Dataset Information

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

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.

SUBMITTER: Pu JL

PROVIDER: S-EPMC7783409 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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Publications

Parkinson's Disease in Teneurin Transmembrane Protein 4 (<i>TENM4</i>) Mutation Carriers.

Pu Jia-Li JL Gao Ting T Si Xiao-Li XL Zheng Ran R Jin Chong-Yao CY Ruan Yang Y Fang Yi Y Chen Ying Y Song Zhe Z Yin Xin-Zhen XZ Yan Ya-Ping YP Tian Jun J Zhang Bao-Rong BR

Frontiers in genetics 20201222

<h4>Introduction</h4>Mutations in the teneurin transmembrane protein 4 (<i>TENM4</i>) 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 ...[more]

PMID: 33414808

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