DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB

Radha Procopio; Monica Gagliardi; Marco D'Amelio; Laura Brighina; Giuseppe Nicoletti; Maurizio Morelli; Giuseppe Bonapace; Aldo Quattrone; Grazia Annesi

doi:10.1016/j.neurobiolaging.2020.04.006

DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB

Neurobiol Aging. 2020 Sep:93:143.e5-143.e7. doi: 10.1016/j.neurobiolaging.2020.04.006. Epub 2020 Apr 15.

Authors

Radha Procopio¹, Monica Gagliardi², Marco D'Amelio³, Laura Brighina⁴, Giuseppe Nicoletti⁵, Maurizio Morelli⁶, Giuseppe Bonapace⁷, Aldo Quattrone⁸, Grazia Annesi⁵

Affiliations

¹ Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy; Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Graecia, Catanzaro, Italy.
² Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy. Electronic address: monicg_2002@yahoo.it.
³ Department of Experimental Biomedicine and Clinical Neuroscience (BioNeC), University of Palermo, Palermo, Italy.
⁴ Department of Neurology, Milan Center for Neuroscience, San Gerardo Hospital, University of Milano-Bicocca, Monza, Italy.
⁵ Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy.
⁶ Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Graecia, Catanzaro, Italy.
⁷ University Magna Graecia, Faculty of Medicine, Pediatrics, Italy.
⁸ Neuroscience Center, University Magna Graecia, Catanzaro, Italy.

PMID: 32402491
DOI: 10.1016/j.neurobiolaging.2020.04.006

Abstract

DCTN1 encodes the largest subunit of dynactin complex essential in the retrograde axonal transport and cytoplasmic transport of vesicles; mutations in DCTN1 have been reported predominantly in individuals with Perry syndrome and, recently, in patients with progressive supranuclear palsy. Our genetic screening of DCTN1 in 79 patients with progressive supranuclear palsy, 100 patients with multiple system atrophy, and 28 patients with dementia with Lewy bodies from Italy revealed only synonymous and intronic variants, suggesting that DCTN1 mutations do not have a key role in the development of atypical parkinsonism in the Italian population.

Keywords: DCTN1; Dementia with Lewy bodies; Dynactin; Multiple system atrophy; Progressive supranuclear palsy.

MeSH terms

Aged
DNA Mutational Analysis*
Dynactin Complex / genetics*
Female
Genetic Association Studies*
Genetic Testing*
Humans
Italy
Lewy Body Disease / genetics*
Male
Middle Aged
Multiple System Atrophy / genetics*
Negative Results*
Parkinson Disease* / genetics
Supranuclear Palsy, Progressive / genetics*

Substances

DCTN1 protein, human
Dynactin Complex