LAUSR

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), an autosomal recessive inherited cerebral small vessel disease (CSVD), is characterized by early adult-onset dementia with white matter lesions and multiple lacunae and is accompanied by spondylosis deformans and alopecia. The clinical cardinal symptoms of CARASIL vary at different stages of the disease, which makes its diagnosis difficult. However, genetic testing can act as a powerful tool for the diagnosis as CARASIL has been confirmed to be caused by mutations in the high-temperature serine peptidase A1 (HTRA1) gene [1]. Here, we reported a newly discovered Chinese family with HTRA1 homozygous splicing mutation associated with CARASIL.