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CADASIL (Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy) Clinical Presentation

  • Author: Reza Behrouz, DO, FACP; Chief Editor: Helmi L Lutsep, MD  more...
Updated: Nov 25, 2015


CADASIL is characterized by the clinical tetrad of dementia, psychiatric disturbances, migraine, and recurrent strokes.[11] All components may not be present and the severity of associated symptoms and mode of presentation are highly variable.

The most frequent presentation is recurrent ischemic cerebrovascular episodes (transient ischemic attacks or cerebral infarctions).[6] The condition may begin with migraine attacks in young adulthood, some of which may be associated with focal neurologic deficits or complicated migraine.[12] Migraine with aura is more common than without.[6] This is later followed by recurrent transient ischemic attacks and eventually, clinically overt strokes. Cognitive impairment associated with CADASIL is progressive and takes the form of subcortical dementia. A profile of frontal lobe dysfunction, declarative memory impairment suggestive of a retrieval deficit, and relatively preserved language is often evident.[13]

A study of the effects of gender on the presentation of CADASIL found that migraine with aura is more frequent in women aged 51 years and younger and stroke is more frequent in men in the same age group. A higher degree of cognitive impairment and cerebral atrophy was found in men aged 50 years and older at the late stage of the disease.[14]

Other related symptoms that tend to occur late in the disease are gait apraxia, pseudobulbar palsy, and urinary incontinence. CADASIL progresses in a stepwise fashion and the level of disability from the disease is quite heterogeneous, even within pedigrees.[5] Mood disturbances are reported in 10-20% of patients.[15] Seizures[6] and intracerebral hemorrhage[16] have also been described. Recent reports also suggest involvement of the spinal cord.[17]

For more information, see Medscape's Headache, Stroke/Cerebrovascular Disease, and Epilepsy Resource Centers.



Physical features that may be present with CADASIL are as follows:

  • Variable degrees of weakness
  • Variable degrees of sensory deficit
  • Gait apraxia
  • Pseudobulbar palsy
  • Parkinsonism/movement disorders
  • Psychomotor retardation
  • Apathy
  • Depressed affect
  • Psychosis


CADASIL is a genetic disorder due to mutations in the NOTCH3 gene.

Contributor Information and Disclosures

Reza Behrouz, DO, FACP Assistant Professor, Division of Cerebrovascular Diseases and Neurological Critical Care, Department of Neurology, The Ohio State University College of Medicine

Reza Behrouz, DO, FACP is a member of the following medical societies: American Academy of Neurology, American College of Physicians, Society of Critical Care Medicine, Society for Vascular Medicine, Neurocritical Care Society

Disclosure: Nothing to disclose.


Selim R Benbadis, MD Professor, Director of Comprehensive Epilepsy Program, Departments of Neurology and Neurosurgery, Tampa General Hospital, University of South Florida College of Medicine

Selim R Benbadis, MD is a member of the following medical societies: American Academy of Neurology, American Medical Association, American Academy of Sleep Medicine, American Clinical Neurophysiology Society, American Epilepsy Society

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Cyberonics; Eisai; Lundbeck; Sunovion; UCB; Upsher-Smith<br/>Serve(d) as a speaker or a member of a speakers bureau for: Cyberonics; Eisai; Glaxo Smith Kline; Lundbeck; Sunovion; UCB<br/>Received research grant from: Cyberonics; Lundbeck; Sepracor; Sunovion; UCB; Upsher-Smith.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Glenn Lopate, MD Associate Professor, Department of Neurology, Division of Neuromuscular Diseases, Washington University School of Medicine; Consulting Staff, Department of Neurology, Barnes-Jewish Hospital

Glenn Lopate, MD is a member of the following medical societies: American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, Phi Beta Kappa

Disclosure: Nothing to disclose.

Chief Editor

Helmi L Lutsep, MD Professor and Vice Chair, Department of Neurology, Oregon Health and Science University School of Medicine; Associate Director, OHSU Stroke Center

Helmi L Lutsep, MD is a member of the following medical societies: American Academy of Neurology, American Stroke Association

Disclosure: Medscape Neurology Editorial Advisory Board for: Stroke Adjudication Committee, CREST2.

Additional Contributors

Paul E Barkhaus, MD Professor of Neurology and Physical Medicine and Rehabilitation, Department of Neurology, Medical College of Wisconsin; Section Chief, Neuromuscular and Autonomic Disorders, Department of Neurology, Director, ALS Program, Medical College of Wisconsin

Paul E Barkhaus, MD is a member of the following medical societies: American Academy of Neurology, American Neurological Association, American Association of Neuromuscular and Electrodiagnostic Medicine

Disclosure: Nothing to disclose.

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FLAIR MRI of the brain showing hyperintensities involving the temporal poles in a patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). (Reprinted with permission from Mayo Clin Proc, Meschia, 2005.)
FLAIR MRI of the brain showing hyperintensities involving bilateral external capsules in a patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). (Reprinted with permission from Mayo Clin Proc, Meschia, 2005.)
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