Author(s): Rolfs, Prof. Arndt, MD, Klein, Prof. Christine, MD, Kumar, Kishore, MD, Ramirez, Alfredo, MD, Göbel, Anna, MD, Kresojevic, Nikola, MD, Svetel, Prof. Marina, MD, Lohmann, Katja, PhD, Sue, Prof. Carolyn, PhD, Mazzulli, Joseph R., PhD, Alcalay, Roy N., MD, Krainc, Dimitri, MD, Kostić, Vladimir, MD, Grünewald, Anne, PhD
In the present study, we elucidated, for the first time, the role of GBA mutations in Parkinson´s disease in the Serbian population. Read more!
Gaucher disease (GD) is caused by homozygous or compound heterozygous mutations in the b-glucocerebrosidase (GBA) gene. GBA mutations can be classified according to phenotypic effects as mild (associated with ‘non-neuronopathic’ Type 1 GD) and severe or null (neuronopathic Type 2 or 3 disease). In the present study, we elucidated, for the first time, the role of GBA mutations in PD in the Serbian population, including mutational analysis of exons 8–11, genotype–phenotype comparisons, and haplotyping for the N370S mutation.
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