HTRA1 mutations tied to cerebral small vessel disease
Ilaria Di Donato, M.D., from the University of Siena in Italy, and colleagues performed mutational analysis of HTRA1 gene in 142 NOTCH3-negative patients and 160 healthy age-matched controls.
The researchers found that five different HTRA1 heterozygous mutations were detected in nine patients from five unrelated families. In these patients, the clinical phenotype was typical of SVD, and the onset was pre-senile. A subcortical leukoencephalopathy, with involvement of the external and internal capsule, corpus callosum, and multiple lacunar infarcts, was seen on brain magnetic resonance imaging. Additionally, cerebral microbleeds were seen, but anterior temporal lobe involvement was not present.
"Our observation further supports the pathogenic role of the heterozygous HTRA1 mutations in familial SVD," the authors write.
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