Hereditary cerebral haemorrhage with amyloidosis: Dutch type (HCHWA-D)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Hereditary cerebral haemorrhage with amyloidosis: Dutch type (HCHWA-D). It is caused by the E22Q mutation in the amyloid precursor protein gene.
Genetics
- It is caused by the E22Q mutation in the amyloid precursor protein gene
- This is on chromosome 21
- The transmission is autosomal dominant
- The mutation alters the Aβ1-42: A β1-40 ratio
Pathological features
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Clinical features
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Magnetic resonance imaging (MRI) brain
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References
- Kamp JA, Moursel LG, Haan J, et al. Amyloid β in hereditary cerebral hemorrhage with amyloidosis-Dutch type. Rev Neurosci 2014; 25:641-651.
- Maat-Schieman M, Roos R, van Duinen S. Hereditary cerebral hemorrhage with amyloidosis-Dutch type. Neuropathology 2005; 25:288-297.
- Bulk M, Moursel LG, van der Graaf LM, et al. Cerebral amyloid angiopathy with vascular iron accumulation and calcification. Stroke 2018; 49:2081-2087.
- Van Nostrand WE, Wagner SL, Haan J, Bakker E, Roos RA. Alzheimer's disease and hereditary cerebral hemorrhage with amyloidosis-Dutch type share a decrease in cerebrospinal fluid levels of amyloid beta-protein precursor. Ann Neurol 1992; 32:215-218.
- Roos RA, Haan J, Van Broeckhoven C. Hereditary cerebral hemorrhage with amyloidosis-Dutch type: a congophilic angiopathy. An overview. Ann N Y Acad Sci 1991; 640:155-160.
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