CADASIL type 2
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
CADASIL type 2. This is caused by heterozygous HTRA1 gene mutations. Fully referenced neurology checklist.
Genetics
- This is caused by heterozygous HTRA1 gene mutations
- There is residual HTRA1 protease activity in CADASIL type 2
- The transmission is autosomal dominant
Pathology
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Demographic features
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Clinical features
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Differential diagnosis
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Magnetic resonance imaging (MRI) brain
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Acronym
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References
- Maramattom BV. CADASIL type 2 (HTRA1 cerebral small vessel disease) in an Indian woman. Ann Indian Acad Neurol 2024; 27:597-600.
- Zhang C, Zheng H, Li X, et al. Novel mutations in HTRA1-related cerebral small vessel disease and comparison with CADASIL. Ann Clin Transl Neurol 2022; 9:1586-1595.
- Lee YC, Chung CP, Chao NC, et al. Characterization of heterozygous HTRA1 mutations in Taiwanese patients with cerebral small vessel disease. Stroke 2018; 49:1593-1601.
- Bekircan-Kurt CE, Çetinkaya A, Gocmen R, et al. One disease with two faces: semidominant inheritance of a novel HTRA1 mutation in a consanguineous family. J Stroke Cerebrovasc Dis 2021; 30:105997.
