- 1 Proposed Diagnostic Criteria for Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy
- 2 Reference:
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.
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
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.