Glucocerebrosidase mutations are an important risk factor for Lewy body disorders
O Goker-Alpan, BI Giasson, MJ Eblan, J Nguyen… - Neurology, 2006 - AAN Enterprises
O Goker-Alpan, BI Giasson, MJ Eblan, J Nguyen, HI Hurtig, VMY Lee, JQ Trojanowski…
Neurology, 2006•AAN EnterprisesThe synucleinopathies are neurodegenerative disorders defined by inclusions composed of
aberrantly fibrillized α-synuclein, but factors contributing to this process remain largely
unknown. The authors examined the glucocerebrosidase gene in 75 autopsy specimens
with different synucleinopathies and identified mutations in 23% of cases of dementia with
Lewy bodies, expanding on previous findings in subjects with Parkinson disease. Mutations
in this lysosomal protein may interfere with the clearance or promote aggregation of α …
aberrantly fibrillized α-synuclein, but factors contributing to this process remain largely
unknown. The authors examined the glucocerebrosidase gene in 75 autopsy specimens
with different synucleinopathies and identified mutations in 23% of cases of dementia with
Lewy bodies, expanding on previous findings in subjects with Parkinson disease. Mutations
in this lysosomal protein may interfere with the clearance or promote aggregation of α …
The synucleinopathies are neurodegenerative disorders defined by inclusions composed of aberrantly fibrillized α-synuclein, but factors contributing to this process remain largely unknown. The authors examined the glucocerebrosidase gene in 75 autopsy specimens with different synucleinopathies and identified mutations in 23% of cases of dementia with Lewy bodies, expanding on previous findings in subjects with Parkinson disease. Mutations in this lysosomal protein may interfere with the clearance or promote aggregation of α-synuclein.
American Academy of Neurology