{"orpha":240094,"name":"Progressive supranuclear palsy-pure akinesia with gait freezing syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["PSP-PAGF","PSP-pure akinesia with gait freezing"],"definition":"An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by progressive freezing of gait, speech and writing early in the disease course. Later, axial rigidity, and facial immobility can occur, and supranuclear downgaze paresis may emerge after a decade. Neuropathological characteristics include tau pathology and neuronal loss in specific brain areas, especially in the globus pallidus, subthalamic nucleus, and substantia nigra. The tau pathology is less widespread compared to the other PSP sub-types.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-240094/","orphanet_url":"https://www.orpha.net/en/disease/detail/240094","names":{"fr":{"name":"Syndrome de paralysie supranucléaire progressive-akinésie pure avec freezing de la marche","synonyms":["PSP-PAGF","PSP-akinésie pure avec freezing de la marche"],"definition":"Variante atypique de paralysie supranucléaire progressive (PSP), une maladie neurodégénérative rare à début tardif, caractérisée par un freezing progressif de la marche, de l'élocution et de l'écriture à un stade précoce de la maladie. Une rigidité axiale, une paralysie faciale et une parésie du regard vers le bas peuvent survenir après 10 ans d'évolution de la maladie. Les caractéristiques neuropathologiques incluent une tauopathie et une perte neuronale dans certaines régions du cerveau, notamment dans le noyau sous-thalamique et la substantia nigra. La tauopathie est moins sévère que dans d'autres types de PSP."},"de":{"name":"Progressive supranukleäre Blickparese-reine Akinesie mit Gang-Blockaden-Syndrom","synonyms":["PSP-Akinesie mit Gang-Blockaden","PSP-PAGF"],"definition":"Eine atypische Variante der progressiven supranukleären Blickparese (PSP), einer seltenen, spät einsetzenden neurodegenerativen Erkrankung, die zu Beginn der Erkrankung durch eine fortschreitende Lähmung des Gehens, Sprechens und Schreibens gekennzeichnet ist. Später können Achsensteifigkeit und Gesichtsstarre auftreten, und nach einem Jahrzehnt kann sich eine supranukleäre Lähmung der unteren Augenhälfte entwickeln. Zu den neuropathologischen Merkmalen gehören die Tau-Pathologie und der neuronale Verlust in bestimmten Hirnregionen, insbesondere im Globus pallidus, im Nucleus subthalamicus und in der Substantia nigra. Die Tau-Pathologie ist im Vergleich zu anderen PSP-Subtypen weniger häufig."},"es":{"name":"Síndrome de parálisis supranuclear progresiva-acinesia pura con congelación de la marcha","synonyms":["PSP-PAGF","PSP-acinesia pura con congelación de la marcha"],"definition":"Es una variante atípica de la parálisis supranuclear progresiva (PSP), una enfermedad neurodegenerativa poco frecuente de aparición tardía, caracterizada por una congelación progresiva de la marcha, el habla y la escritura en las primeras etapas del curso de la enfermedad. Posteriormente, puede ocurrir rigidez axial e inmovilidad facial, y puede surgir paresia supranuclear de la mirada hacia abajo después de una década. Las características neuropatológicas incluyen patología tau y pérdida neuronal en áreas específicas del cerebro, especialmente en el globo pálido, el núcleo subtalámico y la sustancia negra. La patología tau está menos extendida en comparación con los otros subtipos de PSP."},"it":{"name":"Sindrome paralisi sopranucleare progressiva-acinesia pura con blocco della marcia","synonyms":["PSP-PAGF","PSP-acinesia pura con freezing della deambulazione"],"definition":"Si tratta di una variante atipica della paralisi sopranucleare progressiva (PSP), una malattia neurodegenerativa rara ad esordio tardivo, caratterizzata dal blocco progressivo della marcia, del linguaggio e della scrittura, che esordiscono nelle prime fasi della malattia. Successivamente, i pazienti possono sviluppare rigidità assiale e immobilità facciale e, dopo un decennio, la paralisi sopranucleare dello sguardo verso il basso. Gli esami neuropatologici evidenziano la taupatia e la perdita neuronale in aree specifiche del cervello, in particolare nel globo pallido, nel nucleo subtalamico e nella substantia nigra. La taupatia è meno comune rispetto agli altri sottotipi della PSP."},"nl":{"name":"Progressieve supranucleaire paralyse - zuivere akinesie met gangblokkade-syndroom","synonyms":["PSP-PAGF","PSP-zuivere akinesie met gangblokkade","Progressieve supranucleaire verlamming - zuivere akinesie met gangblokkade-syndroom"],"definition":"Een atypische variant van progressieve supranucleaire paralyse (PSP), een zeldzame neurodegeneratieve aandoening met late aanvang, gekenmerkt door progressieve blokkade van gang, spraak en schrijven die al vroeg tijdens het verloop van de ziekte optreedt. Later kunnen axiale rigiditeit en faciale immobiliteit optreden, en na een decennium kan supranucleaire blikparese naar beneden optreden. Neuropathologische kenmerken zijn onder meer tau-pathologie en verlies van neuronen in specifieke gebieden van hersenen, vooral globus pallidus, nucleus subthalamicus en substantia nigra. De tau-pathologie is minder wijdverspreid in vergelijking met andere subtypes van PSP."},"pt":{"name":"Síndrome de paralisia supranuclear progressiva-acinésia pura com paralisia da marcha","definition":"Variante atípica da paralisia supranuclear progressiva (PSP), uma doença neurodegenerativa rara de início tardio, caracterizada pelo lentificação progressiva da marcha, fala e escrita no início da doença. Numa fase mais tardia, pode ocorrer rigidez axial e imobilidade facial, e a parésia supranuclear do olhar para baixo pode surgir após uma década. As características neuropatológicas incluem patologia tau e perda neuronal em áreas específicas do cérebro, especialmente no globo pálido, núcleo subtalâmico e substância nigra. A patologia tau tem uma distribuição menos ampla comparativamente aos outros subtipos de PSP."},"pl":{"name":"Postępujące porażenie nadjądrowe - czysta akinezja z zamrożeniem chodu","synonyms":["PSP-czysta akinezja z zamrożeniem chodu","PSP-PAGF"]},"cs":{"name":"Syndrom zahrnující progresivní supranukleární obrnu a čistým akinetickým freezingem chůze","synonyms":["PSP‑ PAGF","PSP s čistým akinetickým freezingem chůze"]},"uk":{"name":"Синдром прогресуючого надядерного паралічу-чистої акінезії із завмиранням ходи","synonyms":["PSP-PAGF","PSP - чиста акінезія із завмиранням ходи"],"definition":"An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by progressive freezing of gait, speech and writing early in the disease course. Later, axial rigidity, and facial immobility can occur, and supranuclear downgaze paresis may emerge after a decade. Neuropathological characteristics include tau pathology and neuronal loss in specific brain areas, especially in the globus pallidus, subthalamic nucleus, and substantia nigra. The tau pathology is less widespread compared to the other PSP sub-types."},"zh":{"name":"进行性核上性麻痹-完全运动不能伴冻结步态","synonyms":["PSP-完全运动不能伴冻结步态"],"definition":"PSP-纯运动障碍伴步态冻结（PSP-PAGF）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":"Yürüme donması sendromu ile seyreden ilerleyici supranükleer felç-saf akinezi","synonyms":["PSP-PAGF","Yürüyüş donması ile seyreden PSP-saf akinezi"]}},"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":"36931824"},{"source":"MONDO","code":"0016562","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679851","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":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-12-31","source":"28356654[PMID]_29051824[PMID]_27624121[PMID]","terms":[{"hpo":"HP:0002304","label":"Akinesia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0031825","label":"Freezing of gait","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031434","label":"Abnormal speech prosody","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005329","label":"Fixed facial expression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002141","label":"Gait imbalance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031908","label":"Micrographia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031814","label":"Palilalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002464","label":"Spastic dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031937","label":"Tachylalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001621","label":"Weak voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009053","label":"Distal lower limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002527","label":"Falls","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002505","label":"Loss of ambulation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007311","label":"Short stepped shuffling gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000643","label":"Blepharospasm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000571","label":"Hypometric saccades","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000657","label":"Oculomotor apraxia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Excluded (0%)","criteria":null}]}}