Multiple system atrophy and C9orf72 hexanucleotide repeat expansions in a cohort of Italian patients

Giuseppe Bonapace; Monica Gagliardi; Radha Procopio; Maurizio Morelli; Andrea Quattrone; Laura Brighina; Aldo Quattrone; Grazia Annesi

doi:10.1016/j.neurobiolaging.2021.12.003

Multiple system atrophy and C9orf72 hexanucleotide repeat expansions in a cohort of Italian patients

Neurobiol Aging. 2022 Apr:112:12-15. doi: 10.1016/j.neurobiolaging.2021.12.003. Epub 2021 Dec 20.

Authors

Giuseppe Bonapace¹, Monica Gagliardi², Radha Procopio³, Maurizio Morelli⁴, Andrea Quattrone⁴, Laura Brighina⁵, Aldo Quattrone⁶, Grazia Annesi²

Affiliations

¹ University Magna Graecia, Faculty of Medicine, Pediatrics. Electronic address: bonapace@unicz.it.
² Institute for Biomedical Research and Innovation, National Research Council, Cosenza, Italy.
³ Institute of Neurology, Department of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, Italy; National Research Council, Section of Germaneto, Institute of Molecular Bioimaging and Physiology, Catanzaro, Italy.
⁴ Institute of Neurology, Department of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, Italy.
⁵ Department of Neurology, Milan Center for Neuroscience, San Gerardo Hospital, University of Milano-Bicocca, Monza, Italy.
⁶ Neuroscience centre, Magna Graecia University, Catanzaro, Italy.

PMID: 35007998
DOI: 10.1016/j.neurobiolaging.2021.12.003

Abstract

Exanucleotide expansions in C9orf72 gene have been described as potential risk factor in some patients with Multiple system atrophy (MSA) and other forms of atypical parkinsonism. The goal of our study was to extend the knowledge on the involvement of C9orf72 in MSA studying a cohort of 100 patients from Italy. We identified 2 heterozygous patients in the pathological range (> 30 repeats) and 4 heterozygous patients for expansions in the premutation range (20 -30 repeats). Our findings strengthen the previously hypothesized role for this gene as a risk factor for MSA and raise the possibility of a more complex and still unknown involvement of this gene in the heterogeneity of MSA.

Keywords: Atypical parkinsonism; C9orf72; Exanucleotide expansion; Multiple System Atrophy.

MeSH terms

Amyotrophic Lateral Sclerosis* / genetics
C9orf72 Protein* / genetics
Cohort Studies
DNA Repeat Expansion / genetics
Humans
Multiple System Atrophy* / genetics
Proteins / genetics

Substances

C9orf72 Protein
C9orf72 protein, human
Proteins