HIGHLIGHTS
- who: RFC, and -related ataxia, is a from the (UNIVERSITY) have published the paper: RFC1 - related ataxia is a mimic of early multiple system atrophy, in the Journal: (JOURNAL)
SUMMARY
The authors present three cases with biallelic RFC1 expansions: two clinically diagnosed with ‘probable' MSA and one with ‘probable' based on the SCDC for MSA. The authors enrolled 207 patients with ‘possible' and ‘probable' MSA, from the National Hospital for Neurology and Neurosurgery (NHNN). Southern blotting revealed two large expansions, sized at 9434 kb (887 repeat units) and 12 477 kb (1495 repeat . . .
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