{Reference Type}: Case Reports
{Title}: Heterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype: A case report.
{Author}: Imarisio A;Pilotto A;Lupini A;Biasiotto G;Zanella I;Currò R;Vegezzi E;Cortese A;Palmieri I;Valente EM;Padovani A;
{Journal}: Parkinsonism Relat Disord
{Volume}: 123
{Issue}: 0
{Year}: 2024 Jun 20
{Factor}: 4.402
{DOI}: 10.1016/j.parkreldis.2024.106943
{Abstract}: 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.