HTRA serine peptidase 1 gene heterozygous mutation-associated cerebral small vessel disease:a case report
A 52-year-old female patient diagnosed with hereditary cerebral small vessel disease(CSVD),with clinical manifestations of recurrent stroke and mild cognitive impairment was reported.There was no history of hypertension or diabetes,and her maternal grandparents were consanguineous.Her maternal grandmother and mother died of cerebral infarction.Cranial magnetic resonance imaging showed multiple lacunar cerebral infarcts,cerebral white matter degeneration and microhemorrhagic foci,and whole exome sequencing reported a heterozygous mutation c.947A＞G in the high-temperature requirement A serine peptidase 1(HTRA1).For patients with CSVD,the family history should be asked,and for patients with suspected hereditary CSVD,the possibility of HTRA1 heterozygous mutations should be considered.Reasonable use of genetic testing methods to screen high-risk families of CSVD patients and further guide treatment.
Cerebral small vessel diseasesBrain infarctionHigh-temperature requirement A serine peptidase 1Mutation,missenseHereditary cerebral small vessel disease
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