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SNCA mutations cause autosomal dominant parkinsonism and inform our understanding of the molecular underpinnings of synucleinopathies. The most recently identified mutation, p.Ala53Glu (A53E), has only been observed in Finland. The… Click to show full abstract
SNCA mutations cause autosomal dominant parkinsonism and inform our understanding of the molecular underpinnings of synucleinopathies. The most recently identified mutation, p.Ala53Glu (A53E), has only been observed in Finland. The objectives of this study were to examine clinical, genetic, epigenetic, and biochemical features of the first family outside Finland with A53E.
Keywords:
clinical genetic;
epigenetic biochemical;
biochemical features;
genetic epigenetic;
mutation
Journal Title: Movement Disorders
Year Published: 2018
Link to full text (if available)
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Journal Title: Movement Disorders
Year Published: 2018
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!