Roy N. Alcalay
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View article: Rare but Relevant? Assessing Variants in Dystonia‐Linked Genes in Parkinson's Disease
Rare but Relevant? Assessing Variants in Dystonia‐Linked Genes in Parkinson's Disease Open
Background Dystonia and Parkinson's disease (PD) exhibit clinical and genetic overlap, but the relevance of dystonia gene variants in PD remains unclear. Objective The aim was to assess the frequency of dystonia‐linked pathogenic variants …
View article: Clinical and imaging characteristics of Parkinson’s disease with negative alpha-synuclein seed amplification assay
Clinical and imaging characteristics of Parkinson’s disease with negative alpha-synuclein seed amplification assay Open
Background The CSF alpha-synuclein (a-syn) seed amplification assay (CSFasynSAA) detects a-syn aggregation in over 90% of individuals with sporadic PD (sPD). However, the clinical characteristics of sPD with negative CSFasynSAA have not be…
View article: Optimizing Parkinson’s Disease progression scales using computational methods
Optimizing Parkinson’s Disease progression scales using computational methods Open
Parkinson’s disease is a highly heterogeneous condition with symptoms spanning motor and non-motor domains. Clinical scales like the Movement Disorder Society’s Unified Parkinson’s Disease Rating Scale (MDS-UPDRS), are standard in clinical…
View article: Cognitive Performance in Early Neuronal Synuclein Disease with Hyposmia but without Motor Disability: Association with Dopamine Deficiency and Isolated Rapid Eye Movement Sleep Behavior Disorder
Cognitive Performance in Early Neuronal Synuclein Disease with Hyposmia but without Motor Disability: Association with Dopamine Deficiency and Isolated Rapid Eye Movement Sleep Behavior Disorder Open
Objective To determine the impact of dopamine deficiency and isolated rapid eye movement (REM) sleep behavior disorder (iRBD) on cognitive performance in early neuronal α‐synuclein disease (NSD) with hyposmia but without motor disability. …
View article: Rare but Relevant: Assessing Variants in Dystonia-linked Genes in Parkinson’s Disease
Rare but Relevant: Assessing Variants in Dystonia-linked Genes in Parkinson’s Disease Open
Background Dystonia and Parkinson’s disease (PD) show clinical and genetic overlap, but the relevance of dystonia gene variants in PD remains unclear. Objective To assess the frequency of dystonia-linked pathogenic variants in PD. Methods …
View article: Parkinson's disease associated with <i>LRRK2</i> -R1441C mutation: Characterization and comparison with other <i>LRRK2</i> mutations
Parkinson's disease associated with <i>LRRK2</i> -R1441C mutation: Characterization and comparison with other <i>LRRK2</i> mutations Open
Mutations in the leucine-rich repeat kinase 2 ( LRRK2 ) gene associate with familial and sporadic Parkinson's disease (PD). While various LRRK2 allelic variants have been studied, characteristics of R1441C carriers remain underexplored. We…
View article: Genetic testing for Parkinson's disease in Israel: Insights from the Rostock Parkinson's Disease (ROPAD) study
Genetic testing for Parkinson's disease in Israel: Insights from the Rostock Parkinson's Disease (ROPAD) study Open
Genetic testing for Israeli PD patients is beneficial, while the yield is primarily attributed to LRRK2 and GBA1 variants.
View article: T cell responses towards PINK1 and α-synuclein are elevated in prodromal Parkinson’s disease
T cell responses towards PINK1 and α-synuclein are elevated in prodromal Parkinson’s disease Open
View article: Differential memory enrichment of cytotoxic CD4 T cells in Parkinson’s disease patients reactive to α-synuclein
Differential memory enrichment of cytotoxic CD4 T cells in Parkinson’s disease patients reactive to α-synuclein Open
Parkinson’s disease (PD) is a complex neurodegenerative disease with a largely unknown etiology. Although the loss of dopaminergic neurons in the substantia nigra pars compacta is the pathological hallmark of PD, neuroinflammation also pla…
View article: Genome-Wide Association Study of Glucocerebrosidase Activity Modifiers
Genome-Wide Association Study of Glucocerebrosidase Activity Modifiers Open
One of the most common genetic risk factors for Parkinson’s disease (PD) is variants in GBA1 , which encodes the lysosomal enzyme glucocerebrosidase (GCase). GCase deficiency has been associated with an increased PD risk, but not all indiv…
View article: Lack of association between<i>G6PD</i>variants and Parkinson’s disease
Lack of association between<i>G6PD</i>variants and Parkinson’s disease Open
Oxidative stress has been implicated in Parkinson’s disease (PD). Genes involved in PD, such as PRKN, PINK1 and PARK7 , contribute to oxidative stress in dopaminergic neurons. The X-linked G6PD gene encodes glucose 6-phosphate dehydrogenas…
View article: Differential memory enrichment of cytotoxic CD4 T cells in Parkinson’s disease patients reactive to α-synuclein
Differential memory enrichment of cytotoxic CD4 T cells in Parkinson’s disease patients reactive to α-synuclein Open
Parkinson’s disease (PD) is a complex neurodegenerative disease with a largely unknown etiology. Although the loss of dopaminergic neurons in the substantia nigra pars compacta is the pathological hallmark of PD, neuroinflammation also pla…
View article: T cell responses towards PINK1 and α-synuclein are elevated in prodromal Parkinson’s disease
T cell responses towards PINK1 and α-synuclein are elevated in prodromal Parkinson’s disease Open
A role of the immune system in Parkinson’s disease (PD) progression has long been suspected due to the increased frequency of activated glial cells and infiltrating T cells into the substantia nigra. It was previously reported that PD dono…
View article: A factor-based analysis of individual human microglia uncovers regulators of an Alzheimer-related transcriptional signature
A factor-based analysis of individual human microglia uncovers regulators of an Alzheimer-related transcriptional signature Open
Human microglial heterogeneity is only beginning to be appreciated at the molecular level. Here, we present a large, single-cell atlas of expression signatures from 441,088 live microglia broadly sampled across a diverse set of brain regio…
View article: Plasma Glucosylceramide Levels Are Regulated by <scp><i>ATP10D</i></scp> and Are Not Involved in Parkinson's Disease Pathogenesis
Plasma Glucosylceramide Levels Are Regulated by <span><i>ATP10D</i></span> and Are Not Involved in Parkinson's Disease Pathogenesis Open
GBA1 variants and decreased glucocerebrosidase activity are implicated in Parkinson's disease (PD). We investigated the hypothesis that increased levels of glucosylceramide (GlcCer), a main substrate of glucocerebrosidase, are involved in …
View article: Classification and Genotype–Phenotype Relationships of <scp><i>GBA1</i></scp> Variants: <scp>MDSGene</scp> Systematic Review
Classification and Genotype–Phenotype Relationships of <span><i>GBA1</i></span> Variants: <span>MDSGene</span> Systematic Review Open
Depending on zygosity and the specific change, different variants in the GBA1 gene can cause Parkinson's disease (PD, PARK‐ GBA1 ) with reduced penetrance, act as genetic risk factors for PD or parkinsonism, and/or lead to Gaucher's diseas…
View article: Polygenic scores for disease risk are not associated with clinical outcomes in Parkinson’s disease
Polygenic scores for disease risk are not associated with clinical outcomes in Parkinson’s disease Open
Polygenic risk scores (PRS) in Parkinson’s disease (PD) are associated with disease risk. Recently, pathway-specific PRS have been created to take advantage of annotations inking variants to biological pathways or cell types. Here, we inve…
View article: Toward a biological definition of neuronal and glial synucleinopathies
Toward a biological definition of neuronal and glial synucleinopathies Open
Cerebral accumulation of alpha-synuclein (αSyn) aggregates is the hallmark event in a group of neurodegenerative diseases-collectively called synucleinopathies-which include Parkinson's disease, dementia with Lewy bodies and multiple syste…
View article: The effect of polygenic risk score on PD risk and phenotype in <i>LRRK2</i> G2019S and <i>GBA1</i> carriers
The effect of polygenic risk score on PD risk and phenotype in <i>LRRK2</i> G2019S and <i>GBA1</i> carriers Open
Background While LRRK2 and GBA1 variants are associated with Parkinson's disease (PD), most carriers will not develop the disease. Objective To test if polygenic risk score (PRS) modifies disease risk and phenotypes in LRRK2 G2019S carrier…
View article: Radiological markers of CSF α-synuclein aggregation in Parkinson’s disease patients
Radiological markers of CSF α-synuclein aggregation in Parkinson’s disease patients Open
View article: Longitudinal Clinical Outcomes in Lrrk2 G2019s Non-Manifest Carriers in a Remote Nationwide Study
Longitudinal Clinical Outcomes in Lrrk2 G2019s Non-Manifest Carriers in a Remote Nationwide Study Open
View article: <i>LRRK2</i> -associated parkinsonism with and without <i>in vivo</i> evidence of alpha-synuclein aggregates: longitudinal clinical and biomarker characterization
<i>LRRK2</i> -associated parkinsonism with and without <i>in vivo</i> evidence of alpha-synuclein aggregates: longitudinal clinical and biomarker characterization Open
Among LRRK2-associated parkinsonism cases with nigral degeneration, over two-thirds demonstrate evidence of pathologic alpha-synuclein, but many do not. Understanding the clinical phenotype and underlying biology in such individuals is cri…
View article: PINK1 is a target of T cell responses in Parkinson’s disease
PINK1 is a target of T cell responses in Parkinson’s disease Open
Parkinson's disease (PD) is the second most prevalent neurodegenerative disorder. While there is no curative treatment, the immune system's involvement with autoimmune T cells that recognize the protein α-synuclein (α-syn) in a subset of i…
View article: Impact of dopamine deficiency and REM sleep behavior disorder on cognition in early neuronal synuclein disease with hyposmia
Impact of dopamine deficiency and REM sleep behavior disorder on cognition in early neuronal synuclein disease with hyposmia Open
Objectives To determine the impact of dopamine deficiency and isolated REM sleep behavior disorder (iRBD) on cognitive performance in early neuronal alpha-synuclein disease (NSD) with hyposmia. Methods Using Parkinson’s Progression Markers…
View article: Global Perspectives on Returning Genetic Research Results in Parkinson Disease
Global Perspectives on Returning Genetic Research Results in Parkinson Disease Open
Given the differences in resources and training for RoR, as well as ethical and regulatory considerations, tailored approaches are required to ensure equitable access to RoR. Several identified strategies to enhance RoR practices include i…
View article: The Parkinson’s disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons
The Parkinson’s disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons Open
Background Variants in the CTSB gene encoding the lysosomal hydrolase cathepsin B (catB) are associated with increased risk of Parkinson’s disease (PD). However, neither the specific CTSB variants driving these associations nor the functio…
View article: Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson’s disease risk
Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson’s disease risk Open
View article: Sensitivity and specificity of a seed amplification assay for diagnosis of multiple system atrophy: a multicentre cohort study
Sensitivity and specificity of a seed amplification assay for diagnosis of multiple system atrophy: a multicentre cohort study Open
Michael J Fox Foundation for Parkinson's Research, Amprion.
View article: <i>P2RX7,</i> an adaptive immune response gene, is associated with Parkinson's disease risk and age at onset
<i>P2RX7,</i> an adaptive immune response gene, is associated with Parkinson's disease risk and age at onset Open
Background The adaptive immune response has a role in Parkinson's disease (PD). Patients with LRRK2 or GBA1 mutations often exhibit distinct clinical characteristics. Objective To evaluate the involvement of adaptive immune response genes …
View article: Participant-reported personal utility of genetic testing for Parkinson’s disease and interest in clinical trial participation
Participant-reported personal utility of genetic testing for Parkinson’s disease and interest in clinical trial participation Open