Abstract

MILLA-NEYRA, Karina et al. A53T-SNCA absence in a Peruvian sample of Parkinson’s disease patients. Rev Neuropsiquiatr [online]. 2018, vol.81, n.1, pp.3-8. ISSN 0034-8597.  http://dx.doi.org/https://doi.org/10.20453/rnp.v81i1.3268.

Introduction. Parkinson’s Disease (PD) is a common neurodegenerative disorder, the second most frequent after Alzheimer’s Disease. The A53T mutation in the SNCA gene was the first one identified in association with PD. Most of familial PD cases with this mutation come from regions close to the original discovery site. Objectives: To evaluate the presence of the A53T-SNCA mutation in a Peruvian sample of Parkinson´s Disease cases familial, sporadic and healthy controls. Material and Methods: DNA samples from 34 cases with sporadic PD, 7 cases of familial PD, and 32 control individuals were analyzed by PCR-RFLP. Results: The A53T mutation was not found. This mutation would be confined to a few families of European or Caucasian origin linked to the cases originally described. Conclusions: The A53T mutation would not be the primary causal factor of PD in the evaluated cases

Keywords : Parkinson’s disease; genetics; SNCA.

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