Parkinson’s Disease in Teneurin Transmembrane Protein 4 (TENM4) Mutation Carriers

Pu, Jia-Li and Gao, Ting and Si, Xiao-Li and Zheng, Ran and Jin, Chong-Yao and Ruan, Yang and Fang, Yi and Chen, Ying and Song, Zhe and Yin, Xin-Zhen and Yan, Ya-Ping and Tian, Jun and Zhang, Bao-Rong (2020) Parkinson’s Disease in Teneurin Transmembrane Protein 4 (TENM4) Mutation Carriers. Frontiers in Genetics, 11. ISSN 1664-8021

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Abstract

Introduction: Mutations in the teneurin transmembrane protein 4 (TENM4) gene, known to be involved in neuropsychiatric disorders, have been identified in three pedigree of essential tremor (ET) from Spain. ET has overlapping clinical manifestations and epidemiological symptoms with Parkinson’s disease (PD), suggesting these two disorders may reflect common genetic risk factors. In this study, we investigated clinical and genetic manifestations in four unrelated pedigrees with both ET and PD in which TENM4 variants were identified.

Methods: We subsequently explored whether TENM4 variants contributed to the risk of developing PD. The frequency of TENM4 variants was evaluated from four PD pedigrees and other 407 subjects.

Results: The results revealed 12 different novel heterozygous variants, all at low frequency. A clear general enrichment of TENM4 variants was detected in early onset PD patients (p < 0.001, OR = 5.264, 95% CI = 1.957–14.158).

Conclusion: The results indicate that rare TENM4 variants may be associated with an increased risk of PD.

Item Type: Article
Subjects: Archive Digital > Medical Science
Depositing User: Unnamed user with email support@archivedigit.com
Date Deposited: 30 Jan 2023 11:25
Last Modified: 26 Dec 2023 08:13
URI: http://eprints.ditdo.in/id/eprint/78

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