Dementia due to prion disease
Demência devida a doença priônica
CategoryDefinition
Dementia due to prion disease is a primary neurodegenerative disease caused by a group of spongiform encephalopathies resulting from abnormal prion protein accumulation in the brain. These can be sporadic, genetic (caused by mutations in the prion-protein gene), or transmissible (acquired from an infected individual). Onset is insidious and there is a rapid progression of symptoms and impairment characterised by cognitive deficits, ataxia, and motor symptoms (myoclonus, chorea, or dystonia). Diagnosis is typically made on the basis of brain imaging studies, presence of characteristic proteins in spinal fluid, EEG, or genetic testing.
Coding Note
Diagnostic Criteria
- All diagnostic requirements for Dementia are met.
- Dementia is presumed to be attributable to underlying Human Prion Disease, as demonstrated by neuropsychological test data, neuroimaging data, genetic testing, medical tests, and/or clinical history.
- Dementia Due to Prion Disease is caused by a group of spongiform encephalopathies resulting from abnormal prion protein accumulation in the brain. These can be sporadic, genetic (caused by mutations in the prion-protein gene), or transmissible (acquired from an infected individual).
- Onset is insidious and there is a rapid progression of symptoms and impairment often characterized by neurocognitive deficits, ataxia, and motor symptoms (e.g., myoclonus, chorea, or dystonia).
- Diagnosis is typically made on the basis of clinical presentation, brain imaging studies, presence of characteristic proteins in spinal fluid, EEG, and/or genetic testing.
Note: An appropriate diagnosis from the grouping of Human Prion Diseases in the chapter on Diseases of the Nervous System should also be assigned.