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A compound heterozygous PINK1-associated juvenile Parkinson’s disease with pregnancy in Chinese

Abstract

Background

PINK1 mutations are the second most common cause of recessive, early-onset Parkinson’s disease (EOPD), of which 15% are cases of juvenile PD. PD is a progressive neurological disease that primarily affects middle-aged and older people. Thus PD patients experiencing pregnancy is uncommon, especially in patients with juvenile PD caused by PINK1 mutations. We are first to report a woman from a Chinese family diagnosed with sporadic juvenile PD and treated with levodopa/benserazide throughout pregnancy.

Methods

Whole exome sequencing was performed on this patient, and pedigree verification was performed on her parents. This patient received levodopa/benserazide treatment with regular outpatient follow-up exams.

Results

Whole exome sequencing and Sanger sequencing identified a heterozygous nonsense mutation (c.1474C > T, p.R492X) and a splicing mutation (c.1488 + 1G > A) that were in exon 7 of the PINK1 gene, co-segregating with the PD phenotype and exhibiting an autosomal recessive pattern. With regular outpatient follow-up exams, this patient delivered a healthy boy without complications. Her PD symptoms were stable with the levodopa/benserazide treatment throughout her pregnancy except in the postpartum period.

Conclusion

Our findings further demonstrated the safety of levodopa with dopa-decarboxylase treatment in PINK1-associated juvenile PD during pregnancy.

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Acknowledgements

The authors are thankful to the patient and her families for their participation in the present study. This study was supported by National Natural Science Foundation of China (81801272), Sichuan Science and Technology Program (2018HH0077), and Post-Doctor Research Project, West China Hospital, Sichuan University (2018HXBH085).

Funding

This study was supported by National Natural Science Foundation of China (81801272), Sichuan Science and Technology Program (2018HH0077), and Post-Doctor Research Project, West China Hospital, Sichuan University (2018HXBH085).

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Authors

Contributions

JYL was responsible for drafting and revision of the manuscript and NNL for revision of the manuscript. JYL, LW, JXP, LRD, and CLC were responsible for collecting the data and RP was responsible for concept and revision of the manuscript.

Corresponding author

Correspondence to Rong Peng.

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The authors declare that they have no conflict of interest.

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Li, Jy., Li, Nn., Wang, L. et al. A compound heterozygous PINK1-associated juvenile Parkinson’s disease with pregnancy in Chinese. J Neurol 268, 2223–2227 (2021). https://doi.org/10.1007/s00415-021-10405-z

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Keywords

  • Parkinson’s disease
  • PINK1
  • Compound heterozygous
  • Pregnancy
  • Levodopa/benserazide