Complementary examinations other than neuroimaging and neurosonology in acute stroke

Table 3 Classification for genetic disorders associated with ischemic stroke[35]

Coagulation related genes	Genetic pattern	Inheritance	Gene
Congenital deficiencies of clotting factors
Antithrombin III	Monogenic	AD	1q23-25
Protein C	Monogenic	AD/AR	2q13-14
Protein S	Monogenic	AD	3p11.1-q11.2
Heparin cofactor II	Monogenic	AD	22q11
Factor VII	Monogenic	AR	13q34
Factor XII	Monogenic	AR	5q33-ter
Elevated factor VIII	Monogenic	?	Xq28
Plasminogen	Monogenic	AD	6p26
Plasminogen activators	Monogenic	AD	8p12
Polymorphism of clotting factors
Factor V leiden (G1619A)	Polymorphism	Mutation increases risk	1q23
Prothrombin G20210A	Polymorphism	Mutation increases risk	11p11q12
Sickle-cell disease	Monogenic	AR	Mutation A→T, Glu6Val in beta chain of hemoglobin 11p15.5
Connective tissue disorders
Ehlers-Danlos type IV syndrome	Monogenic (genetic heterogeneity)	AD	Mutations Collagen gene type III (COL3·A1) 2q31
Marfan syndrome	Polygenic	AD	Gene fibrillin-1 15q21.1
		AD	3p24.2-p25
Pseudoxanthoma elasticum	Polygenic	AR & AD	16p13.1?
Neurofibromatosis type I	Monogenic (genetic heterogeneity)	AD	17q11.2
Tuberous sclerosis	Polygenic	AD	TSC1 9q34
		AD	TSC2 16p13
		AD	TSC3 and TSC4 ?
Vasculopathies
Fibromuscular dysplasia	Polygenic?	AD?	?
Moya-moya disease	Polygenic	AD/AR?	3p24.2-p26
CADASIL	Monogenic	AD/AR?	17q25
		AD	Notch3, 19p12
Metabolic diseases
Homocystinuria	Monogenic (genetic heterogeneity)	AR	More frequent Cystathionine-beta-synthase 21q22.3
Methylenetetrahydrofolate reductase	Monogenic	AR	1p36.3
Fabry disease	Monogenic	X-link R	GLA Xq21.3-22
MELAS		mitochondrial
Genes and diabetes mellitus, arterial hypertension, dyslipidemia	Variable (genetic heterogeneity)
Genes and myocardiopathy, myxoma and familial arrhythmia	Variable (genetic heterogeneity)

AD: Autosomal dominant; AR: Autosomal recessive; X-link R: Sex linked recessive; ?: Unknown.