A compound heterozygous PINK1-associated juvenile Parkinson’s disease with pregnancy in Chinese
- 25 January 2021
- journal article
- research article
- Published by Springer Science and Business Media LLC in Zeitschrift für Neurologie
- Vol. 268 (6), 2223-2227
- https://doi.org/10.1007/s00415-021-10405-z
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.Funding Information
- National Natural Science Foundation of China (81801272)
- Sichuan Science and Technology Program (2018HH0077)
- Post-Doctor Research Project, West China Hospital, Sichuan University (2018HXBH085)
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