Trinucleotide repeat expansions, notably CAG repeats translated into toxic polyglutamine-containing proteins, are the leading cause of spinocerebellar ataxia (SCA). New work points to a GGC repeat expansion that encodes a polyglycine-containing protein as a cause of SCA4, highlighting polyglycine disorders as an emerging human genetic disease class.
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Charlet-Berguerand, N. An unexpected polyglycine route to spinocerebellar ataxia. Nat Genet 56, 1039–1041 (2024). https://doi.org/10.1038/s41588-024-01770-2
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DOI: https://doi.org/10.1038/s41588-024-01770-2
