Table 1.

Key features of the three types of Gaucher disease (table adapted from Zimran and Elstein, 2010)

	TYPE 1		TYPE 2 (lethal)		TYPE 3
Sub-type	asymptomatic	symptomatic	neonatal	infantile	3a	3b	3c
Common genotype	N370S/N370S or 2 mild mutations	N370S/other or 2 mild mutations	2 null or recombinant mutations	1 null and 1 severe mutation	none	L444P/L444P or many others	D409H/D409H
Ethnic predilection	Ashkenazi Jews	Ashkenazi Jews	none	none	none	panethnic	Palestinian Arabs, Japanese, Spanish
Common presenting features	none	hepato-splenomegaly; hypersplenism; bleeding; bone pains	hydrops fetalis; congenital ichthyosis	abnormal horizontal eye movements; strabismus; opsithotonus; trismus	abnormal horizontal eye movements; myoclonic seizures	abnormal horizontal eye movements; hepatospleno- megaly; growth retardation	abnormal horizontal eye movements; calcification of cardiac valves
CNS involvement	rare; patients may develop Parkinson disease	rare; patients may develop Parkinson disease	lethal	severe	abnormal horizontal eye movements ; slowly progressive neurologic deterioration	abnormal horizontal eye movements ; gradual cognitive deterioration	abnormal horizontal eye movements brachycephalus
Bone involvement	none	variable	not generally documented	not generally documented	mild	moderate to severe; kyphosis (gibbus)	minimal