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The biallelic repeat expansion (AAGGG)exp in the replication factor C subunit 1 gene (RFC1) is a frequent cause of cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) as well as… Click to show full abstract
The biallelic repeat expansion (AAGGG)exp in the replication factor C subunit 1 gene (RFC1) is a frequent cause of cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) as well as late‐onset ataxia. The clinical spectrum of RFC1 disease has expanded since the first identification of biallelic (AAGGG)exp and includes now various nonclassical phenotypes. Biallelic (AAGGG)exp in RFC1 in patients with clinically confirmed Parkinson's disease (PD) has recently been found.
Keywords:
rfc1;
association biallelic;
disease;
parkinson disease;
aaggg exp;
expansion
Journal Title: European Journal of Neurology
Year Published: 2023
Link to full text (if available)
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Journal Title: European Journal of Neurology
Year Published: 2023
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!