Dopaminergic neuronal dysfunction associated with parkinsonism in both a Gaucher disease patient and a carrier.

摘要: Abstract A clinical association between Gaucher disease and parkinsonism has been demonstrated. We herein report a Japanese patient with type 3 who was compound heterozygous for F213I L444P mutations in the glucocerebrosidase gene while his father mutation. They both presented characterized by predominance of akinetic-rigid signs favorable response to anti-Parkinson therapies. investigated dopaminergic neuronal function using positron emission tomography (PET) radioligands, [ 11 C] CFT raclopride. PET studies patients demonstrated uptake be severely decreased putamen caudate nucleus, however, raclopride normal basal ganglia. Although majority tend refractory The features findings suggest that associated mutation gene, even heterozygosis, may related presynaptic dysfunction reported Parkinson's disease. study evaluate would provide better understanding effects therapies help improve our ability make an early diagnosis