EIF4G1 R1205H and VPS35 D620N mutations are rare in Parkinson's disease from South Africa
J Blanckenberg, C Ntsapi, JA Carr, S Bardien - Neurobiology of aging, 2014 - Elsevier
The R1205H mutation in the eukaryotic translation initiation factor 4G1 (EIF4G1) gene and
the D620N mutation in the vacuolar protein sorting 35 (VPS35) gene were recently found in
patients with autosomal dominant or sporadic forms of Parkinson's disease (PD). In the
present study, 418 South African PD patients and 528 control subjects of diverse ethnicities
were screened using the KASP (Kompetitive Allele Specific PCR) genotyping assay. The
mutations were not found in our study, suggesting that they are not a common cause of PD …
the D620N mutation in the vacuolar protein sorting 35 (VPS35) gene were recently found in
patients with autosomal dominant or sporadic forms of Parkinson's disease (PD). In the
present study, 418 South African PD patients and 528 control subjects of diverse ethnicities
were screened using the KASP (Kompetitive Allele Specific PCR) genotyping assay. The
mutations were not found in our study, suggesting that they are not a common cause of PD …
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