Publications by authors named "Angela B Deutschlander"
Article Synopsis
- The study explores how copy number variations (CNVs) affect the development of Parkinson's disease (PD), aiming to identify new genetic mechanisms linked to sporadic cases of the disease.
- Utilizing data from over 11,000 PD patients and nearly 9,000 controls, the researchers discovered 14 significant CNV loci associated with PD, including various gene duplications and deletions.
- The research highlights a higher prevalence of CNVs in specific PD-related genes among patients and suggests that certain CNVs, especially those involving the gene, may lead to earlier onset of the disease in early-onset PD cases.
Article Synopsis
- The study investigates the relationship between body mass index (BMI) and Parkinson's disease (PD) using a method called Mendelian randomization to determine if higher genetically predicted BMI is linked to a lower incidence of PD.
- Researchers analyzed genetic data from large groups of individuals, including over 800,000 for BMI and nearly 29,000 for PD, focusing on factors like age, disease duration, and gender to examine the associations.
- Results indicated an inverse relationship between genetically predicted BMI and PD, particularly among younger participants and women, suggesting that lower BMI may be associated with a higher risk of developing Parkinson's disease.
Article Synopsis
- Epidemiological studies have shown mixed results regarding the link between Parkinson's disease (PD) and various cancers, primarily due to methodological challenges.
- This research aimed to explore the genetic correlation between PD and different cancers using data from large genome-wide association studies (GWASs) involving thousands of participants, particularly those of European ancestry.
- Findings revealed a positive genetic correlation between PD and melanoma as well as prostate cancer, while showing inverse associations between PD and ovarian cancer, indicating complex genetic interactions between these diseases.
Article Synopsis
- - This study investigates the genetic factors influencing the age at onset (AAO) of Parkinson's disease (PD), aiming to address the inconsistencies in previous research and validate findings through a meta-analysis of diverse populations.
- - The meta-analysis combined data from the COURAGE-PD Consortium, which included over 8,500 patients primarily of European origin, and the International Parkinson Disease Genomics Consortium, reaching a total of nearly 26,000 participants.
- - The research confirmed a known genetic variant associated with PD AAO and discovered two genome-wide significant signals on chromosome 4, contributing new insights into the genetic basis of the disease's onset.
Article Synopsis
- Two contrasting studies previously examined the link between the HLA-DRB1 gene and smoking concerning Parkinson's disease (PD), leading to varying conclusions.
- This research aimed to replicate those findings by analyzing genetic data from over 12,000 PD cases and nearly 9,500 controls, focusing on specific genetic variants related to smoking.
- The results indicated that a specific variant in the HLA-DRB1 gene (valine at position 11) was significantly associated with PD, revealing an inverse relationship between smoking initiation and PD only in individuals lacking this variant, which invites further investigation into the underlying mechanisms.
Article Synopsis
- Previous studies suggested that dairy intake may increase the risk of Parkinson's disease (PD), especially in men, but the nature of this relationship was unclear.
- This research used genetic data to investigate the link between dairy consumption and PD through a method called Mendelian randomization, involving nearly 10,000 patients and 8,000 controls.
- The results indicated that genetically predicted higher dairy intake is associated with an increased risk of PD, particularly in men, providing evidence for a possible causal relationship.
Article Synopsis
- The study investigates how lifestyle factors like smoking, alcohol, and coffee consumption relate to Parkinson's disease (PD), using a genetic approach to avoid potential biases in causation.* -
- Findings indicate that smoking is significantly associated with a lower risk of developing PD, while no such associations were found for alcohol or coffee consumption, though there is a suggestion that genetic vulnerability to PD might increase alcohol drinking.* -
- The research concludes that the protective effect of smoking on PD is likely genuine and not influenced by reverse causation or other biases; however, the data on alcohol and coffee remains inconclusive due to limited power.*
Objective: To determine whether distinct microtubule-associated protein tau MAPT H1 subhaplotypes are associated with clinical and demographic features in Parkinson's disease.
Methods: A retrospective cohort study included 855 unrelated Caucasian patients with Parkinson's disease who were seen by Movement Disorder specialists at the Mayo Clinic Florida between 1998 and 2016. The primary outcome measures were specific demographic and clinical features of Parkinson's disease, including age at onset, disease progression, survival, motor signs, dementia, dystonia, dyskinesia, autonomic dysfunction, impulse control disorder, psychiatric features, REM sleep behavior disorder, restless legs syndrome, and Parkinson's disease subtype.
Treatment with istradefylline for postural abnormalities in Parkinson's disease.
Neurol Neurochir Pol
September 2019
Introduction: In the current edition, Fujioka and colleagues report on four Japanese patients with Parkinson disease (PD) and severe postural abnormalities treated with istradefylline (adenosine A2A receptor antagonist); further, dopamine agonists were with- drawn. Three patients experienced significant improvements of postural abnormalities.
Clinical Reflections: Postural abnormalities in PD include camptocormia, antecollis, lateral trunk flexion, and scoliosis.
Biomarkers are helpful for early diagnosis, assessment of disorder severity, prognosis, and prediction of response to therapy. Given that early therapeutic intervention may be useful in forestalling or slowing neurodegenerative conditions, employing reliable biomarkers to identify asymptomatic individuals who are destined to develop clinical Parkinson's disease (PD) is critical. Two important observations have been repeatedly found in persons who eventually develop clinical PD: (1) significant neuronal loss occurs in the substantia nigra and (2) the presence of nonmotor symptoms (NMS).
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