Phenotypes associated with the disease spongiform encephalopathy with neuropsychiatric features (OMIM:606688):
- Encephalopathy (HP:0001298): Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. Evidence: PCS. (PMID:9266722)
- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 8/9. (PMID:9266722)
- Parkinsonism (HP:0001300): Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait. Evidence: PCS. Frequency: 6/9. (PMID:9266722)
- Memory impairment (HP:0002354): An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness. Evidence: PCS. Frequency: 3/9. (PMID:9266722)
- Neurofibrillary tangles (HP:0002185): Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form. Evidence: PCS. Frequency: 0/3. (PMID:9266722)
- Gliosis (HP:0002171): Gliosis is the focal proliferation of glial cells in the central nervous system. Evidence: PCS. (PMID:9266722)
- Dementia (HP:0000726): A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. Evidence: PCS. Frequency: 9/9. (PMID:9266722)
- Cerebral cortex with spongiform changes (HP:0006790). Evidence: PCS. Frequency: 3/3. (PMID:9266722)
- Aggressive behavior (HP:0000718): Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires). Evidence: PCS. Frequency: 4/9. (PMID:9266722)
- Late young adult onset (HP:0025710): Onset of disease at an age of greater than or equal to 25 to under 40 years. Evidence: PCS. Frequency: 1/9. (PMID:9266722)
- Personality changes (HP:0000751): An abnormal shift in patterns of thinking, acting, or feeling. Evidence: PCS. Frequency: 9/9. (PMID:9266722)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:9266722)
- Hyperorality (HP:0000710): Hyperorality is a condition characterized by an excessive preoccupation with oral sensations and behaviors, such as chewing, sucking, biting, swallowing, and excessive mouthing of objects. Evidence: PCS. Frequency: 5/9. (PMID:9266722)