- Status cribrosum (HP:0025012): Diffusely widened perivascular spaces in the basal ganglia, affecting especially the corpus striatum. Status cribrosum is usually symmetrical, with the perivascular spaces showing CSF signal and without diffusion restriction. The word cribriform means sievelike, with multiple perforations. Evidence: PCS. Frequency: 7/8. (PMID:26063658)
- Stroke (HP:0001297): Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. Evidence: PCS. Frequency: 6/11. (PMID:26063658)
- 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: 3/8. (PMID:26063658)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: PCS. Frequency: 6/10. (PMID:26063658)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: PCS. Frequency: 1/11. (PMID:26063658)
- Late onset (HP:0003584): A type of adult onset with onset of symptoms after the age of 60 years. Evidence: PCS. Frequency: 5/8. (PMID:26063658)
- Lacunar stroke (HP:0032325): A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain. Evidence: PCS. Frequency: 10/11. (PMID:26063658)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: PCS. Frequency: 5/10. (PMID:26063658)
- Dilation of Virchow-Robin spaces (HP:0012520): Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery. Evidence: PCS. (PMID:26063658)
- 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: 1/11. (PMID:26063658)
- Hyperintensity of cerebral white matter on MRI (HP:0030890): A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter. Evidence: PCS. Frequency: 11/11. (PMID:26063658)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: PCS. Frequency: 5/11. (PMID:26063658)
- Recurrent subcortical infarcts (HP:0007236). Evidence: PCS. (PMID:26063658)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: PCS. Frequency: 2/11. (PMID:26063658)
- Transient ischemic attack (HP:0002326). Evidence: PCS. Frequency: 6/11. (PMID:26063658)
- Mental deterioration (HP:0001268): Loss of previously present mental abilities, generally in adults. Evidence: PCS. (PMID:26063658)
- 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:26063658)
These phenotypes are associated with the disease cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 (OMIM:616779).