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Mol Genet Metab. 2011 Aug;103(4):410-2. doi: 10.1016/j.ymgme.2011.04.015. Epub 2011 May 5.

Glucocerebrosidase mutations do not cause increased Lewy body pathology in Parkinson's disease.

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Queen Square Brain Bank for Neurological Disorders, Institute of Neurology, University College London, UK.


Mutations in the glucocerebrosidase (GBA) gene have been implicated in increased formation of Lewy bodies (LBs) in Parkinson's disease (PD). We found GBA mutation status not to be significantly associated with the density of cortical LBs, after adjusting for sex, age at death, duration of PD and presence of dementia. Comparison of GBA carriers to PD controls found no difference in Alzheimer's disease pathological findings. Our results do not support GBA carriers to have a more advanced neuropathologic disease i.e. increased density of protein aggregates.

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