Article
Clinical features and pathogenicity assessment in patients with HTRA1-autosomal dominant disease.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Feb 2023
He Zheng, Wang Lijun, Zhang Yichi, Yin Chunmao, Niu Yanliang
Abstract excerpt
BACKGROUND: Heterozygous mutations in HTRA1 were recently found to cause autosomal dominant cerebral small vessel disease (CSVD), and it was named HTRA1-autosomal dominant disease (AD-HTRA1) in the consensus recommendations of the European Academy of Neurology. This study aimed to investigate the clinical features of a mutation in HTRA1 and the effect of HTRA1 mutation on white matter hyperintensity (WMH)....
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