsonism (tremor, limb bradykinesia, axial and limb rigidity) rather than falls and cognitive change. Over the years, patients ultimately develop clinical features characteristic of classical PSP. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the subthalamic nucleus and substantia nigra. The tau pathology is less severe than in classical PSP.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-240085/","orphanet_url":"https://www.orpha.net/en/disease/detail/240085","names":{"fr":{"name":"Syndrome de paralysie supranucléaire progressive-parkinsonisme prédominant","synonyms":["PSP-p","PSP-parkinsonisme"],"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-predominanter Parkinsonismus-Syndrom","synonyms":["PSP-P","PSP-Parkinsonismus"],"definition":"Eine atypische Variante der progressiven supranukleären Blickparese (PSP), einer seltenen neurodegenerativen Erkrankung mit spätem Beginn, die durch einen ausgeprägten Parkinsonismus im Frühstadium (Tremor, Bradykinesie der Gliedmaßen, Steifigkeit der Achsen und Gliedmaßen) ohne Stürze und kognitive Beeinträchtigungen gekennzeichnet ist. Im Laufe der Jahre entwickeln die Patienten schließlich die klinischen Merkmale der klassischen PSP. Zu den neuropathologischen Merkmalen gehören die Tau-Pathologie und der Verlust von Nervenzellen in bestimmten Hirnregionen, insbesondere im Nucleus subthalamicus und in der Substantia nigra. Die Tau-Pathologie ist weniger schwerwiegend als bei der klassischen PSP."},"es":{"name":"Síndrome de parálisis supranuclear progresiva-parkinsonismo predominante","synonyms":["PSP-p","PSP-parkinsonismo"],"definition":"Es una variante atípica de la parálisis supranuclear progresiva (PSP), una enfermedad neurodegenerativa poco frecuente de inicio tardío, caracterizada por parkinsonismo temprano prominente (temblor, bradicinesia de las extremidades, rigidez axial y de las extremidades) en vez de caídas y cambios cognitivos. Con el paso de los años, los pacientes desarrollan rasgos clínicos típicos de la PSP clásica. Las características neuropatológicas incluyen patología tau y pérdida neuronal en áreas específicas del cerebro, especialmente en el núcleo subtalámico y la sustancia negra. La patología tau es menos grave que en la PSP clásica."},"it":{"name":"Sindrome paralisi sopranucleare progressiva-parkinsonismo","synonyms":["PSP-p","PSP-parkinsonismo"],"definition":"Si tratta di una variante atipica della paralisi sopranucleare progressiva (PSP), una malattia neurodegenerativa rara ad esordio tardivo, caratterizzata da parkinsonismo ad esordio precoce (tremore, bradicinesia degli arti, rigidità assiale e degli arti), piuttosto che da cadute e alterazioni cognitive. Nel corso degli anni, i pazienti sviluppano i segni clinici tipici della PSP classica. Gli esami neuropatologici evidenziano la taupatia e la perdita neuronale in aree specifiche del cervello, in particolare nel nucleo subtalamico e nella substantia nigra. La taupatia è meno grave rispetto a quella associata alla PSP classica."},"nl":{"name":"Progressieve supranucleaire paralyse - predominant parkinsonisme-syndroom","synonyms":["PSP-p","PSP-parkinsonisme","Progressieve supranucleaire verlamming - predominant parkinsonisme-syndroom"],"definition":"Een atypische variant van progressieve supranucleaire paralyse (PSP), een zeldzame neurodegeneratieve aandoening met late aanvang, gekenmerkt door prominent, vroeg optredend parkinsonisme (tremor, bradykinesie van ledematen, axiale rigiditeit, en rigiditeit van ledematen) in plaats van vallen en cognitieve veranderingen. Na verloop van jaren ontwikkelen patiënten tenslotte klinische kenmerken die typerend zijn voor klassieke PSP. Neuropathologische kenmerken zijn onder meer tau-pathologie en verlies van neuronen in specifieke gebieden van hersenen, vooral nucleus subthalamicus en substantia nigra. De tau-pathologie is minder ernstig dan bij klassieke PSP."},"pt":{"name":"Síndrome de paralisia supranuclear progressiva-parkinsonismo predominante","synonyms":["PSP-p","PSP-parkinsonismo"],"definition":"Variante atípica da paralisia supranuclear progressiva (PSP), uma doença neurodegenerativa rara de início tardio caracterizada por parkinsonismo precoce proeminente (tremor, bradicinésia e rigidez dos membros, rigidez axial) em deterimento de quedas e alterações cognitivas. Ao longo dos anos, os doentes desenvolvem características clínicas da PSP clássica. As características neuropatológicas incluem patologia tau e perda neuronal em áreas específicas do cérebro, especialmente no núcleo subtalâmico e na substância nigra. A patologia tau tem menor gravidade que na PSP clássica."},"pl":{"name":"Postępujące porażenie nadjądrowe - parkinsonizm","synonyms":["PSP-p","PSP-parkinsonizm","Zespół postępującego porażenia nadjądrowego z przewagą parkinsonizmu"]},"cs":{"name":"Syndrom zahrnující progresivní supranukleární obrnu a parkinsonismus","synonyms":["PSP-p","PSP s parkinsonismem"]},"uk":{"name":"Синдром прогресуючого надядерного паралічу з переважанням паркінсонізму","synonyms":["PSP-p","PSP-паркінсонізм"],"definition":"An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by prominent early parkinsonism (tremor, limb bradykinesia, axial and limb rigidity) rather than falls and cognitive change. Over the years, patients ultimately develop clinical features characteristic of classical PSP. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the subthalamic nucleus and substantia nigra. The tau pathology is less severe than in classical PSP."},"zh":{"name":"进行性核上性麻痹-帕金森综合征","synonyms":["进行性核上性麻痹-帕金森综合征"],"definition":"PSP-帕金森综合征（PSP-P）是进行性核上性麻痹（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-parkinsonizm sendromu","synonyms":["PSP-p","PSP-parkinsonizm"]}},"xrefs":[{"source":"OMIM","code":"260540","qualifier":"E","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":"899721614"},{"source":"MONDO","code":"0009839","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5548370","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]},{"orpha":306666,"name":"Rare parkinsonian syndrome due to neurodegenerative disease","classifications":[181]}],"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":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-12-27","source":"29037499[PMID]_12654952[PMID]_10388790[PMID]_16157753[PMID]_14595660[PMID]_12654952[PMID]_16278856[PMID]_16157754[PMID]_19458322[PMID]_11708994[PMID]","terms":[{"hpo":"HP:0000570","label":"Abnormal saccadic eye movements","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002548","label":"Parkinsonism with favorable response to dopaminergic medication","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000511","label":"Vertical supranuclear gaze palsy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006921","label":"Axial muscle stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002527","label":"Falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000741","label":"Apathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010794","label":"Impaired visuospatial constructive cognition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002068","label":"Neuromuscular dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Excluded (0%)","criteria":null}]}}