Inherited Creutzfeldt-Jakob disease
ORPHA:282166DiseaseAutosomal dominantAdult, Elderly
Ассоциированные гены1
Фенотипы (HPO)50
Частый (30–79%)42
HP:0000504Abnormality of vision
HP:0000605Supranuclear gaze palsy
HP:0000639Nystagmus
HP:0000712Emotional lability
HP:0000716Depression
HP:0000726Dementia
HP:0000736Short attention span
HP:0000737Irritability
HP:0000739Anxiety
HP:0000741Apathy
HP:0000751Personality changes
HP:0001250Seizure
HP:0001289Confusion
HP:0001324Muscle weakness
HP:0001336Myoclonus
HP:0001337Tremor
HP:0001350Slurred speech
HP:0002066Gait ataxia
HP:0002067Bradykinesia
HP:0002073Progressive cerebellar ataxia
HP:0002283Global brain atrophy
HP:0002312Clumsiness
HP:0002401Stroke-like episode
HP:0002446Astrocytosis
HP:0002464Spastic dysarthria
HP:0002529Neuronal loss in central nervous system
HP:0003487Babinski sign
HP:0005327Loss of facial expression
HP:0006943Diffuse spongiform leukoencephalopathy
HP:0007009Central nervous system degeneration
HP:0007017Progressive forgetfulness
HP:0007158Progressive extrapyramidal muscular rigidity
HP:0007183Focal T2 hyperintense basal ganglia lesion
HP:0007256Abnormal pyramidal sign
HP:0010846EEG with persistent abnormal rhythmic activity
HP:0011099Spastic hemiparesis
HP:0012332Abnormal autonomic nervous system physiology
HP:0012672Akinetic mutism
HP:0025152Poor visual behavior for age
HP:0100256Senile plaques
HP:0100785Insomnia
HP:0100786Hypersomnia
Периодический (5–29%)8
HP:0000738Hallucinations
HP:0000746Delusion
HP:0002072Chorea
HP:0002922Increased CSF protein concentration
HP:0007686Abnormal pupillary function
HP:0010542Vestibular nystagmus
HP:0100292Amyloidosis of peripheral nerves
HP:0100661Trigeminal neuralgia
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)