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

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

Risultato della ricerca: Article

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.
Lingua originaleEnglish
Numero di pagine3
RivistaNeurobiology of Aging
Stato di pubblicazionePublished - 2020

All Science Journal Classification (ASJC) codes

  • Neuroscience(all)
  • Ageing
  • Clinical Neurology
  • Developmental Biology
  • Geriatrics and Gerontology

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    D'Amelio, M., Morelli, M., Gagliardi, M., Procopio, R., Nicoletti, G., Bonapace, G., Brighina, L., Annesi, G., Quattrone, A., & Gagliardi, M. (2020). DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB. Neurobiology of Aging.