Table 1.

CARASIL mutations. Abbreviations: homoz = homozygous; heteroz = heterozygous; ms = missense; ns = nonsense; del = deletion

E	Mutation type	Nucleotide	Protein	Ethnicity	Publication
Far‐Eastern patients
3	homoz, ms	c.754G > A	p.Ala252Thr	Japanese	Hara et al N Engl J Med 2009; 360: 1729–1739. 45
4	homoz, ms	c.889G > A	p.Val297Met
4	homoz, ns	c.904C > T	p.Arg302X
6	homoz, ns	c.1108C > T	p.Arg370X
4	homoz, ms	c.821G > A	p.Arg274Gln	Japanese	Nishimoto et al Neurology 2011; 76:1353–1355.
4	homoz, ms	c.854C > T	p.Pro285Leu	Chinese	Chen et al J Int Med Res 2013; 41:1445–1455. 19
6	homoz, ms	c.1091T > C	p.Leu364Pro	Chinese	Wang et al CNS Neurosci Ther 2012; 18: 867–869. 131
Caucasian patients
4	homoz, ms	c.883G > A	p.Gly295Arg	Spanish	Mendioroz et al Neurology; 2010; 75: 2033–2035. 83
6	homoz, ns	c.1108C > T	p.Arg370X	Turkish	Bayrakli et al Turk Neurosurg 2014; 24:67–69. 8
1 4	compound heteroz, del & ms	c.126delG & c.961G > A	p.Glu42fs & p.Ala321Thr	Romanian	Bianchi et al Neurology 2014; 82:898–900. 9