Gaucher disease: New developments in treatment and etiology

Table 1 Worldwide most common mutations in GD

Population	Most frequently observed mutations	Frequency of mutations (%)
Turkish[3]	N370S	61.80
	L444P
Japanese[4]	L444P	55
	F2131
Taiwanese[5]	L444P	78.50
	RecNciI
Czech and Slovak[6]	N370S	76
	L444P
	RecNciI
Ashkenazi Jews[7]	N370S,	93
	c.84-85insG IVS2 + 1G-->A L444P
Hungarian[8]	N370S	70.30
	L444P
	RecNciI
Spanish[9]	N370S	68.70
	L444P

Table 2 Zimran severity score index, 1992 (SSI scores of 0-10: Mild disease; 11-25: Moderate disease; > 25: Severe disease)

Feature	Detail	Score
Cytopenia	Non-splenectomized	1
	Splenectomized
	Leukopenia	1
	Anemia	1
	Thrombocytopenia	1
Splenomegaly	None	0
	Mild	1
	Moderate	2
	Massive	3
Splenectomy		3
Hepatomegaly	None	0
	Mild	1
	Moderate	2
	Massive	3
Liver enzymes (aspartate aminotransferase, alkaline phosphatase, gamma-glutamyltransferase, lactate dehydrogenase)	Normal	0
	Some abnormal	1
	All abnormal	2
Signs of clinical liver disease		4
CNS involvement		20
Other organ involvement (kidney, lungs or any other)		4
Bone disease-objective findings	No signs	0
	X-ray or nuclear scan abnormality	1
Bone disease-objective findings	No pain	0
	Mild pain	2
	Chronic pain unrelated with fractures	3
Bone fractures	No fracture	0
	Post-traumatic fracture	1
	Pathologic fracture or aseptic necrosis	5