ORPHA:100070
Progressive non-fluent aphasia
Synonyms: Agramatic variant of PPA · Agramatic variant of primary progressive aphasia · Non-fluent variant PPA
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Adult
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive non-fluent aphasia | Agramatic variant of PPA · Agramatic variant of primary progressive aphasia · Non-fluent variant PPA |
| fr | Aphasie primaire progressive non fluente | APP agrammatique · APP non fluente · Aphasie primaire progressive agrammatique |
| de | Aphasie, nicht-flüssige progrediente | Agrammatische Variante der PPA · Agrammatische Variante der primären progredienten Aphasie |
| es | Afasia progresiva no fluente | APP variante no fluente · PPA variante no fluida · Variante agramatical de APP · Variante agramátical de la afasia progresiva primaria |
| it | Afasia progressiva non fluente | PPA, variante agrammatica · PPA, variante non fluente · Variante agrammatica dell'afasia progressiva primitiva |
| nl | Progressieve niet-vloeiende afasie | Agrammatische variant van PPA · Agrammatische variant van primaire progressieve afasie · Niet-vloeiende variant van PPA |
| pt | Afasia, progressiva primária, tipo não-fluente | |
| pl | Postępująca niepłynna afazja | Agramatyczny wariant pierwotnej postępującej afazji · Agramatyczny wariant PPA · Niepłynny wariant PPA |
| cs | Progresivní nonfluentní afázie | Agramatická varianta PPA · Agramatická varianta primární progresivní afázie · Nonfluentní varianta PPA |
| uk | Прогресуюча невиражена афазія | Аграматичний варіант PPA · Аграматичний варіант первинної прогресуючої афазії · Непроточний варіант PPA |
| zh | 进行性非流利性失语 | 非语法型原发性进行性失语 |
| tr | İlerleyici akıcı olmayan afazi | Akıcı olmayan değişken PPA · PPA'nın agramatik varyantı · Primer ilerleyici afazinin agramatik varyantı |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 172700 | NTBT | validated | |
| OMIM | 600274 | NTBT | validated | |
| OMIM | 607485 | NTBT | validated | |
| ICD-10 | G31.0 | NTBT | attributed | validated |
| ICD-11 | 6D83 | NTBT | index | validated |
| MONDO | 0015059 | E | validated | |
| MeSH | D057178 | E | validated | |
| UMLS | C0751706 | E | validated | |
| GARD | 10793 | E | validated | |
| MedDRA | 10029542 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:282Frontotemporal dementia
rare genetic diseases; rare neurological diseases - ORPHA:306708Frontotemporal neurodegeneration with movement disorder
rare genetic diseases; rare neurological diseases - ORPHA:95432Primary progressive aphasia
rare neurological diseases
No children.
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Genes
8 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PSEN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9508 | ENSG00000080815 | 104311 | 14q24.2 | presenilin 1 | 15122701[PMID] |
| C9ORF72 | Major susceptibility factor in | Not yet assessed | HGNC:28337 | ENSG00000147894 | 614260 | 9p21.2 | C9orf72-SMCR8 complex subunit | 23597030[PMID] |
| CHMP2B | Major susceptibility factor in | Assessed | HGNC:24537 | ENSG00000083937 | 609512 | 3p11.2 | charged multivesicular body protein 2B | 23597030[PMID] |
| GRN | Major susceptibility factor in | Assessed | HGNC:4601 | ENSG00000030582 | 138945 | 17q21.31 | granulin precursor | 23597030[PMID] |
| MAPT | Major susceptibility factor in | Assessed | HGNC:6893 | ENSG00000186868 | 157140 | 17q21.31 | microtubule associated protein tau | 23597030[PMID] |
| TMEM106B | Major susceptibility factor in | Assessed | HGNC:22407 | ENSG00000106460 | 613413 | 7p21.3 | transmembrane protein 106B | 27543298[PMID]_21614538[PMID] |
| TREM2 | Major susceptibility factor in | Assessed | HGNC:17761 | ENSG00000095970 | 605086 | 6p21.1 | triggering receptor expressed on myeloid cells 2 | 25042114[PMID] |
| VCP | Major susceptibility factor in | Not yet assessed | HGNC:12666 | ENSG00000165280 | 601023 | 9p13.3 | valosin containing protein | 23597030[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2.5 / 100 000 | Europe | Value and class | Validated | 22608668[PMID]_European Medicines Agency 2010[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.7 / 100 000 | Europe | Value and class | Not yet validated | 22608668[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
32 annotations · validated 2016-05-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002381 | Aphasia | |
| HP:0006892 | Frontotemporal cerebral atrophy | |
| HP:0002145 | Frontotemporal dementia | |
| HP:0006977 | Grammar-specific speech disorder | |
| HP:0002354 | Memory impairment | |
| HP:0001268 | Mental deterioration | |
| HP:0030391 | Spoken Word Recognition Deficit | |
| HP:0007112 | Temporal cortical atrophy | |
| HP:0000474 | Thickened nuchal skin fold | |
| Frequent (79-30%) | ||
| HP:0012658 | Abnormal brain FDG positron emission tomography | |
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0010523 | Alexia | |
| HP:0000739 | Anxiety | |
| HP:0002186 | Apraxia | |
| HP:0000716 | Depression | |
| HP:0011204 | EEG with continuous slow activity | |
| Occasional (29-5%) | ||
| HP:0002366 | Abnormal lower motor neuron morphology | |
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0002446 | Astrocytosis | |
| HP:0000708 | Atypical behavior | |
| HP:0010526 | Dysgraphia | |
| HP:0002427 | Motor aphasia | |
| HP:0002300 | Mutism | |
| HP:0001300 | Parkinsonism | |
| HP:0030223 | Perseveration | |
| HP:0000751 | Personality changes | |
| HP:0000711 | Restlessness | |
| HP:0100256 | Senile plaques | |
| Excluded (0%) | ||
| HP:0030692 | Brain neoplasm | |
| HP:0100315 | Lewy bodies | |
| HP:0002185 | Neurofibrillary tangles | |
| HP:0001297 | Stroke | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 11310619[PMID]_7114808[PMID]_22608668[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/100070
- This record as JSON: /data/d/100070.json