- •Parkinson’s disease (PD) is the second most common neurodegenerative disorder.
- •Recently, Deng et al. identified a new gene (TMEM230) in a large Canadian Mennonite family with PD.
- •We evaluate the presence of TMEM230 mutations in a cohort of 168 familial PD and 500 control subjects from South Italy.
- •We found a rare missense variant (p.Ile125Met) in a 64-years old woman and four synonymous variant in our population.
- •Other studies are needed to clarify the role of the TMEM230 gene in the pathogenesis of Parkinson’s disease.
To read this article in full you will need to make a payment
Purchase one-time access:Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
One-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:Subscribe to Journal of the Neurological Sciences
Already a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
- DNAJC13 mutations in Parkinson disease.Hum. Mol. Genet. 2014 Apr 1; 23: 1794-1801
- Identification of TMEM230 mutations in familial Parkinson’s disease.Nat. Genet. 2016 Jul; 48: 733-739
- The role of TMEM230 gene in Parkinson’s disease.J. Park. Dis. 2018; 8: 469-477
- TMEM230 in Parkinson’s disease in a southern Spanish population.PLoS One. 2018 May 17; 13e0197271
- DNAJC13 mutation screening in patients with Parkinson’s disease from South Italy.Parkinsonism Relat. Disord. 2018 Oct; 55: 134-137
Published online: July 12, 2019
Accepted: July 11, 2019
Received in revised form: June 13, 2019
Received: April 5, 2019
© 2019 Elsevier B.V. All rights reserved.