Phenotypes associated with the disease Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:199354):
- 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. Frequency: Frequent (HP:0040282). (ORPHA:199354)
- Spasticity (HP:0001257): A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:199354)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:199354)
- Stroke-like episode (HP:0002401): No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:199354)
- Spastic ataxia (HP:0002497). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:199354)
- Arteriosclerosis (HP:0002634): Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:199354)
- Back pain (HP:0003418): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:199354)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:199354)
- Cervical spondylosis (HP:0008480): Arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:199354)
- Lower limb pain (HP:0012514): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:199354)
- Deep cerebral white matter hyperintensities (HP:0030892): Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:199354)
- Localized osteoporosis (HP:0040161). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:199354)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:199354)
- Emotional lability (HP:0000712): Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199354)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199354)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199354)
- Irritability (HP:0000737): An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199354)
- Apathy (HP:0000741): Apathy is a quantitative reduction of interest, motivation and the initiation and persistence of goal-directed behavior, where often the accompanying emotions, thoughts, and social interactions are also diminished. The individual is typically non-reactive to provocations, positive or negative, and appears to not care. Distinguished from lethargy which involves lack of physical or mental energy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199354)
- Mental deterioration (HP:0001268): Loss of previously present mental abilities, generally in adults. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199354)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199354)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199354)
- Rigidity (HP:0002063): Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199354)
- Alopecia of scalp (HP:0002293). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199354)
- Diffuse cerebral atrophy (HP:0002506): Diffuse unlocalised atrophy affecting the cerebrum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199354)
- Somatic sensory dysfunction (HP:0003474): An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199354)
- Abnormal pyramidal sign (HP:0007256): Functional neurological abnormalities related to dysfunction of the pyramidal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199354)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199354)
- Akinetic mutism (HP:0012672): The combined absence of spontaneous movement (akinesia) and speech (mutism). There may be eye movements consistent with visual tracking and the person may remember the events occurring at the time of the experience of stupor. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199354)
- Neck pain (HP:0030833): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199354)
- Bilateral tonic-clonic seizure (HP:0002069): A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:199354)
- Kyphoscoliosis (HP:0002751): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:199354)
Not associated with this disease:
- 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: TAS. (ORPHA:199354)