Publications by authors named "Julia Shirvan"
Alpha-synuclein (αS) aggregation is a widely regarded hallmark of Parkinson's disease (PD) and can be detected through synuclein amplification assays (SAA). This study investigated the association between cerebrospinal fluid (CSF) radiological measures in 41 PD patients (14 iPD, 14 GBA1-PD, 13 LRRK2-PD) and 14 age-and-sex-matched healthy controls. Quantitative measures including striatal binding ratios (SBR), whole-brain and deep gray matter volumes, neuromelanin-MRI (NM-MRI), functional connectivity (FC), and white matter (WM) diffusion-tensor imaging (DTI) were calculated.
View Article and Find Full Text PDFBackground: Mild cognitive impairment (MCI) is common in Parkinson's disease (PD). We aimed to assess the incidence of MCI among patients with PD, carriers of mutations in LRRK2 and GBA1 genes, based on the movement disorder society (MDS) criteria for the diagnosis of MCI in early-stage PD.
Methods: Patients with PD were included if they scored ≤2 on the Hoehn and Yahr and ≤6 years since motor symptom onset.
Background: Real-world monitoring using wearable sensors has enormous potential for assessing disease severity and symptoms among persons with Parkinson's disease (PD). Many distinct features can be extracted, reflecting multiple mobility domains. However, it is unclear which digital measures are related to PD severity and are sensitive to disease progression.
View Article and Find Full Text PDFThe Influence of GBA and LRRK2 on Mood Disorders in Parkinson's Disease.
Mov Disord Clin Pract
April 2023
Background: Mood disorders have emerged as major non-motor comorbidities in Parkinson's disease (PD) even at the prodromal stage of the disease. Mutations in the and genes are common among Ashkenazi Jews, with more severe phenotype reported for -PD.
Objective: To explore the association between genetic status and mood related disorders before and after diagnosis of PD and the association between mood-related medications, phenotype, and genetic status.
Prevalence of ten LRRK2 variants in Parkinson's disease: A comprehensive review.
Parkinsonism Relat Disord
May 2022
Introduction: Variants in the leucine-rich repeat kinase 2 gene (LRRK2) are risk factors for Parkinson's disease (PD), but their prevalence varies geographically, reflecting the locations of founder events and dispersion of founders' descendants.
Methods: A comprehensive literature review was conducted to identify studies providing prevalence estimates for any of ten variants in LRRK2 (G2019S, R1441C, R1441G, R1441H, I2020T, N1437H, Y1699C, S1761R, G2385R, R1628P) among individuals with PD globally. We calculated crude country-specific variant prevalence estimates and, when possible, adjusted estimates for ethno-racial composition.
Article Synopsis
- Protein-coding variants in the GBA gene are linked to about 10% of Parkinson's disease patients, affecting their susceptibility and disease progression by impacting glucosylceramide levels.
- A study measured levels of various sphingolipids in cerebrospinal fluid from Parkinson's patients and healthy controls, finding that those with GBA mutations had higher glucosylceramide and lower sphingomyelin levels compared to healthy individuals.
- The ratio of glucosylceramide to sphingomyelin (GlcCer/SM) may serve as a useful biomarker for monitoring disease progression and stratifying idiopathic Parkinson's disease patients in clinical trials.
Background: Mutations in the GBA gene, which encodes the lysosomal enzyme glucocerebrosidase (GCase), are risk factors for Parkinson's disease (PD).
Objective: To explore the association between GCase activity, PD phenotype, and probability for prodromal PD among carriers of mutations in the GBA and LRRK2 genes.
Methods: Participants were genotyped for the G2019S-LRRK2 and nine GBA mutations common in Ashkenazi Jews.
Article Synopsis
- * Researchers compared the effectiveness of a digital clock-drawing test with standard cognitive assessments in 75 PD patients and 59 healthy controls, finding that the digital test was the most sensitive indicator of cognitive decline.
- * The results revealed varying cognitive profiles based on genetic subtypes of PD, suggesting that digital assessments could enhance clinical management and inform cognitive-focused clinical trials.
Article Synopsis
- Inflammation plays a key role in neurodegeneration, particularly in Parkinson's disease (PD), especially among Ashkenazi Jews with high genetic PD prevalence.
- The study aimed to analyze the levels of specific cytokines in PD patients with LRRK2 and GBA gene mutations, as well as non-manifesting carriers, to understand the inflammatory component of genetic PD.
- Findings revealed no significant differences in cytokine levels among the various groups measured, suggesting that an abnormal immune response might not be present in GBA and LRRK2 PD patients or their non-manifesting carriers.
Background: It is not clear how specific gait measures reflect disease severity across the disease spectrum in Parkinson's disease (PD).
Objective: To identify the gait and mobility measures that are most sensitive and reflective of PD motor stages and determine the optimal sensor location in each disease stage.
Methods: Cross-sectional wearable-sensor records were collected in 332 patients with PD (Hoehn and Yahr scale I-III) and 100 age-matched healthy controls.
Objective: To develop imaging biomarkers of diseases in the Lewy body spectrum and to validate these markers against postmortem neuropathologic findings.
Methods: Four cognitively normal participants with Parkinson disease (PD), 4 with PD with cognitive impairments, and 10 with dementia with Lewy bodies underwent amyloid imaging with [11C]Pittsburgh compound B (PiB) and dopamine transporter (DAT) imaging with [11C]Altropane. All 18 had annual neurologic examinations.