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

Updated: Oct 09, 2018
  • Author: Reza Behrouz, DO, FACP; Chief Editor: Helmi L Lutsep, MD  more...
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Presentation

History

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.

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Physical

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

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Causes

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

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