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

Affiliations

• ¹ Department of Molecular Medicine, University of Pavia, Pavia, Italy; IRCCS Mondino Foundation, Pavia, Italy. Electronic address: [email protected].
• ² 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.
• ³ 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.
• ⁴ Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy; Highly Specialized Laboratory, ASST Spedali Civili di Brescia, Brescia, Italy.
• ⁵ 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.
• ⁶ Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy.
• ⁷ Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy; IRCCS Mondino Foundation, Pavia, Italy.
• ⁸ Department of Molecular Medicine, University of Pavia, Pavia, Italy; IRCCS Mondino Foundation, Pavia, Italy.