Complementary examinations other than neuroimaging and neurosonology in acute stroke

Table 4 Classification for genetic disorders associated with hemorrhagic stroke[35]

Coagulation	Genetic pattern	Inheritance	Gene
Congenital deficiencies of clotting factors
Factor VIII	Monogenic	X-link R	Xq28
Factor IX	Monogenic	X-link R	Xq27.1-q27.2
Factor XIII	Monogenic	AR	6p25-p24
Factor VII	Monogenic	AR	13q34
Factor X	Monogenic	AR	3q34
Factor XI	Monogenic	AR	4q35
Afibrinogenemia	Monogenic	AR	4q28
Polymorphism of clotting factors			1q23
Factor V Leiden (G1619A)	Polymorphism
Factor XIII Val34Leu	Polymorphism		6p25-p24
Factor XIII Tyr204Phe	Polymorphism		6p25-p24
Factor XIII Pro564Leu	Polymorphism		6p25-p24
Factor VII-323Del/Ins	Polymorphism		13q34
PAI-I 4G/5G	Polymorphism		7q21.3-q22
Platelet disorders
Thrombocytopenia-absent radius	Monogenic	AR	?
Wiskott-Aldrich syndrome	Monogenic	X-link R	Xp11.23-p11.22
Bernard-Soulier syndrome	Monogenic	AD	22p11.2-17pter-p12
Glanzmann thrombasthenia	Monogenic	AR	17q21.32
Storage pool deficiency	Genetic heterogeneity
Sickle-cell disease	Monogenic	AR	Mutation A→T, Glu6Val in beta chain of hemoglobin 11p15.5
Vascular malformations
Multiple cavernomatosis	Polygenic
CCM1		AD	7q11.2-q21
CCM2		AD	7p15-13
CCM3		AD	3q25.2-27
Arteriovenous malformations	?	?	?
Hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber)	Polygenic
THH type 1		AD	Endoglin gene, 9q
THH type 2		AD	Activin receptor-likekinase, 12q
Von Hippel-Lindau disease	Monogenic	AD	3p26-p25
Bannayan-Zonana syndrome	Monogenic	AD	10q23.3
Familial venous malformations	Monogenic	AD	Mutation gene Tie-2, 9p
Cerebral aneurysms and SAH	Polygenic	?	Ligament 5q22-q31
			Ligament 7q11
			Ligament 14q22
Alpha-1 antitrypsin	Polymorphism		Alleles Z and S, 14q32.1
Endoglin gene	Polymorphism		Intron insertion 7, 9q
MMP-9 gene	Polymorphism		-736 (CA)23 9q34.1
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
	Polygenic	AD	3p24.2-p25
Polycystic kidney disease
ADPKD 1		AD	16p13.3
ADPKD 2		AD	4q13-23
ADPKD 3		AD	?
ARPKD		AR	6p21.1-p12
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
		AD/AR?	17q25
CADASIL	Monogenic	AD	Notch3, 19p12
Metabolic disorders
Fabry disease	Monogenic	X-link R	GLA Xq21.3-22
MELAS		mitochondrial
Amyloidosis related genes
Hereditary cerebral hemorrhage with amyloidosis
Dutch type	Monogenic (genetic heterogeneity)	AD	Mutations amyloid-beta precursos protein, 21q21
Icelandic type	Monogenic	AD	Substitution Leu68 → GlnCystatin C gene, 20p11.2
Cerebral amyloid angiopathy	?	?	APOE, alleles E2, E4
			19q13.2
Transtiretine gene	Monogenic	AD	18q11.2-q12.1
Genes and HTA	Polygenic

MMP-9: Matrix metalloproteinase-9; AD: Autosomal dominant; AR: Autosomal recessive; SAH: Subarachnoidal hemorrhage; X-link R: Sex linked recessive; ?: Unknown.