Frequency of FGF14 intronic GAA repeat expansion in patients with multiple system atrophy and undiagnosed ataxia in the Japanese population
Sign Up to like & getrecommendations! Published in 2024 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-024-01743-3
Abstract: Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic nervous system dysfunction and cerebellar ataxia or parkinsonism. Recently, expanded GAA repeats (≥250 repeat units) in intron 1 of FGF14 have been shown to… read more here.
Keywords: repeat; system; gaa repeats; expanded gaa ... See more keywords