{"orpha":100070,"name":"Progressive non-fluent aphasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Agramatic variant of PPA","Agramatic variant of primary progressive aphasia","Non-fluent variant PPA"],"definition":"Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100070/","orphanet_url":"https://www.orpha.net/en/disease/detail/100070","names":{"fr":{"name":"Aphasie primaire progressive non fluente","synonyms":["APP agrammatique","APP non fluente","Aphasie primaire progressive agrammatique"],"definition":"L'aphasie primaire progressive non fluente (APP non fluente) est une forme de démence fronto-temporale (DFT) caractérisée par un agrammatisme, une élocution laborieuse, une alexie et une agraphie, souvent accompagnés par une apraxie de la parole. La compréhension du langage est relativement préservée."},"de":{"name":"Aphasie, nicht-flüssige progrediente","synonyms":["Agrammatische Variante der PPA","Agrammatische Variante der primären progredienten Aphasie"]},"es":{"name":"Afasia progresiva no fluente","synonyms":["APP variante no fluente","PPA variante no fluida","Variante agramatical de APP","Variante agramátical de la afasia progresiva primaria"],"definition":"Es una forma de demencia frontotemporal (DFT), caracterizada por agramatismo, habla laboriosa, alexia y agrafia, frecuentemente acompañada de apraxia del habla (ADH). La comprensión del lenguaje está relativamente conservada."},"it":{"name":"Afasia progressiva non fluente","synonyms":["PPA, variante agrammatica","PPA, variante non fluente","Variante agrammatica dell'afasia progressiva primitiva"]},"nl":{"name":"Progressieve niet-vloeiende afasie","synonyms":["Agrammatische variant van PPA","Agrammatische variant van primaire progressieve afasie","Niet-vloeiende variant van PPA"],"definition":"'Progressieve niet-vloeiende afasie (PNFA) is een vorm van frontotemporale dementie (FTD; zie deze term) die wordt gekarakteriseerd door agrammatisme, moeizame spraak, alexie en agrafie, vaak gepaard gaand met apraxie van de spraak (AOS). Het begrijpen van taal is relatief goed bewaard.'"},"pt":{"name":"Afasia, progressiva primária, tipo não-fluente"},"pl":{"name":"Postępująca niepłynna afazja","synonyms":["Agramatyczny wariant pierwotnej postępującej afazji","Agramatyczny wariant PPA","Niepłynny wariant PPA"]},"cs":{"name":"Progresivní nonfluentní afázie","synonyms":["Agramatická varianta PPA","Agramatická varianta primární progresivní afázie","Nonfluentní varianta PPA"]},"uk":{"name":"Прогресуюча невиражена афазія","synonyms":["Аграматичний варіант PPA","Аграматичний варіант первинної прогресуючої афазії","Непроточний варіант PPA"],"definition":"Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved."},"zh":{"name":"进行性非流利性失语","synonyms":["非语法型原发性进行性失语"],"definition":"进行性非流利性失语症(PNFA)是额颞叶痴呆(FTD，见该词条)的一种，以语法失写、言语困难、失读和失写为特征，常伴有言语失用(AOS)。语言理解相对保存下来。"},"tr":{"name":"İlerleyici akıcı olmayan afazi","synonyms":["Akıcı olmayan değişken PPA","PPA'nın agramatik varyantı","Primer ilerleyici afazinin agramatik varyantı"]}},"xrefs":[{"source":"OMIM","code":"172700","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"600274","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"607485","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G31.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"6D83","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2073597518"},{"source":"MONDO","code":"0015059","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D057178","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751706","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10793","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10029542","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":282,"name":"Frontotemporal dementia","classifications":[156,181]},{"orpha":306708,"name":"Frontotemporal neurodegeneration with movement disorder","classifications":[156,181]},{"orpha":95432,"name":"Primary progressive aphasia","classifications":[181]}],"children":[],"genes":[{"symbol":"PSEN1","name":"presenilin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15122701[PMID]","hgnc":"9508","ensembl":"ENSG00000080815","omim":"104311","loci":["14q24.2"]},{"symbol":"C9ORF72","name":"C9orf72-SMCR8 complex subunit","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":"23597030[PMID]","hgnc":"28337","ensembl":"ENSG00000147894","omim":"614260","loci":["9p21.2"]},{"symbol":"CHMP2B","name":"charged multivesicular body protein 2B","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23597030[PMID]","hgnc":"24537","ensembl":"ENSG00000083937","omim":"609512","loci":["3p11.2"]},{"symbol":"GRN","name":"granulin precursor","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23597030[PMID]","hgnc":"4601","ensembl":"ENSG00000030582","omim":"138945","loci":["17q21.31"]},{"symbol":"MAPT","name":"microtubule associated protein tau","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23597030[PMID]","hgnc":"6893","ensembl":"ENSG00000186868","omim":"157140","loci":["17q21.31"]},{"symbol":"TMEM106B","name":"transmembrane protein 106B","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"27543298[PMID]_21614538[PMID]","hgnc":"22407","ensembl":"ENSG00000106460","omim":"613413","loci":["7p21.3"]},{"symbol":"TREM2","name":"triggering receptor expressed on myeloid cells 2","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"25042114[PMID]","hgnc":"17761","ensembl":"ENSG00000095970","omim":"605086","loci":["6p21.1"]},{"symbol":"VCP","name":"valosin containing protein","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":"23597030[PMID]","hgnc":"12666","ensembl":"ENSG00000165280","omim":"601023","loci":["9p13.3"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.5,"area":"Europe","status":"Validated","source":"22608668[PMID]_European Medicines Agency 2010[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.7,"area":"Europe","status":"Not yet validated","source":"22608668[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-05-02","source":"11310619[PMID]_7114808[PMID]_22608668[PMID]","terms":[{"hpo":"HP:0002381","label":"Aphasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006892","label":"Frontotemporal cerebral atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002145","label":"Frontotemporal dementia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006977","label":"Grammar-specific speech disorder","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030391","label":"Spoken Word Recognition Deficit","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007112","label":"Temporal cortical atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000474","label":"Thickened nuchal skin fold","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012658","label":"Abnormal brain FDG positron emission tomography","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010523","label":"Alexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002186","label":"Apraxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011204","label":"EEG with continuous slow activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002366","label":"Abnormal lower motor neuron morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002446","label":"Astrocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010526","label":"Dysgraphia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002427","label":"Motor aphasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002300","label":"Mutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030223","label":"Perseveration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000751","label":"Personality changes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000711","label":"Restlessness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100256","label":"Senile plaques","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030692","label":"Brain neoplasm","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0100315","label":"Lewy bodies","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002185","label":"Neurofibrillary tangles","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Excluded (0%)","criteria":null}]}}