Highlights
- •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.
Keywords
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References
- 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
Article info
Publication history
Published online: July 12, 2019
Accepted:
July 11,
2019
Received in revised form:
June 13,
2019
Received:
April 5,
2019
Identification
Copyright
© 2019 Elsevier B.V. All rights reserved.
