Genetic Analysis Finds Common Mutation in Rare Neurological Diseases (IMAGE)

University of Tokyo

Genetic Analysis Finds Common Mutation in Rare Neurological Diseases

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A research team in Japan analyzed the genomes of patients with similar symptoms of adult-onset neurodegeneration, but no genetic diagnosis for their diseases. The researchers discovered that the same mutation -- CGG noncoding expanded tandem repeats -- in different areas of the genome causes four rare diseases.

DOI: 10.1038/s41588-019-0458-z

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