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HTRA1-related autosomal dominant cerebral small vessel disease

MedGen UID:
1799991
•Concept ID:
C5568568
•
Disease or Syndrome
Synonyms: HtrA serine peptidase 1-related autosomal dominant cerebral small vessel disease; HTRA1-related autosomal dominant cerebral angiopathy
SNOMED CT: HTRA1-related autosomal dominant cerebral small vessel disease (1186724002); HtrA serine peptidase 1-related autosomal dominant cerebral small vessel disease (1186724002); HTRA1-related autosomal dominant cerebral angiopathy (1186724002)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018832
Orphanet: ORPHA482077

Definition

A rare genetic cerebral small vessel disease characterized by subcortical ischemic events associated with cognitive decline and gait disturbance with an age of onset typically in the sixth or seventh decade of life. Imaging reveals white matter hyperintensities, status cribrosum, lacunar infarcts and sometimes microbleeds. Extra-neurological manifestations are absent. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHTRA1-related autosomal dominant cerebral small vessel disease

Recent clinical studies

Etiology

Monogenic causes of cerebral small vessel disease and stroke.
Guey S, Chabriat H
Handb Clin Neurol 2024;204:273-287. doi: 10.1016/B978-0-323-99209-1.00018-1. PMID: 39322384
Heterogeneous blood-brain barrier dysfunction in cerebral small vessel diseases.
Ying Y, Li Y, Yao T, Shao X, Tang W, Montagne A, Chabriat H, Wang DJJ, Wang C, Yang Q, Cheng X
Alzheimers Dement 2024 Jul;20(7):4527-4539. Epub 2024 May 24 doi: 10.1002/alz.13874. PMID: 38787758Free PMC Article
Report of two pedigrees with heterozygous HTRA1 variants-related cerebral small vessel disease and literature review.
Zhou H, Jiao B, Ouyang Z, Wu Q, Shen L, Fang L
Mol Genet Genomic Med 2022 Oct;10(10):e2032. Epub 2022 Aug 10 doi: 10.1002/mgg3.2032. PMID: 35946346Free PMC Article
HTRA1-related autosomal dominant cerebral small vessel disease.
Liu JY, Zhu YC, Zhou LX, Wei YP, Mao CH, Cui LY, Peng B, Yao M
Chin Med J (Engl) 2020 Oct 26;134(2):178-184. doi: 10.1097/CM9.0000000000001176. PMID: 33109952Free PMC Article
Hereditary causes of ischemic cerebral small vessel disease.
Paraskevas GP
Hell J Nucl Med 2019 Jan-Apr;22 Suppl:95-101. PMID: 30877727

Diagnosis

Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants.
Muthusamy K, Ferrer A, Klee EW, Wierenga KJ, Gavrilova RH
Mol Genet Genomic Med 2021 Oct;9(10):e1799. Epub 2021 Sep 12 doi: 10.1002/mgg3.1799. PMID: 34510819Free PMC Article
One Disease with two Faces: Semidominant Inheritance of a Novel HTRA1 Mutation in a Consanguineous Family.
Bekircan-Kurt CE, Çetinkaya A, Gocmen R, Koşukcu C, Soylemezoglu F, Arsava EM, Tuncer A, Erdem-Ozdamar S, Akarsu NA, Topcuoglu MA
J Stroke Cerebrovasc Dis 2021 Sep;30(9):105997. Epub 2021 Jul 21 doi: 10.1016/j.jstrokecerebrovasdis.2021.105997. PMID: 34303089
HTRA1-related autosomal dominant cerebral small vessel disease.
Liu JY, Zhu YC, Zhou LX, Wei YP, Mao CH, Cui LY, Peng B, Yao M
Chin Med J (Engl) 2020 Oct 26;134(2):178-184. doi: 10.1097/CM9.0000000000001176. PMID: 33109952Free PMC Article

Prognosis

Genotype-phenotype correlations of heterozygous HTRA1-related cerebral small vessel disease: case report and systematic review.
Zhang H, Qin X, Shi Y, Gao X, Wang F, Wang H, Shang J, Zhao J, Zhang J, Shao F
Neurogenetics 2021 Jul;22(3):187-194. Epub 2021 May 8 doi: 10.1007/s10048-021-00646-5. PMID: 33963955

Clinical prediction guides

Heterogeneous blood-brain barrier dysfunction in cerebral small vessel diseases.
Ying Y, Li Y, Yao T, Shao X, Tang W, Montagne A, Chabriat H, Wang DJJ, Wang C, Yang Q, Cheng X
Alzheimers Dement 2024 Jul;20(7):4527-4539. Epub 2024 May 24 doi: 10.1002/alz.13874. PMID: 38787758Free PMC Article
Genotype-phenotype correlations of heterozygous HTRA1-related cerebral small vessel disease: case report and systematic review.
Zhang H, Qin X, Shi Y, Gao X, Wang F, Wang H, Shang J, Zhao J, Zhang J, Shao F
Neurogenetics 2021 Jul;22(3):187-194. Epub 2021 May 8 doi: 10.1007/s10048-021-00646-5. PMID: 33963955
HTRA1-related autosomal dominant cerebral small vessel disease.
Liu JY, Zhu YC, Zhou LX, Wei YP, Mao CH, Cui LY, Peng B, Yao M
Chin Med J (Engl) 2020 Oct 26;134(2):178-184. doi: 10.1097/CM9.0000000000001176. PMID: 33109952Free PMC Article

Recent systematic reviews

One Disease with two Faces: Semidominant Inheritance of a Novel HTRA1 Mutation in a Consanguineous Family.
Bekircan-Kurt CE, Çetinkaya A, Gocmen R, Koşukcu C, Soylemezoglu F, Arsava EM, Tuncer A, Erdem-Ozdamar S, Akarsu NA, Topcuoglu MA
J Stroke Cerebrovasc Dis 2021 Sep;30(9):105997. Epub 2021 Jul 21 doi: 10.1016/j.jstrokecerebrovasdis.2021.105997. PMID: 34303089
Genotype-phenotype correlations of heterozygous HTRA1-related cerebral small vessel disease: case report and systematic review.
Zhang H, Qin X, Shi Y, Gao X, Wang F, Wang H, Shang J, Zhao J, Zhang J, Shao F
Neurogenetics 2021 Jul;22(3):187-194. Epub 2021 May 8 doi: 10.1007/s10048-021-00646-5. PMID: 33963955

Supplemental Content

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    Reviews

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    • PMC Articles
      Related information in PubMed Central Links
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