Forskning
Udskriv Udskriv
Switch language
Rigshospitalet - en del af Københavns Universitetshospital
Udgivet

Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD)

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. CT and MR neuroimaging findings in patients with Lyme neuroborreliosis: A national prospective cohort study

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. After stroke, apraxia of eyelid opening is associated with high mortality and right hemispheric infarction

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Public opinion and legislations related to brain death, circulatory death and organ donation

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Guidance for the management of myasthenia gravis (MG) and Lambert-Eaton myasthenic syndrome (LEMS) during the COVID-19 pandemic

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  5. A visual rating scale for cingulate island sign on 18F-FDG-PET to differentiate dementia with Lewy bodies and Alzheimer's disease

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Case report: ‘AARS2 leukodystrophy’

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Data Resource Profile: The Copenhagen Hospital Biobank (CHB)

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

Heterozygous variants in smooth muscle alpha-actin gene (ACTA2) are the most frequent cause of autosomal dominant hereditary thoracic aortic disease (HTAD). Several genotype-phenotype associations have been described, including a severe multisystemic smooth muscle disorder associated with de novo ACTA2 p.R179 variants, characterized by highly penetrant and early onset vascular disease, involvement of smooth muscle cell (SMC)-dependent organs and a distinct cerebrovascular phenotype. Missense variants at position 258 (p.R258C and p.R258H) have also been reported to have a more severe presentation including an increased risk for aortic dissection and a high risk of stroke. It has previously been suggested that the cerebrovascular phenotype of patients with p.R258 variants could represent a mild presentation of the cerebrovascular phenotype associated with p.R179 variants. Here we report on a five generation HTAD family with the p.R258H variant and describe the cerebrovascular findings seen in three family members, to expand on the previously reported phenotype associated with variants at this codon.

OriginalsprogEngelsk
TidsskriftJournal of the Neurological Sciences
Vol/bind415
Sider (fra-til)116897
ISSN0022-510X
DOI
StatusUdgivet - 15 aug. 2020

Bibliografisk note

Copyright © 2020 Elsevier B.V. All rights reserved.

ID: 61293380