Katherine Leaver

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

Daniele Mattei, Erica Brophy, Oriol Narcis Majos, Aloysius Domingo et autres

Abstract Monocytes are increasingly implicated in Parkinson’s disease (PD) pathogenesis, with idiopathic cases showing mitochondrial and lysosomal dysfunction. However, the impact of PD-associated mutations on monocytes remains unclear. To address this, we investigated transcriptomic and functional disturbances in peripheral monocytes from patients …

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Differences in the Prevalence of Sleep Fragmentation and Other Baseline Sleep Characteristics in Genetic PD Subgroups

Mei Yang, A. Astefanous, Deborah Raymond, Mangal Rawal et autres

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Multiple sclerosis in LRRK2 G2019S Parkinson’s disease and isolated nigral degeneration in a homozygous variant carrier

Adina Wise, Deborah Raymond, Alessandra Cervera, Emma L Thorn et autres

Background LRRK2 variants have been associated with immune dysregulation as well as immune-related disorders such as IBD. A possible relationship between multiple sclerosis (MS) and LRRK2 PD has also been suggested. Further, neuropathologic studies of homozygous LRRK2 G2019S carriers with Parkinson’s disease …

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Investigating Disparities in Counseling Parkinson’s Disease Patients on Diet and Exercise in a Clinical Setting: An Examination of Gender, Race, Insurance Status, and Language Factors (P8-3.014)

Stefano Malerba, Katherine Leaver

This study investigates potential disparities in the provision of diet and exercise counseling for Parkinson’s disease (PD) patients, considering the influence of gender, race, insurance status, and language proficiency.

Tremor in cervical dystonia

Sinem Balta Beylergil, Krishna Nikhil Mukunda, Mohamed Hamouda Elkasaby, Joel S. Perlmutter et autres

Background: Cervical dystonia (CD) is the most common form of focal dystonia encountered in the clinic. Approximately one-third of CD patients have co-existing tremor in the head and hands. Assessment of tremor as regular or irregular in context of its oscillation trajectory, …

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A Telehealth Training Program for Neurology Residents (P8-2.005)

Matthew Davitz, Katherine Leaver, Maryna Skliut, Viktoriya Katsnelson et autres

Objective: Neurologists in-training will become proficient in skills needed for an effective teleneurology visit. Background: Telehealth has improved patient access to clinicians and reduced time/cost burden on patients. Video appointment are now offered in most practices. The AAMC has outlined telehealth domains …

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Clinical and Pathological Characterization of VPS16 Dystonia (P11-11.005)

Mariel Pullman, Deborah Raymond, Walter Molofsky, Naomi Lubarr et autres

Objective: To expand the clinical, radiologic and pathologic understanding of VPS16 related dystonia. Background: Variants in VPS16 have been associated with isolated dystonia in 35 cases from Chinese and European cohorts, including report of brainstem signal change on MRI. Design/Methods: We describe …

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Differences in Sex‐Specific Frequency of Glucocerebrosidase Variant Carriers and Familial Parkinsonism

Susan Bressman, Deborah Raymond, Laurie J. Ozelius, Viktoriya Katsnelson et autres

BACKGROUND: Although men and women with the LRRK2 G2019S variant appear to be equally likely to have Parkinson's disease (PD), the sex-distribution among glucocerebrosidase (GBA) variant carriers with PD, including limited to specific variant severities of GBA, is not well understood. Further, …

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Association of Olfactory Performance With Motor Decline and Age at Onset in People With Parkinson Disease and the LRRK2 G2019S Variant

Rachel Saunders‐Pullman, Cuiling Wang, Deborah Raymond, Sonya Elango et autres

Background and Objectives There is clinical and phenotypic heterogeneity in LRRK2 G2019S Parkinson disease (PD), including loss of smell. Olfactory scores have defined subgroups of LRRK2 PD at baseline. We now extend this work longitudinally to better determine features associated with olfactory …

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Longitudinal outcomes of LRRK2 gene mutation parkinsonism undergoing either Subthalamic Nucleus (STN) or Globus Pallidus Internus (GPi) Deep-Brain stimulation (DBS): a multi-group comparison (P1.8-029)

Katherine Leaver, Joan Miravite, Calla Dilli, Brianna Sa et autres

To improve our understanding of DBS in LRRK2 G2019S mutation carriers.

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An increased rate of longitudinal cognitive decline is observed in Parkinson's disease patients with low CSF Aß42 and an APOE ε4 allele

Marian Shahid, Jeehyun Kim, Katherine Leaver, Taylor R. Hendershott et autres

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