Cerebral cavernous malformations and unilateral moyamoya in a patient with a new mutation in the KRIT-1 /CCM1 gene

Cerebrovasc Dis. 2014;38(4):311-2. doi: 10.1159/000368215. Epub 2014 Nov 20.

Authors

Marta Melis¹, Milena Cau, Simona Corraine, Simona Secci, Maria Addis, Maurizio Melis

Affiliation

¹ Neuroscience Department, Azienda Ospedaliera G. Brotzu, Cagliari, Sardinia, Italy.

PMID: 25413039
DOI: 10.1159/000368215

No abstract available

Publication types

Case Reports

MeSH terms

Adult
Aged
Angiography, Digital Subtraction
Cerebral Angiography / methods
DNA Mutational Analysis
Female
Genetic Predisposition to Disease
Hemangioma, Cavernous, Central Nervous System / diagnosis
Hemangioma, Cavernous, Central Nervous System / genetics*
Hemangioma, Cavernous, Central Nervous System / surgery
Humans
KRIT1 Protein
Magnetic Resonance Angiography
Male
Microtubule-Associated Proteins / genetics*
Middle Aged
Moyamoya Disease / diagnosis
Moyamoya Disease / genetics*
Mutation*
Pedigree
Phenotype
Proto-Oncogene Proteins / genetics*

Substances

KRIT1 Protein
KRIT1 protein, human
Microtubule-Associated Proteins
Proto-Oncogene Proteins