Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants,Molecular Genetics & Genomic Medicine

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Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2021-09-12 , DOI: 10.1002/mgg3.1799
Karthik Muthusamy ₁ , Alejandro Ferrer ₂ , Eric W Klee _{1,

2,

3} , Klaas J Wierenga ₄ , Ralitza H Gavrilova _{1,

5}

Affiliation

Biallelic pathogenic variants in HTRA1 cause CARASIL. More recently, monoallelic variants have been associated with the autosomal dominant disorder CADASIL2 but not all carriers develop disease manifestations. We describe the clinicoradiologic and mutation spectrum of four new CADASIL2 individuals.

中文翻译：

脑小血管病的临床放射学和遗传特征表明单等位基因 HTRA1 变异的遗传模式存在差异

HTRA1中的双等位基因致病变异会导致 CARASIL。最近，单等位基因变异与常染色体显性遗传疾病 CADASIL2 相关，但并非所有携带者都会出现疾病表现。我们描述了四个新 CADASIL2 个体的临床放射学和突变谱。

更新日期：2021-11-10

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