New study reveals hidden genetic anomaly behind common late-onset cerebellar ataxia umiamimedicine nejm
The paper,"Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia," is published online on December 14 in the. These findings could lead to new diagnostics and therapeutics for patients suffering from late-onset"This form of ataxia strikes people relatively late in life, and there are virtually no treatments," said Stephan Züchner, M.D., Ph.D., co-director of the John P.
In the study, the teams in Miami and in Montreal sequenced complete genomes from French Canadian, German, Australian and Indian families, applying a new, advanced computer algorithm to identify repeat expansions. Matt Danzi, Ph.D., associate scientist in Dr. Züchner's lab and co-primary author on the paper, spotted the crucial abnormalities in patient genomes. Co-primary author David Pellerin, M.D.
"As best we can tell, these repetitive expansions just make it difficult for the gene to be expressed at," said Dr. Danzi."The affected DNA and RNA gets much larger than usual and interferes with normal RNA processing. Cells end up with a lot less of the protein than they need."
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