The very recent discovery of intronic GAA monoallelic repeat expansions in the FGF14 (fibroblast growth factor 14) gene,1, 2 as well as the previously described biallelic repeat expansions in the RFC1 (replication factor C subunit 1) gene,3, 4 causing cerebellar ataxia, neuropathy, vestibular areflexia syndrome, have greatly enhanced the diagnostic yield in ataxia, which was previously limited to <50% even with exome sequencing.
Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family
Monogenic Network
The Monogenic Network is comprised of the Sample Prioritization, Data Analysis, and Portal Development working groups, and studies patients and families with a mutation in a single gene causing Parkinson’s disease.
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