Heterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype: A case report

• DOI: 10.1016/j.parkreldis.2024.106943
• Publication Date: 2024-03-20T22:21:08Z
• Authors: Alberto Imarisio; Andrea Pilotto; Alessandro Lupini; Giorgio Biasiotto; Isabella Zanella; Riccardo Currò; Elisa Vegezzi; Andrea Cortese; Ilaria Palmieri; Enza Maria Valente; Alessandro Padovani
• Keywords: Oculomotor apraxia; 610; Multiple system atrophy; Parkinsonism; APTX; Aprataxin; Multiple system atrophy; Oculomotor apraxia; Parkinsonism; APTX; Aprataxin

: 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.