Table 1.

Clinical characteristics of Gaucher Disease

Gaucher Disease	Type I	Type II	Type III
Alternative name	nonneuronopathic	acute neuronopathic	chronic neuronopathic
Disease onset	childhood or adulthood	3–6 months old infants	childhood or adolescence
Life expectancy	childhood or adulthood	dies in infancy (median 9 months)	childhood or early adulthood
Occupying of all GD	90%, the most common type	5–20%	less than 10%
Prevalence	1 in 100,000 in general population	less than 1 in 100,000 live births	less than 1 in 100,000 live births
Special ethnicity	the highest incidence in Ashkenazi Jewish community, ranging from 1 in 800 to 1 in 950	no ethnic difference	Norrbottnian region of Sweden (Norrbottnian Gaucher disease), 1 in 50,000 prevalence
GCase mutant	N370S	Various	L444P
Residual GCase activity	around 15% of control	1.75% of control	nearly absent
Disease course	progressive	rapidly progressive	progressive
Involvement	confined to the reticuloendothelial and skeletal systems with no neuropathic symptoms	accumulation of glucosylceramide in brain, without bone involvement	organomegaly, bone disease and neurological malfunctions
Clinical manifestations	hepatosplenomegaly, anemia, thrombocytopenia and bone disease	early nervous system signs, increased tone, seizures, rigidity of the neck and trunk, swallowing disorders and oculomotor paralysis, cerebellar signs	late onset nervous problems, abnormal horizontal saccades, oculomotor apraxia, myoclonus, seizures, dementia (late stage), cerebellar signs, extrapyramidal finding
Treatment	enzyme replacement therapy, substrate reduction therapy	hematopoietic stem cell transplantation, pharmacological chaperones, gene therapy	hematopoietic stem cell transplantation, pharmacological chaperones, gene therapy