: 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.
Heterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype: A case report
Imarisio, Alberto
;Pilotto, Andrea;Lupini, Alessandro;Biasiotto, Giorgio;Zanella, Isabella;Valente, Enza Maria;Padovani, Alessandro
2024-01-01
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.File in questo prodotto:
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