Alessandro Lupini, Elisa Vegezzi, Enza Maria Valente, Andrea Cortese, Isabella Zanella, Giorgio Biasiotto, Alessandro Padovani, Andrea Pilotto, Ilaria Palmieri, Alberto Imarisio, Riccardo Currò
Journal: Parkinsonism & related disorders 2024;123():106943
PMID: 38555792
We describe here a 73-year-old patient presenting with atypical MSA-P-like phenotype carrying a monoallelic p. W279X mutation in the APTX gene, which causes ataxia with oculomotor apraxia type 1 (AOA1) when in homozygous state. We hypothesize that rare monoallelic APTX variants could modulate MSA risk and phenotype.
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