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Cerebral arteriopathy in ACTA2 mutations: a spectrum of disease highlighted by a case of variable penetrance in two siblings
- Source :
- Journal of Neurosurgery: Pediatrics. :1-6
- Publication Year :
- 2021
- Publisher :
- Journal of Neurosurgery Publishing Group (JNSPG), 2021.
-
Abstract
- Until recently, cerebral arteriopathy due to heterozygous mutations of the ACTA2 gene was considered a variant of moyamoya disease. However, radiographic analysis of patients with these mutations reveals a distinctive angiographic appearance from that seen in moyamoya disease. Several heterozygous missense ACTA2 mutations have been implicated in the development of this distinct cerebrovascular entity; however, the penetrance and systemic manifestations of these mutations vary based on the location of the amino acid replacement within the α–smooth muscle actin protein. The severity of the phenotype may also differ among patients within a single mutation type. There is limited literature on the safety and efficacy of revascularization procedures for ACTA2 arteriopathy, which have been limited to those patients with known Arg179His mutations. The authors provide a review of the breadth of mutations within the ACTA2 literature and report a case of two siblings with de novo ACTA2 Arg258Cys mutations with differing clinical courses, highlighting the utility of indirect revascularization with 8-year follow-up data. This case highlights the importance of early recognition of the angiographic appearance of ACTA2 cerebral arteriopathy and performance of genetic testing, as the location of the mutation impacts clinical presentation and outcomes.
- Subjects :
- Mutation
medicine.diagnostic_test
biology
business.industry
medicine.medical_treatment
General Medicine
Disease
Revascularization
medicine.disease_cause
medicine.disease
Bioinformatics
Penetrance
03 medical and health sciences
0302 clinical medicine
030220 oncology & carcinogenesis
medicine
biology.protein
Missense mutation
Moyamoya disease
ACTA2
business
030217 neurology & neurosurgery
Genetic testing
Subjects
Details
- ISSN :
- 19330715 and 19330707
- Database :
- OpenAIRE
- Journal :
- Journal of Neurosurgery: Pediatrics
- Accession number :
- edsair.doi...........35b129c0db3a27edfc5767b5f718972b