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Article

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

Journal of the neurological sciences - 15 Aug 2020

Diness Birgitte Rode, Palmquist Rachel Nina, Norling Rikke, Hove Hanne, Bundgaard Henning, Hertz Jens Michael, Kondziella Daniel, Krieger Derk, Dunø Morten, Grønborg Sabine

Abstract excerpt

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...

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Identifiers

PMID: 32464348
DOI: 10.1016/j.jns.2020.116897

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