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Pregnancy in Parkinson's disease with PARK2 mutations
3rd International conference on Parkinson's, Huntington's and Movement Disorders
September 27, 2021 | Webinar
Ali Sazci
Istanbul Okan University, Turkey
Posters & Accepted Abstracts : Cogn Neurosci J
Abstract:
Parkinson’s disease (PD), first described by James Parkinson in 1817, is the second most common neurodegenerative disease, affecting approximately 1% of the population over age 60 worldwide. Generally speaking, Parkinson’s disease is an old-age disease. Therefore, it is uncommon to find literature on pregnancy in PD, with only 53 pregnancies reported until now. PD is more common in men than women with a ratio up to 2:1 reported in the literature. PD is mainly characterized by resting tremor, bradykinesia, rigidity, and gait impairment. It is well-known that antiparkinsonian medications are based on symptomatic relief only, neuroprotective and disease modifying therapies are not available yet. Here we describe a patient diagnosed as Parkinson’s disease at the age of 34 with three silent and two missense mutations in the PARK2 gene (GenBank accession number EF375726). Three silent mutations were identified at bases 429 (C > T), 513 (G > A) and 667 (C > T). Two missense mutations were identified at basses 932 (A > G) and 1111 (G > A), and replaced Gln311 with Arg and Ala371 with Thr respectively. She was diagnosed as pregnant on 2 March 2009. Her neurological evaluation did not reveal any abnormality. Three weeks later, she informed her neurologist that she had miscarriage in the first trimester in 2009. We report a pregnancy in a patient with Parkinson’ disease with PARK2 mutations. In this presentation, we present her Parkinson’s disease first. Subsequently, we discuss the effect of the disease on pregnancy and vice versa, the effect of the disease and its treatment on the fetus. The study was approved by the ethics committee of the Kocaeli University and informed consent was obtained from the patient.
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