Gaucher disease type 3
MIM.231000 1q21
Gaucher disease type III is the subacute form of neuronopathic Gaucher disease. It has later onset and slower progression compared to the acute form of neuronopathic Gaucher disease type 2 (MIM.230900).
Gaucher disease type III is caused by mutation in the gene encoding acid beta-glucosidase (GBA) (MIM. 606463).
2 phenotypic subgroups of Gaucher disease type III have been described:
Gaucher disease type IIIA, characterized by myoclonus and dementia
Gaucher disease type IIIB, characterized by early onset of isolated horizontal supranuclear gaze palsy and aggressive systemic disease
Gaucher disease type IIIC (231005), associated with cardiovascular calcifications
Clinical synopsis
autosomal recessive transmission
highly variable phenotype
onset: usually in childhood (range infancy to late childhood); Adult onset has been reported
short stature
decreased weight
abnormal eye movements
abnormal saccades
supranuclear gaze palsy, horizontal (type IIIB)
vertical ocular movements are usually preserved
squint
hepatomegaly
splenomegaly
subacute neurologic deterioration
seizures
delayed motor development
intellectual deterioration
speech abnormalities
ataxia
spastic paraparesis
myoclonus (subtype 3A)
myoclonic seizures (subtype 3A)
dementia (subtype 3A)
behavioral/psychiatric manifestations
depression
Microscopical synopsis
Gaucher cells in bone marrow
Biology
pancytopenia
thrombocytopenia
decreased beta-glucocerebrosidase protein and activity
See also