Kelly Astudillo

Parkinson’s Disease Phenotype Stratification using Multiple Correspondence Analysis

Kelly Astudillo

Parkinson’s disease (PD) is the second most common neurodegenerative disorder, with over 12 million people projected to be affected by 2040 (Dorsey et al., 2018). Deep phenotyping and stratification can provide useful information regarding PD pathogenesis and can aid in the development …

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Integrated Stress Response Signatures Drive Monocyte Dysfunction in GBA1- and LRRK2-Linked Parkinson’s Disease

Daniele Mattei, Erica Brophy, Mikaela R. Rosen, Oriol Narcis Majos et autres

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Repeat Expansions with Small TTTCA Insertions in MARCHF6 Cause Familial Myoclonus without Epilepsy

Theresa Kühnel, Elsa Leitão, Renate Lunzer, Fabian Kilpert et autres

BACKGROUND: Familial adult myoclonus epilepsy (FAME) is a rare autosomal dominant disorder caused by the same intronic TTTTA/TTTCA repeat expansion in seven distinct genes. TTTTA-only expansions are benign, whereas those containing TTTCA insertions are pathogenic. OBJECTIVE: We investigated the genetic basis of …

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Assessing Internal Reproducibility Within a Parkinson’s Disease Cohort by Leveraging an Independent Larger Dataset

Kristen Watkins, Julia R. Greenberg, Kelly Astudillo, Charalambos Argyrou et autres

Background: Parkinson's disease (PD) is a complex and heterogeneous disorder that is likely composed of several phenotypic subgroups with distinct clinical features and patterns of disease progression. Cluster analysis, which categorizes subjects into groups of “maximal similarity”, is a valuable statistical tool …

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Establishing Reproducibility of Clinical Clusters Across Parkinson’s Disease Cohorts (P11-3.015)

Kristen Watkins, Julia R. Greenberg, Kelly Astudillo, Charalambos Argyrou et autres

To establish reproducibility of phenotype-based clustering in two independent datasets of patients with Parkinson’s disease (PD).

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Clinical prediction of GBA carrier status in Parkinson’s disease

Julia H. Greenberg, Kelly Astudillo, Steven J. Frucht, Adeen Flinker et autres

Given the unique natural history of GBA-related Parkinson’s disease (GBA-PD) and the potential for novel treatments in this population, genetic testing prioritization for the identification of GBA-PD patients is crucial for prognostication, individualizing treatment, and stratification for clinical trials. Assessing the predictive …

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Transcriptome deregulation of peripheral monocytes and whole blood in GBA-related Parkinson’s disease

Giulietta Maria Riboldi, Ricardo A. Vialle, Elisa Navarro, Evan Udine et autres

BACKGROUND: Genetic mutations in beta-glucocerebrosidase (GBA) represent the major genetic risk factor for Parkinson's disease (PD). GBA participates in both the endo-lysosomal pathway and the immune response, two important mechanisms involved in the pathogenesis of PD. However, modifiers of GBA penetrance have …

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Eye movement abnormalities in patients with Parkinson’s disease (PD) and heterozygous GBA variants versus non-carrier PD (P8-11.007)

Hannah M. Conn, Giulietta Maria Riboldi, Todd E. Hudson, John‐Ross Rizzo et autres

To investigate eye movement abnormalities in patients with PD and heterozygous GBA variants compared to non-carrier PD.

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Transcriptome deregulation of peripheral monocytes in GBA -related Parkinson’s disease

Giulietta Maria Riboldi, Ricardo A. Vialle, Elisa Navarro, Evan Udine et autres

Abstract Background Genetic mutations in the beta-glucocerebrosidase (GCase), GBA gene, represent the major genetic risk factor for Parkinson’s disease (PD). The function of the GBA gene is at the crossroads between the endo-lysosomal pathway and the immune response, two important mechanisms involved …

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