CARASAL
Evidence-based neurology checklist on carasal: Genetics This is cathepsin A-related arteriopathy with strokes and leukoencephalopathy It is an adult-onset cerebral small vessel disease. Subjects are of European ancestry It is caused by point mutations in the CTSA gene The transmission is autosomal…
Genetics
- This is cathepsin A-related arteriopathy with strokes and leukoencephalopathy
- It is an adult-onset cerebral small vessel disease.
- Subjects are of European ancestry
- It is caused by point mutations in the CTSA gene
- The transmission is autosomal dominant
Cerebral features
Brainstem features
Psychiatric features
Magnetic resonance imaging (MRI) brain: sites of T2 signal changes
Magnetic resonance imaging (MRI) brain: other features
Acronym
References
- Bugiani M, Kevelam SH, Bakels HS, et al. Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL). Neurology 2016; 87:1777-1786.
- Finsterer J, Scorza CA, Scorza FA, Wakil SM. Update on hereditary, autosomal dominant cathepsin-A-related arteriopathy with strokes and leukoencephalopathy (CARASAL). Acta Neurol Belg 2019; 119:299-303.
- Budhdeo S, de Paiva ARB, Wade C, et al. A rare cause of monogenic cerebral small vessel disease and stroke: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL). J Neurol 2022; 269:6673-6677.
- Hwang YT, Lakshmanan R, Davagnanam I, et al. Brainstem phenotype of cathepsin A-related arteriopathy with strokes and leukoencephalopathy. Neurol Genet 2017; 3:e165.
- Cerfontaine MN, Gravesteijn G, Hack RJ, et al. Expanding the clinicoradiologic phenotype of the CTSA-associated small vessel disease CARASAL: a comparison with CADASIL. Neurol Genet 2026; 12:e200358.
