Proposed Diagnostic Criteria for Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy

1. Probable cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): 

a. Young age at onset (≤50 years of age).

b. At least two of the following:

 i. Clinical stroke-like episodes with permanent neurological signs.

 ii. Migraine.

 iii. Major mood disturbances.

 iv. “Subcortical-type” dementia.

c. No vascular risk factor etiologically related to the deficit.

d. Evidence of an inherited autosomal-dominant transmission.

e. Abnormal magnetic resonance imaging (MRI) imaging of the white matter without cortical infarcts.

2. Definite CADASIL: 

a. Criteria of probable CADASIL associated with linkage to NOTCH 3 mutation, and/or

b. Pathological findings demonstrating small vessel arteriopathy with granular osmiophilic material.

3. Possible CADASIL: 

a. Late age at onset (≤50).

b. Stroke-like episodes without permanent signs, minor mood disturbances, global dementia.

c. Minor vascular risk factors, such as mild hypertension, mild hyperlipidemia, smoking, and/or use of oral contraceptives.

d. Unknown or incomplete family pedigree.

e. Atypical MRI imaging of the white matter.

4. Exclusion criteria: 

a. Age at onset over 70 years.

b. Severe hypertension or complicated heart or systemic vascular disease.

c. Absence of any other case in a documented pedigree.

d. Normal MRI imaging, age over 35 years. 

Davous P. CADASIL: a review with proposed diagnostic criteria. Eur J Neurol 1998;5:230.