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

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

Journal: Parkinsonism & related disorders 2024;123():106943

PMID: 38555792

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.

Copyright © 2024 Elsevier Ltd. All rights reserved.

Address: Department of Molecular Medicine, University of Pavia, Pavia, Italy; IRCCS Mondino Foundation, Pavia, Italy. Electronic address: [email protected].; Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy; Neurology Unit, Department of Continuity of Care and Frailty, ASST Spedali Civili Brescia University Hospital, Italy; Laboratory of Digital Neurology and Biosensors, University of Brescia, Italy.; Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy; Neurology Unit, Department of Continuity of Care and Frailty, ASST Spedali Civili Brescia University Hospital, Italy.; Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy; Highly Specialized Laboratory, ASST Spedali Civili di Brescia, Brescia, Italy.; Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy; Cytogenetics and Molecular Genetics Laboratory, Diagnostic Department, ASST Spedali Civili di Brescia, Brescia, Italy.; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy.; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy; IRCCS Mondino Foundation, Pavia, Italy.; Department of Molecular Medicine, University of Pavia, Pavia, Italy; IRCCS Mondino Foundation, Pavia, Italy.
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