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Article

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

Parkinsonism & related disorders - 1 Jun 2024

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

Abstract excerpt

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.

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Identifiers

PMID: 38555792
DOI: 10.1016/j.parkreldis.2024.106943

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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