Prevalence and Severity of Non-motor Manifestations in Patients with Gaucher Disease and Heterozygous GBA1 Mutation Carriers (P2.143)

Conclusions: Continued longitudinal evaluation of patients with Gaucher disease and heterozygous carriers of GBA1 mutations may help identify a pre-motor phase in this cohort at risk of developing parkinsonism. This pre-motor profile may suggest specific neurotransmitters involved in neurodegeneration and contribute to a better understanding of the association between lysosomal dysfunction and alpha-synuclein aggregation.Disclosure: Dr. Kim has nothing to disclose. Dr. Cintron has nothing to disclose. Dr. Wiggs has nothing to disclose. Dr. Groden has nothing to disclose. Dr. Sidransky has nothing to disclose. Dr. Lopez has nothing to disclose.

Source: Neurology - April 8, 2015 Category: Neurology Authors: Kim, J., Cintron, D., Wiggs, E., Groden, C., Sidransky, E., Lopez, G. Tags: Movement Disorders: Genetics Source Type: research