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Diseases

Genetic and Rare Diseases Information Center (GARD)

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CADASIL


Other Names for this Disease

  • CASIL
  • Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
  • Dementia, hereditary multi-infarct type
  • Familial vascular leukoencephalopathy
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Symptoms

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What are the signs and symptoms of CADASIL?

Strokes are the main feature of the disease. The mean age at onset for stroke-like episodes is 46 years. These stroke-like episodes are often recurrent, leading to severe disability with inability to walk and urinary incontinence. Cognitive deficits, the second most frequent feature, are observed in over half of symptomatic individuals and may start as early as age 35 years. Most experience slowly progressive cognitive decline and approximately 75% of affected individuals develop dementia (severe deficits in executive functioning, verbal fluency, and memory). Migraines with aura occur in about 35% of individuals with CADASIL, with the first attack occurring at a mean age of 26 years. Thirty percent of individuals with CADASIL experience psychiatric disturbance, varying from personality changes to severe depression. Epilepsy is present in 10% of individuals with CADASIL and presents at middle age.[1]
Last updated: 3/22/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for CADASIL. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of temperature regulation 90%
Abnormality of the retinal vasculature 90%
Amaurosis fugax 90%
Behavioral abnormality 90%
Developmental regression 90%
Hemiplegia/hemiparesis 90%
Migraine 90%
Neurological speech impairment 90%
Reduced consciousness/confusion 90%
Cerebral cortical atrophy 50%
Cerebral ischemia 50%
Cranial nerve paralysis 50%
EEG abnormality 50%
Gait disturbance 50%
Hypertonia 50%
Memory impairment 50%
Abnormality of extrapyramidal motor function 7.5%
Atherosclerosis 7.5%
Hearing impairment 7.5%
Hypertension 7.5%
Hypoglycemia 7.5%
Intracranial hemorrhage 7.5%
Peripheral neuropathy 7.5%
Recurrent respiratory infections 7.5%
Seizures 7.5%
Subcutaneous hemorrhage 7.5%
Venous insufficiency 7.5%
Visual loss 5%
Abnormal electroretinogram -
Abnormality of the skin -
Abnormality of vision evoked potentials -
Adult onset -
Autosomal dominant inheritance -
Leukoencephalopathy -
Nonarteritic anterior ischemic optic neuropathy -
Pseudobulbar paralysis -
Recurrent subcortical infarcts -
Stroke -
Subcortical dementia -
Urinary incontinence -
Varicose veins -

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Lesnik Oberstein SAJ, Boom EMJ, Dichgans M. CADASIL. GeneReviews. July 23, 2009; http://www.ncbi.nlm.nih.gov/books/NBK1500/. Accessed 3/22/2011.


Other Names for this Disease
  • CASIL
  • Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
  • Dementia, hereditary multi-infarct type
  • Familial vascular leukoencephalopathy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.