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

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...

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Bibliographic Details
Published in:Neuropathology 2018-08, Vol.38 (4), p.428-432
Main Authors: Ito, Junko, Nozaki, Hiroaki, Toyoshima, Yasuko, Abe, Takashi, Sato, Aki, Hashidate, Hideki, Igarashi, Shuichi, Onodera, Osamu, Takahashi, Hitoshi, Kakita, Akiyoshi
Format: Article
Language:English
Subjects:
Alopecia
autopsy
CARASIL
cerebral small vessel disease
Cognitive ability
High temperature
HTRA1
Leukoencephalopathy
Missense mutation
Mutation
Neurodegeneration
Patients
Serine
Serine peptidase
Smooth muscle
Spinal cord
Temperature requirements
TGF‐β1
Vascular diseases
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Summary: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 that some patients with heterozygous mutations in HTRA1 may also suffer CSVD. Here, we report the histopathologic features of an autopsied 55‐year‐old male patient who had shown cognitive impairment and multiple cerebral infarcts, and was found to have a heterozygous missense mutation (p.R302Q) in the HTRA1 gene. Histologically, small vessels in the brain and spinal cord showed intimal proliferation, splitting of the internal elastic lamina, and degeneration of smooth muscle cells in the tunica media. Thus, although less severe, the features were quite similar to those of patients with CARASIL, indicating that patients with heterozygous mutations develop CSVD through underlying pathomechanisms similar to those of CARASIL.
ISSN:0919-6544
1440-1789
DOI:10.1111/neup.12473