- 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: 7/9. (PMID:16864835)
- 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: 5/8. (PMID:10371078;PMID:16864835)
- 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: IEA. (OMIM:125310)
- Urinary incontinence (HP:0000020): Loss of the ability to control the urinary bladder leading to involuntary urination. Evidence: PCS. Frequency: 3/9. (PMID:16864835)
- Abulia (HP:0012671): Abulia is characterized by difficulty in initiating and sustaining spontaneous movements; the person often appears frozen but will move hesitantly on request. There are frequently substantial reductions in emotional responsiveness, spontaneous speech, and social interaction. The individual appears to be content to remain still and inactive with minimal movement, but moves or reacts hesitantly in response to interactions. Evidence: PCS. Frequency: 1/1. (PMID:10371078)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 3/7. (PMID:16864835)
- Varicose veins (HP:0002619): Enlarged and tortuous veins. Evidence: PCS. (PMID:16864835)
- Subcortical dementia (HP:0007123): A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change. Evidence: IEA. (OMIM:125310)
- Pseudobulbar paralysis (HP:0007024): Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing. Evidence: IEA. (OMIM:125310)
- Hemiparesis (HP:0001269): Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. Evidence: PCS. Frequency: 5/9. (PMID:16864835)
- Personality changes (HP:0000751): An abnormal shift in patterns of thinking, acting, or feeling. Evidence: PCS. Frequency: 1/1. (PMID:10371078)
- Abnormal electroretinogram (HP:0000512): Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography. Evidence: IEA. (OMIM:125310)
- Visual loss (HP:0000572): Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that). Evidence: IEA. Frequency: Occasional (HP:0040283). (OMIM:125310)
- 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: 1/1. (PMID:10371078)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: IEA. (OMIM:125310)
- Perseverative thought (HP:0030223): The repetitive production of the same response to different commands. Evidence: PCS. Frequency: 1/1. (PMID:10371078)
- Migraine (HP:0002076): Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. Evidence: PCS. Frequency: 6/9. (PMID:16864835)
- Leukoencephalopathy (HP:0002352): This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells. Evidence: PCS. Frequency: 1/1. (PMID:10371078)
- 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: 7/9. (PMID:16864835)
- Psychosis (HP:0000709): A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis. Evidence: PCS. Frequency: 1/1. (PMID:10371078)
- Atypical behavior (HP:0000708): Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will. Evidence: TAS. (OMIM:125310)
- 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: 5/10. (PMID:10371078;PMID:16864835)
- Abnormality of visual evoked potentials (HP:0000649): An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex. Evidence: IEA. (OMIM:125310)
- Peripheral neuropathy (HP:0009830): Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. Evidence: IEA. Frequency: Occasional (HP:0040283). (OMIM:125310)
- Recurrent subcortical infarcts (HP:0007236). Evidence: IEA. (OMIM:125310)
- Vascular granular osmiophilic material deposition (HP:0003657): Accumulation of granular osmiophilic material in blood vessel walls. Osmiophilic material becomes black upon staining with osmium tetroxide. Deposition of granular osmiophilic material (GOM) is the vascular pathological hallmark of CADASIL, which is the most prevalent hereditary small vessel disease and is caused by missense mutations in the NOTCH3 gene. GOM have been shown to contain NOTCH3 ectodomain (NOTCH3ECD) and extracellular matrix proteins, and can be visualized ultrastructurally in the tunica media of small arteries and capillaries. These electron dense GOM deposits are located in the basement membrane of mural cells, i.e. vascular smooth muscle cells and pericytes. In both manifest and pre-manifest CADASIL patients, GOM deposits are present not only in brain vessels, but also in vessels of other organs, such as the skin. Evidence: PCS. (PMID:10371078)
- Nonarteritic anterior ischemic optic neuropathy (HP:0007634): An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disk or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates. Evidence: IEA. (OMIM:125310)
- 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:8878478)
These phenotypes are associated with the disease cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 (OMIM:125310).