Progressive non-fluent aphasia
ORPHA:100070DiseaseMultigenic/multifactorial, Not applicableAdult
Ассоциированные гены8
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| TMEM106B | transmembrane protein 106B | Major susceptibility factor in | gene with protein product | 613413 |
| PSEN1 | presenilin 1 | Disease-causing germline mutation(s) in | gene with protein product | 104311 |
| CHMP2B | charged multivesicular body protein 2B | Major susceptibility factor in | gene with protein product | 609512 |
| TREM2 | triggering receptor expressed on myeloid cells 2 | Major susceptibility factor in | gene with protein product | 605086 |
| VCP | valosin containing protein | Major susceptibility factor in | gene with protein product | 601023 |
| MAPT | microtubule associated protein tau | Major susceptibility factor in | gene with protein product | 157140 |
| GRN | granulin precursor | Major susceptibility factor in | gene with protein product | 138945 |
| C9ORF72 | C9orf72-SMCR8 complex subunit | Major susceptibility factor in | gene with protein product | 614260 |
Фенотипы (HPO)32
Очень частый (80–99%)9
HP:0000474Thickened nuchal skin fold
HP:0001268Mental deterioration
HP:0002145Frontotemporal dementia
HP:0002354Memory impairment
HP:0002381Aphasia
HP:0006892Frontotemporal cerebral atrophy
HP:0006977Grammar-specific speech disorder
HP:0007112Temporal cortical atrophy
HP:0030391Spoken Word Recognition Deficit
Частый (30–79%)7
HP:0000716Depression
HP:0000739Anxiety
HP:0002186Apraxia
HP:0002500Abnormal cerebral white matter morphology
HP:0010523Alexia
HP:0011204EEG with continuous slow activity
HP:0012658Abnormal brain FDG positron emission tomography
Периодический (5–29%)12
HP:0000708Atypical behavior
HP:0000711Restlessness
HP:0000751Personality changes
HP:0001300Parkinsonism
HP:0002071Abnormality of extrapyramidal motor function
HP:0002300Mutism
HP:0002366Abnormal lower motor neuron morphology
HP:0002427Motor aphasia
HP:0002446Astrocytosis
HP:0010526Dysgraphia
HP:0030223Perseveration
HP:0100256Senile plaques
Исключён (0%)4
HP:0001297Stroke
HP:0002185Neurofibrillary tangles
HP:0030692Brain neoplasm
HP:0100315Lewy bodies
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2.5 | Europe | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.7 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)