Publications by authors named "Athina-Maria Simitsi"
Parkinson's disease (PD) is considered to be the second most prominent neurodegenerative disease and has a global prevalence. Glucocerebrosidase () gene mutations represent a significant hereditary risk factor for the development of PD and have a profound impact on the motor and cognitive progression of the disease. The aim of this review is to summarize the literature data on the prevalence, type, and peculiarities of mutations in populations of different ethnic backgrounds.
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- 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.
Introduction: Parkinson's disease (PD) patients harboring recessive gene variants exhibit a distinct clinical phenotype with an early disease onset and relatively mild symptoms. Data concerning individualized therapy for autosomal recessive PD forms are still scarce.
Methods: Demographic and treatment data of a cohort of PD carriers of recessive genes (nine homozygous or compound heterozygous carriers, four heterozygous carriers, and three biallelic carriers) were evaluated.
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.
Introduction: Pathogenic variants in parkin (PRKN gene) are the second most prevalent known monogenic cause of Parkinson's disease (PD). How monoallelic or biallelic pathogenic variants in the PRKN gene may affect its transcription in patient-derived biological material has not been systematically studied.
Methods: PRKN mRNA expression levels were measured with real-time polymerase chain reaction (RT-PCR) in peripheral blood mononuclear cells (PBMCs).
Article Synopsis
- - Impulse Control Disorders (ICDs) like pathological gambling and compulsive eating are significant non-motor symptoms in Parkinson's Disease, with a prevalence around 10% to much higher based on different studies.
- - A two-part study was conducted with 892 Greek PD patients to assess the incidence of ICDs and explore psychological factors such as personality traits and quality of life.
- - Preliminary results show that 12.4% of patients had ICDs and highlight the role of heightened activity and coping mechanisms in developing these disorders, emphasizing compulsivity over impulsivity.
Introduction: There has been a bias in the existing literature on Parkinson's disease (PD) genetics as most studies involved patients of European ancestry, mostly in Europe and North America. Our target was to review published research data on the genetic profile of PD patients of non-European or mixed ancestry.
Methods: We reviewed articles published during the 2000-2023 period, focusing on the genetic status of PD patients of non-European origin (Indian, East and Central Asian, Latin American, sub-Saharan African and Pacific islands).
Background: Some reports suggest that psychotic features may occur in the early stages of Parkinson's disease (PD), but sensitive tools have not been utilized.
Objective: The aim was to evaluate the presence of psychotic symptoms using detailed scales and to assess the association with clinical characteristics.
Methods: Healthy controls and patients within three years of PD onset were recruited.
Article Synopsis
- Previous research indicates a connection between malignant melanoma (MM) and Parkinson's disease (PD), suggesting shared molecular mechanisms could underlie this link.
- The study examined the prevalence of MM among 1,416 PD patients, 275 healthy controls, and 670 asymptomatic carriers of PD-related genes, focusing on those with a medical history of MM.
- Findings revealed 46 PD patients with a history of MM, with genetic mutations in the LRRK2 and GBA genes present in some cases, but no correlation was found between these mutations and MM development in symptomatic or asymptomatic individuals.
Article Synopsis
- The study looked at how patients with early Parkinson's disease (PD) tend to jump to conclusions and how that relates to other symptoms they might have.
- It found that more PD patients (32%) showed this jumping to conclusions compared to healthy individuals (9%).
- The researchers think that impulsive behaviors might be linked to the way these patients think, but they need to do more research to understand how everything connects.
Background: The role of blood uric acid as a biomarker in symptomatic motor PD has been increasingly established in the literature.
Objective: Our present study assessed the role of serum uric acid as a putative biomarker in a prodromal PD cohort [REM Sleep Behavior disorder (RBD) and Hyposmia] followed longitudinally.
Methods: Longitudinal 5-year serum uric acid measurement data of 39 RBD patients and 26 Hyposmia patients with an abnormal DATSCAN imaging were downloaded from the Parkinson's Progression Markers Initiative database.
Article Synopsis
- The systematic review investigated the impact of environmental factors on the progression of Parkinson's Disease (PD), analyzing data from eight relevant studies.
- Long-term exposure to fine particulate matter (PM) was linked to higher disease severity in some patients, while both long and short-term PM exposure were found to correlate with PD aggravation across multiple studies.
- Certain factors, such as air pollutants and temperature changes, show potential associations with PD progression, though more research is needed to solidify these findings.
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.
Background: Age at onset is one of the most critical factors contributing to the clinical heterogeneity of Parkinson's disease (PD), and available evidence is rather conflicting.
Objective: The aim of this study is to investigate the clinical differences between early-onset PD (EOPD) and mid-and-late-onset PD (MLOPD) in the Greek population, based on the existing data of the Hellenic Biobank of PD (HBPD).
Methods: HBPD contains information of PD cases from two centers in Greece during 2006-2017.
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.
We assessed non motor characteristics of 12 asymptomatic p.A53T mutation carriers (A53T-AC) compared with 36 healthy controls (HC) enrolled in the Parkinson's Progression Markers Initiative (PPMI) study. Olfaction score was lower and anxiety was marginally more prevalent in A53T- AC.
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- 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.
Purpose Of Review: To evaluate whether CSF and circulating neurofilament light chain (NfL), a marker of axonal damage, could discriminate Parkinson disease (PD) from atypical parkinsonian syndromes (APSs).
Recent Findings: MEDLINE and Scopus were systematically searched, and 15 studies were included (1,035 patients with PD and 930 patients with APS). CSF NfL levels were 1.
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.*
Background: Previous studies have highlighted serum uric acid as a putative idiopathic Parkinson's disease (iPD) biomarker. Only one study, so far, showed higher levels of serum uric acid in leucine-rich repeat kinase 2 (LRRK + 2) carriers compared to those who developed PD, however a longitudinal comparison between LRRK2 + PD and healthy controls (HC) has not been performed.
Objective: The aim of this study was to determine whether there are longitudinal differences in serum uric acid between iPD, LRRK2 + PD and HC and their association with motor and non-motor features.
Background: The SNCA gene encoding α-synuclein (αSyn) is the first gene identified to cause autosomal-dominant Parkinson's disease (PD).
Objective: We report the identification of a novel heterozygous A30G mutation of the SNCA gene in familial PD and describe clinical features of affected patients, genetic findings, and functional consequences.
Methods: Whole exome sequencing was performed in the discovery family proband.
Introduction: Blood uric acid represents an important biomarker in sporadic Parkinson's disease (PD). Whether uric acid levels change in genetic forms of PD is beginning to be assessed. The aim of the present study was to evaluate differences in serum uric acid level among PD patients harboring mutations in the glucocerebrosidase (GBA1) gene, sporadic PD, and healthy controls followed longitudinally.
View Article and Find Full Text PDFStudy Objectives: Τo assess whether REM Sleep Behavior Disorder (RBD) and other sleep abnormalities occur in carriers of the p.A53T alpha-synuclein gene (SNCA) mutation, using both subjective and objective measures.
Methods: We have assessed 15 p.