Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is an autosomal dominant vascular dementia, linked to a gene on chromosome 19, that presents with multiple lacunar and subcortical white matter infarctions. There is disproportionate cortical hypometabolism. Presenile dementia and migraines develop in the third to fourth decades of life.
CADASIL is an autosomal dominant trait, with patients typically becoming symptomatic in adulthood (30 - 50 years of age).
Presentation is usually with recurrent transient ischaemic attacks (TIAs) or strokes in multiple vascular territories, and eventual dementia. Clinically often has similar presentation as migraines and may also have auras. Depression, psychosis, pseudobulbar palsy and focal neurological defects are also seen 2,3.
CADASIL results from a mutation on chromosome 19q12 involving the Notch 3 gene, and as the name implies is inherited as an autosomal dominant trait. Histologically an angiopathy of small and middle sized arteries is characteristic, without atherosclerosis or amyloid deposition 3. Diagnosis requires genetic identification of the mutated gene 4.
CT is non-specific, demonstrating white matter regions of low attenuation.
MRI is the investigation of choice, often demonstrating widespread confluent white matter hyperintensities 2. More circumscribed hyperintense lesions are also seen in the basal ganglia, thalamus and pons 3.
Although the subcortical white matter can be diffusely involved, the frontal (93%) and temporal (86%) lobes and subinsular white matter (93%) are classical 2.
There is relative sparing of the occipital and orbitofrontal subcortical white matter 2, U-fibers and cortex 3.
Cerebral microhaemorrhages have been reported to occur in 25 - 70% of cases without a characteristic distribution 1.
Treatment and prognosis
Typically the disease has a variable but progressive course leading to death between 50 - 70 years of age 2,4.
General imaging differential considerations include
- 1. Blitstein MK, Tung GA. MRI of cerebral microhemorrhages. AJR Am J Roentgenol. 2007;189 (3): 720-5. doi:10.2214/AJR.07.2249 - Pubmed citation
- 2. Yousry TA, Seelos K, Mayer M et-al. Characteristic MR lesion pattern and correlation of T1 and T2 lesion volume with neurologic and neuropsychological findings in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). AJNR Am J Neuroradiol. 1999;20 (1): 91-100. AJNR Am J Neuroradiol (full text) - Pubmed citation
- 3. Auer DP, Pütz B, Gössl C et-al. Differential lesion patterns in CADASIL and sporadic subcortical arteriosclerotic encephalopathy: MR imaging study with statistical parametric group comparison. Radiology. 2001;218 (2): 443-51. Radiology (full text) - Pubmed citation
- 4. Bohlega S, Al Shubili A, Edris A et-al. CADASIL in Arabs: clinical and genetic findings. BMC Med. Genet. 2007;8 : 67. doi:10.1186/1471-2350-8-67 - Free text at pubmed - Pubmed citation
- 5. Lotz PR, Ballinger WE, Quisling RG. Subcortical arteriosclerotic encephalopathy: CT spectrum and pathologic correlation. AJR Am J Roentgenol. 1986;147 (6): 1209-14. AJR Am J Roentgenol (abstract) - Pubmed citation
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