RT Journal Article
SR Electronic
T1 Parkinsonism among Gaucher disease carriers
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 937
OP 940
DO 10.1136/jmg.2004.024455
VO 41
IS 12
A1 Goker-Alpan, O
A1 Schiffmann, R
A1 LaMarca, M E
A1 Nussbaum, R L
A1 McInerney-Leo, A
A1 Sidransky, E
YR 2004
UL http://jmg.bmj.com/content/41/12/937.abstract
AB An association between Gaucher disease and Parkinson disease has been demonstrated by the concurrence of Gaucher disease and parkinsonism in rare patients and the identification of glucocerebrosidase mutations in probands with sporadic Parkinson disease. Using a different and complementary approach, we describe 10 unrelated families of subjects with Gaucher disease where obligate or confirmed carriers of glucocerebrosidase mutations developed parkinsonism. These observations indicate that mutant glucocerebrosidase, even in heterozygotes, may be a risk factor for the development of parkinsonism. Understanding the relationship between altered glucocerebrosidase and the development of parkinsonian manifestations will provide insights into the genetics, pathogenesis, and treatment of Parkinson disease.