Journal
NEUROSCIENCE LETTERS
Volume 634, Issue -, Pages 104-106Publisher
ELSEVIER IRELAND LTD
DOI: 10.1016/j.neulet.2016.10.005
Keywords
Essential tremor; Parkinson disease; CHCHD2; Chinese population
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Funding
- National Science Foundation of China [81571089]
- Natural Science Foundation of Zhejiang [LY12H09006]
- National Science and Technology support project [2012BAI10B00]
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Recently, Funayama et al. identified CHCHD2 as a novel causative gene of Parkinson disease (PD). However, the relationship between CHCHD2 and essential tremor (ET) patients was still unknown. Genetic analysis of CHCHD2 gene was conducted in 60 probands of ET families with autosomal dominant inheritance and 90 healthy controls in Chinese population. No pathogenic CHCHD2 mutation was found in ET patients. However, we identified one rare variant, c.5C >T, a reported risk variant for sporadic PD in Japanese populations, and examined the frequency of three common variants. Our results suggested that CHCHD2 mutations may be rare in Chinese familial ET patients. (C) 2016 Elsevier Ireland Ltd. All rights reserved.
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