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Heterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype: A case report.
Imarisio, Alberto; Pilotto, Andrea; Lupini, Alessandro; Biasiotto, Giorgio; Zanella, Isabella; Currò, Riccardo; Vegezzi, Elisa; Cortese, Andrea; Palmieri, Ilaria; Valente, Enza Maria; Padovani, Alessandro.
Afiliação
  • Imarisio A; Department of Molecular Medicine, University of Pavia, Pavia, Italy; IRCCS Mondino Foundation, Pavia, Italy. Electronic address: alberto.imarisio01@universitadipavia.it.
  • Pilotto A; 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.
  • Lupini A; 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.
  • Biasiotto G; Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy; Highly Specialized Laboratory, ASST Spedali Civili di Brescia, Brescia, Italy.
  • Zanella I; 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.
  • Currò R; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy.
  • Vegezzi E; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy; IRCCS Mondino Foundation, Pavia, Italy.
  • Cortese A; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy.
  • Palmieri I; Department of Molecular Medicine, University of Pavia, Pavia, Italy; IRCCS Mondino Foundation, Pavia, Italy.
  • Valente EM; Department of Molecular Medicine, University of Pavia, Pavia, Italy; IRCCS Mondino Foundation, Pavia, Italy.
  • Padovani A; 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.
Parkinsonism Relat Disord ; 123: 106943, 2024 Jun.
Article em En | MEDLINE | ID: mdl-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.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Atrofia de Múltiplos Sistemas Limite: Aged / Humans / Male Idioma: En Ano de publicação: 2024 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Atrofia de Múltiplos Sistemas Limite: Aged / Humans / Male Idioma: En Ano de publicação: 2024 Tipo de documento: Article