%0 Case Reports
%T Heterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype: A case report.
%A Imarisio A
%A Pilotto A
%A Lupini A
%A Biasiotto G
%A Zanella I
%A Currò R
%A Vegezzi E
%A Cortese A
%A Palmieri I
%A Valente EM
%A Padovani A
%J Parkinsonism Relat Disord
%V 123
%N 0
%D 2024 Jun 20
%M 38555792
%F 4.402
%R 10.1016/j.parkreldis.2024.106943
%X 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.