A British family with familial cerebral cavernous malformation due to a rare mutation of the CCM2 gene

Acta Neurol Belg. 2020 Oct;120(5):1227-1229. doi: 10.1007/s13760-020-01329-y. Epub 2020 Mar 13.

Authors

Muhammed Noushad¹, Shakya Bhattacharjee², Stuart J Weatherby¹, Peter Whitefield³

Affiliations

¹ Department of Neurology, University Hospital Plymouth NHS Trust, Plymouth, PL6 8DH, UK.
² Department of Neurology, University Hospital Plymouth NHS Trust, Plymouth, PL6 8DH, UK. bubai.shakya@gmail.com.
³ Department of Neurosurgery, University Hospital Plymouth NHS Trust, Plymouth, UK.

PMID: 32170606
DOI: 10.1007/s13760-020-01329-y

No abstract available

Keywords: Cavernoma; Gene; Headache; Malformation; Mutation.

Publication types

Case Reports
Letter

MeSH terms

Adult
Carrier Proteins / genetics*
Codon, Nonsense
Female
Hemangioma, Cavernous, Central Nervous System / genetics*
Hemangioma, Cavernous, Central Nervous System / pathology*
Humans
Male
Pedigree

Substances

CCM2 protein, human
Carrier Proteins
Codon, Nonsense

Supplementary concepts

Familial cerebral cavernous malformation