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Asymptomatic carriers of the p.A53T SNCA mutation: Data from the PPMI study

Athina Maria Simitsi1, Christos Koros1, Maria Stamelou2

  • 11st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.

Parkinsonism & Related Disorders
|May 1, 2022
PubMed

Keywords:
Alpha-synucleinAsymptomatic carriersNon-motor symptomsParkinson's disease

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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