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

Alberto Imarisio, Andrea Pilotto, Alessandro Lupini, Giorgio Biasiotto, Isabella Zanella, Riccardo Currò, Elisa Vegezzi, Andrea Cortese, Ilaria Palmieri, Enza Maria Valente, Alessandro Padovani

Parkinsonism & related disorders 2024 Jun


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    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. Copyright © 2024 Elsevier Ltd. All rights reserved.

    Citation

    Alberto Imarisio, Andrea Pilotto, Alessandro Lupini, Giorgio Biasiotto, Isabella Zanella, Riccardo Currò, Elisa Vegezzi, Andrea Cortese, Ilaria Palmieri, Enza Maria Valente, Alessandro Padovani. Heterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype: A case report. Parkinsonism & related disorders. 2024 Jun;123:106943

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    PMID: 38555792

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