Heterozygous HTRA1 mutations may play a role in familial cerebral small vessel disease (SVD), according to an Italian study published online August 6th in CNS Neuroscience Therapeutics.
The scientists from the University of Siena,Italy performed mutational analysis of HTRA1 gene in 142 NOTCH3-negative patients and 160 healthy age-matched controls. They 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.
The observations support the pathogenic role of the heterozygous HTRA1 mutations in familial SVD.
Source: Health Medicine Network | 2017