ArticleJournal of genetic counseling2018
Patients' Opinions on Genetic Counseling on the Increased Risk of Parkinson Disease among Gaucher Disease Carriers.
Article in Journal of genetic counseling, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed, 22 citations in OpenAlex.
- The close relationship between a rare disease and a common disease: Case report of a patient with gaucher disease and parkinsonism.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Unifying the Communities of Early-Onset Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease Through a Genetic Prevalence Study ofJIMD reports · 2026Article
- Laboratory and clinical genetic Counselor's perspectives on the reporting of personal health risks on carrier screening reports.Journal of genetic counseling · 2025Article
- Preimplantation Genetic Testing (PGT) to Reduce the Risk for GBA-Related Parkinson's Disease: Expanding the Applications for Embryo Selection.International journal of molecular sciences · 2025Article
- Consensus Guidance for Genetic Counseling in GBA1 Variants: A Focus on Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2024Review
- Women with Gaucher Disease.Biomedicines · 2024Review
- Genetic Testing in Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2023Article
- An exploration of knowledge, risk perceptions, and communication in a family with multiple genetic risks for Parkinson's disease.Journal of genetic counseling · 2023Article
- Genome Sequencing in the Parkinson Disease Clinic.Neurology. Genetics · 2022Article
- A cross-sectional survey of genetic counselors providing carrier screening regarding GBA variants and Parkinson disease susceptibility.Journal of assisted reproduction and genetics · 2022Article
- Parkinson's disease in Gaucher disease patients: what's changing in the counseling and management of patients and their relatives?Orphanet journal of rare diseases · 2020Article
- Article
- Evaluation of the frequency of non-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1.Orphanet journal of rare diseases · 2019Article
- GBA-Associated Parkinson's Disease and Other Synucleinopathies.Current neurology and neuroscience reports · 2018Review
- Genetics of Movement Disorders and the Practicing Clinician; Who and What to Test for?Current neurology and neuroscience reports · 2018Review
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Gaucher disease (GD) is an autosomal recessive disease caused by GBA mutations that is especially common in the Ashkenazi Jewish (AJ) population. The link between GBA mutations and Parkinson disease (PD), a later-onset neurodegenerative condition, is well established, and studies have shown that GBA carriers have an increased lifetime risk of developing PD. Carrier screening for GD is frequently offered to couples during or prior to pregnancy, especially to those of AJ descent. However, no studies have been performed to assess if prospective parents would want to learn about their risk of developing PD incidentally through carrier screening. It is also unknown if pre-test counseling on this topic would affect screening uptake. In order to answer these questions, a survey was administered to individuals who screened negative for GBA mutations. Of the 75 participants, 86.7% believed that patients should be informed about the increased risk of PD prior to having GD carrier screening, and 93.3% responded that this information would not have changed their decision to have carrier screening. These results indicate that healthcare providers should take into consideration patient preferences when determining how to counsel about GD carrier screening. Additionally, these results have implications for genetic counseling about other later-onset conditions that may be incidentally ascertained through carrier screening.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.