{"orpha":240112,"name":"Progressive supranuclear palsy-progressive non-fluent aphasia syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["PSP-AOS","PSP-PNFA","Progressive supranuclear palsy-apraxia of speech syndrome"],"definition":"An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by an initial presentation of an isolated speech and language disorder (apraxia of speech, agrammatism, and phonemic errors) years before developing other motor features of PSP. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the temporal cortex and superior frontal gyrus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-240112/","orphanet_url":"https://www.orpha.net/en/disease/detail/240112","names":{"fr":{"name":"Syndrome de paralysie supranucléaire progressive-aphasie progressive non fluente","synonyms":["PSP-AOS","PSP-PNFA","Syndrome de paralysie supranucléaire progressive-apraxie verbale"],"definition":"Variante atypique de paralysie supranucléaire progressive (PSP), une maladie neurodégénérative rare à début tardif, caractérisée par l'apparition initiale d'un trouble isolé de l'élocution et du langage (apraxie de la parole, agrammatisme et paraphasie phonémique) des années avant l'apparition d'autres signes moteurs de PSP. Les caractéristiques neuropathologiques incluent une tauopathie et une perte neuronale dans certaines régions du cerveau, notamment le lobe temporal et le gyrus frontal supérieur."},"de":{"name":"Progressive supranukleäre Blickparese mit nicht-flüssiger progredienter Aphasie","synonyms":["PSP-AOS","PSP-PNFA","Progressive supranukleäre Blickparese mit Sprechapraxie"],"definition":"Eine atypische Variante der progressiven supranukleären Blickparese (PSP), einer seltenen neurodegenerativen Erkrankung mit spätem Beginn, die durch eine anfängliche isolierte Sprach- und Sprechstörung (Sprachapraxie, Agrammatismus und phonematische Fehler) Jahre vor der Entwicklung anderer motorischer Merkmale der PSP gekennzeichnet ist. Zu den neuropathologischen Merkmalen gehören Tau-Pathologie und neuronaler Verlust in bestimmten Hirnregionen, insbesondere im temporalen Kortex und im Gyrus frontalis superior."},"es":{"name":"Síndrome de parálisis supranuclear progresiva-afasia progresiva no fluida","synonyms":["PSP-AOS","PSP-PNFA","Síndrome de parálisis supranuclear progresiva-apraxia del habla"],"definition":"Es una variante atípica de la parálisis supranuclear progresiva (PSP), una enfermedad neurodegenerativa poco frecuente de inicio tardío, caracterizada por una presentación inicial de un trastorno aislado del habla y del lenguaje (apraxia del habla, agramatismo y errores fonémicos) años antes de desarrollar otros rasgos motores de la PSP. Las características neuropatológicas incluyen la patología Tau y la pérdida neuronal en áreas cerebrales específicas, especialmente en la corteza temporal y el giro frontal superior."},"it":{"name":"Sindrome paralisi sopranucleare progressiva-afasia non fluente progressiva","synonyms":["PSP-AOS","PSP-PNFA","Sindrome paralisi sopranucleare progressiva-aprassia del linguaggio"],"definition":"Si tratta di una variante atipica della paralisi sopranucleare progressiva (PSP), una malattia neurodegenerativa rara ad esordio tardivo, inizialmente caratterizzata da un'anomalia isolata del linguaggio (aprassia verbale, agrammatismo ed errori fonemici), che si manifesta alcuni anni prima dell'insorgenza dei sintomi caratteristici della PSP. Gli esami neuropatologici evidenziano la taupatia e la perdita neuronale in aree specifiche del cervello, in particolare nella corteccia temporale e nelle circonvoluzioni del lobo frontale superiore."},"nl":{"name":"Progressieve supranucleaire paralyse - progressieve niet-vloeiende afasie-syndroom","synonyms":["PSP-AOS","PSP-PNFA","Progressieve supranucleaire paralyse - spraakapraxie-syndroom","Progressieve supranucleaire verlamming - progressieve niet-vloeiende afasie-syndroom"],"definition":"Een atypische variant van progressieve supranucleaire paralyse (PSP), een zeldzame neurodegeneratieve aandoening met late aanvang, gekenmerkt door een initiële presentatie van een geïsoleerde spraak- en taalstoornis (spraakapraxie, agrammatisme, en fonemische fouten) die jaren voorafgaat aan ontwikkeling van andere motorische kenmerken van PSP. Neuropathologische kenmerken zijn onder meer tau-pathologie en verlies van neuronen in specifieke gebieden van hersenen, vooral temporale hersenschors en gyrus frontalis superior (bovenste voorhoofdswinding)."},"pt":{"name":"Síndrome de paralisia supranuclear progressiva-afasia não fluente progressiva","definition":"Variante atípica da paralisia supranuclear progressiva (PSP), uma doença neurodegenerativa rara de início tardio, caracterizada por uma apresentação clínica de distúrbio isolado de fala e linguagem (apraxia de fala, agramatismo e erros fonémicos) anos antes de desenvolver outras características motoras da PSP. As características neuropatológicas incluem patologia tau e perda neuronal em áreas específicas do cérebro, especialmente no córtex temporal e no giro frontal superior."},"pl":{"name":"Postępujące porażenie nadjądrowe - postępująca niepłynna afazja","synonyms":["Postępujące porażenie nadjądrowe - apraksja mowy","PSP-AOS","PSP-PNFA"]},"cs":{"name":"Syndrom zahrnující progresivní supranukleární obrnu a progresivní nonfluentní afázii","synonyms":["PSP-AOS","PSP-PNFA","Syndrom zahrnující progresivní supranukleární obrnu a apraxii řeči"]},"uk":{"name":"Синдром прогресуючого надядерного паралічу - прогресуючої невираженої афазії","synonyms":["Прогресуючий надядерний параліч-апраксія мовлення","PSP-AOS","PSP-PNFA"],"definition":"An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by an initial presentation of an isolated speech and language disorder (apraxia of speech, agrammatism, and phonemic errors) years before developing other motor features of PSP. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the temporal cortex and superior frontal gyrus."},"zh":{"name":"进行性核上性麻痹-非进行性流畅性失语综合征","synonyms":["进行性核上性麻痹-言语失用症综合征"],"definition":"PSP-渐进性非流利性失语（PSP-PNFA）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。与经典型PSP（Richardson综合征）不同，患者在表现出PSP的其他运动症状前的数年前可出现孤立性的失语问题。"},"tr":{"name":"İlerleyici supranükleer palsi-ilerleyici akıcı olmayan afazi sendromu","synonyms":["PSP-AOS","PSP-PNFA","İlerleyici supranükleer felç-konuşma apraksisi sendromu"]}},"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":"266842502"},{"source":"MONDO","code":"0016564","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679850","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":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-01-03","source":"28803444[PMID]_21614463[PMID]_18989114[PMID]_28653647[PMID]","terms":[{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030784","label":"Anomia","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:0006977","label":"Grammar-specific speech disorder","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011098","label":"Speech apraxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030391","label":"Spoken Word Recognition Deficit","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025268","label":"Stuttering","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031434","label":"Abnormal speech prosody","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000741","label":"Apathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009088","label":"Speech articulation difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002527","label":"Falls","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030217","label":"Limb apraxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007158","label":"Progressive extrapyramidal muscular rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000511","label":"Vertical supranuclear gaze palsy","frequency":"Occasional (29-5%)","criteria":null}]}}