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Histopathologic features of an autopsied patient with cerebral small vessel disease and a heterozygous HTRA1 mutation

25 May 2018

Abstract excerpt

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a hereditary cerebral small vessel disease (CSVD) caused by homozygous or compound heterozygous mutations of the high temperature requirement A serine peptidase 1 gene (HTRA1). Affected patients suffer from cognitive impairment, recurrent strokes, lumbago and alopecia. Recently, clinical studies have indicated...

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PMID: 29797751
DOI: 10.1111/neup.12473

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