Journal Article

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

Jun-ying, Li, Li-ren, Duan, Peng Rong, Jia-xin, Peng, Nan-nan, Li, Wang, Ling, Chao-lan, Chen

2021

Overview

BackgroundPINK1 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.MethodsWhole 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.ResultsWhole 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.ConclusionOur findings further demonstrated the safety of levodopa with dopa-decarboxylase treatment in PINK1-associated juvenile PD during pregnancy.

• Publisher: Springer Nature B.V
• Subject: Age / Levodopa / Movement disorders / Mutation / Neurodegenerative diseases / Neurological diseases / Neurology / Nonsense mutation / Parkinson's disease / Phenotypes / Pregnancy / PTEN-induced putative kinase