4.6 Article

Nonmotor Symptoms in Healthy Ashkenazi Jewish Carriers of the G2019S Mutation in the LRRK2 Gene

期刊

MOVEMENT DISORDERS
卷 30, 期 7, 页码 981-986

出版社

WILEY-BLACKWELL
DOI: 10.1002/mds.26213

关键词

Non-manifesting carriers; LRRK2; Parkinson's disease; prodromal

资金

  1. Michael J Fox Foundation
  2. National Institute of Health [R56NS036630, K02NS080915, NS050487, NS060113, UL1 TR000040]
  3. Tel Aviv Sourasky Medical Center Grant of Excellence, Khan Foundation
  4. Israel Science Foundation Heritage Legacy

向作者/读者索取更多资源

Background: The asymptomatic carriers of the Leucine rich repeat kinase 2 (LRRK2) G2019S mutation represent a population at risk for developing PD. The aim of this study was to assess differences in nonmotor symptoms between nonmanifesting carriers and noncarriers of the G2019S mutation. Methods: Two hundred fifty-three subjects participated in this observational cross-sectional multicenter study. Standard questionnaires assessing anxiety, depression, cognition, smell, nonmotor symptoms, and rapid eye movement (REM) sleep behavior were administered. Analyses were adjusted for age, sex, family relations, education, and site. Results: One hundred thirty-four carriers were identified. Carriers had higher nonmotor symptoms score on the Nonmotor symptoms (NMS) questionnaire (P = 0.02). These findings were amplified in carriers older than age 50 y, with higher nonnnotor symptoms scores and trait anxiety scores (P< 0.03). Conclusions: In this cross-section study, carriers of the G20195 LRRK2 mutation endorsed subtle nonnnotor symptoms. Whether these are early features of PD will require a longitudinal study. (C) 2015 International Parkinson and Movement Disorder Society

作者

我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.6
评分不足

次要评分

新颖性
-
重要性
-
科学严谨性
-
评价这篇论文

推荐

Article Clinical Neurology

Clinical and dopamine transporter imaging characteristics of non-manifest LRRK2 and GBA mutation carriers in the Parkinson's Progression Markers Initiative (PPMI): a cross-sectional study

Tanya Simuni, Liz Uribe, Hyunkeun Ryan Cho, Chelsea Caspell-Garcia, Christopher S. Coffey, Andrew Siderowf, John Q. Trojanowski, Leslie M. Shaw, John Seibyl, Andrew Singleton, Arthur W. Toga, Doug Galasko, Tatiana Foroud, Duygu Tosun, Kathleen Poston, Daniel Weintraub, Brit Mollenhauer, Caroline M. Tanner, Karl Kieburtz, Lana M. Chahine, Alyssa Reimer, Samantha J. Hutten, Susan Bressman, Kenneth Marek, Vanessa Arnedo, Adrienne Clark, Mark Fraiser, Catherine Kopil, Sohini Chowdhury, Todd Sherer, Nichole Daegele, Christina Salerno, Cynthia Casaceli, Ray Dorsey, Renee Wilson, Sugi Mahes, Karen Crawford, Paola Casalin, Giulia Malferrari, Mali GaniWeisz, Avi Orr-Urtreger, Thomas Montine, Chris Baglieri, Amanda Christini, David Russell, Nabila Dahodwala, Nir Giladi, Stewart Factor, Penelope Hogarth, David Standaert, Robert Hauser, Joseph Jankovic, Marie Saint-Hilaire, Irene Richard, David Shprecher, Hubert Fernandez, Katrina Brockmann, Liana Rosenthal, Paolo Barone, Alberto Espay, Dominic Rowe, Karen Marder, Anthony Santiago, Shu-Ching Hu, Stuart Isaacson, Jean-Christophe Corvol, Javiar Ruiz Martinez, Eduardo Tolosa, Yen Tai, Marios Politis, Debra Smejdir, Linda Rees, Karen Williams, Farah Kausar, Karen Williams, Whitney Richardson, Diana Willeke, Shawnees Peacock, Barbara Sommerfeld, Alison Freed, Katrina Wakeman, Courtney Blair, Stephanie Guthrie, Leigh Harrell, Christine Hunter, Cathi-Ann Thomas, Raymond James, Grace Zimmerman, Victoria Brown, Jennifer Mule, Ella Hilt, Kori Ribb, Susan Ainscough, Misty Wethington, Madelaine Ranola, Helen Mejia Santana, Juliana Moreno, Deborah Raymond, Krista Speketer, Stephanie Carvalo, Ioana Croitoru, Alicia Garrido, Laura Marie Payne, Veena Viswanth, Lawrence Severt, Maurizio Facheris, Holly Soares, Mark A. Mintun, Jesse Cedarbaum, Peggy Taylor, Kevin Biglan, Emily Vandenbroucke, Zulfiqar Haider Sheikh, Baris Bingol, Tanya Fischer, Pablo Sardi, Remi Forrat, Alastair Reith, Jan Egebjerg, Gabrielle Ahlberg Hillert, Barbara Saba, Chris Min, Robert Umek, Joe Mather, Susan De Santi, Anke Post, Frank Boess, Kirsten Taylor, Igor Grachev, Andreja Avbersek, Pierandrea Muglia, Kaplana Merchant, Johannes Tauscher

LANCET NEUROLOGY (2020)

Article Clinical Neurology

Tossing and Turning in Bed: Nocturnal Movements in Parkinson's Disease

Anat Mirelman, Inbar Hillel, Lynn Rochester, Silvia Del Din, Bastiaan R. Bloem, Laura Avanzino, Alice Nieuwboer, Inbal Maidan, Talia Herman, Avner Thaler, Tanya Gurevich, Meir Kestenbaum, Avi Orr-Urtreger, Mirek Brys, Jesse M. Cederbaum, Nir Giladi, Jeffrey M. Hausdorff

MOVEMENT DISORDERS (2020)

Article Clinical Neurology

Advantages of timing the duration of a freezing of gait-provoking test in individuals with Parkinson's disease

Talia Herman, Moria Dagan, Shirley Shema-Shiratzky, Tal Reches, Marina Brozgol, Nir Giladi, Brad Manor, Jeffrey M. Hausdorff

JOURNAL OF NEUROLOGY (2020)

Article Clinical Neurology

A Possible Modifying Effect of the G2019S Mutation in the LRRK2 Gene on GBA Parkinson's Disease

Nurit Omer, Nir Giladi, Tanya Gurevich, Anat Bar-Shira, Mali Gana-Weisz, Orly Goldstein, Meir Kestenbaum, Jesse M. Cedarbaum, Avi Orr-Urtreger, Anat Mirelman, Avner Thaler

MOVEMENT DISORDERS (2020)

Article Multidisciplinary Sciences

Metabolic syndrome does not influence the phenotype of LRRK2 and GBA related Parkinson's disease

Avner Thaler, Shani Shenhar-Tsarfaty, Yanay Shaked, Tanya Gurevich, Nurit Omer, Anat Bar-Shira, Mali Gana-Weisz, Orly Goldstein, Meir Kestenbaum, Jesse M. Cedarbaum, Avi Orr-Urtreger, Nir Giladi, Anat Mirelman

SCIENTIFIC REPORTS (2020)

Article Engineering, Biomedical

Combining transcranial direct current stimulation with a motor-cognitive task: the impact on dual-task walking costs in older adults

Nofar Schneider, Moria Dagan, Racheli Katz, Pablo Cornejo Thumm, Marina Brozgol, Nir Giladi, Brad Manor, Anat Mirelman, Jeffery M. Hausdorff

Summary: The study found that tDCS during challenging walking decreased the dual-task cost to walking in older adults. These results support the presence of a state-dependent impact of neuro-modulation.

JOURNAL OF NEUROENGINEERING AND REHABILITATION (2021)

Article Clinical Neurology

Detecting Sensitive Mobility Features for Parkinson's Disease Stages Via Machine Learning

Anat Mirelman, Mor Ben Or Frank, Michal Melamed, Lena Granovsky, Alice Nieuwboer, Lynn Rochester, Silvia Del Din, Laura Avanzino, Elisa Pelosin, Bastiaan R. Bloem, Ugo Della Croce, Andrea Cereatti, Paolo Bonato, Richard Camicioli, Theresa Ellis, Jamie L. Hamilton, Chris J. Hass, Quincy J. Almeida, Maidan Inbal, Avner Thaler, Julia Shirvan, Jesse M. Cedarbaum, Nir Giladi, Jeffrey M. Hausdorff

Summary: This study utilized wearable sensors to record gait and mobility measures in PD patients and healthy controls, and applied machine-learning algorithms to distinguish between different stages of PD severity. The findings suggest that gait and mobility measures can reflect distinct PD stages with high discriminatory values.

MOVEMENT DISORDERS (2021)

Article Clinical Neurology

Multitarget Transcranial Electrical Stimulation for Freezing of Gait: A Randomized Controlled Trial

Brad Manor, Moria Dagan, Talia Herman, Natalia A. Gouskova, Veronique G. Vanderhorst, Nir Giladi, Thomas G. Travison, Alvaro Pascual-Leone, Lewis A. Lipsitz, Jeffrey M. Hausdorff

Summary: This study found that multi-session transcranial direct current stimulation targeting the left dorsolateral prefrontal cortex and primary motor cortex did not significantly improve laboratory-based FOG-provoking test performance, but showed some improvement in patients with mild-to-moderate FOG severity.

MOVEMENT DISORDERS (2021)

Article Geriatrics & Gerontology

Hippocampal and non-hippocampal correlates of physically active lifestyle and their relation to episodic memory in older adults

Tamir Eisenstein, Nir Giladi, Talma Hendler, Ofer Havakuk, Yulia Lerner

Summary: The study found that aerobic activity and cardiorespiratory fitness in older adults are associated with neurocognitive abilities and identified potential neural pathways mediating this relationship. The results support a neuroprotective role of aerobic exercise on the aging brain.

NEUROBIOLOGY OF AGING (2022)

Article Clinical Neurology

A multimodal approach using TMS and EEG reveals neurophysiological changes in Parkinson's disease

Inbal Maidan, Noa Zifman, Jeffrey M. Hausdorff, Nir Giladi, Ofri Levy-Lamdan, Anat Mirelman

Summary: The study investigated specific changes in electrical brain activity in response to stimulation of four brain areas in patients with Parkinson's disease (PD) using a combined transcranial magnetic stimulation (TMS) and electroencephalography (EEG) assessment. Patients with PD showed lower waveform adherence, lower early phase deflection, lower inter-trial adherence, and lower connectivity between homologous brain areas compared to healthy controls. The findings suggest various alterations in neurophysiological measures in PD patients, indicating different aspects related to the pathophysiology of the disease.

PARKINSONISM & RELATED DISORDERS (2021)

Article Clinical Neurology

ND0612 (levodopa/carbidopa for subcutaneous infusion) in patients with Parkinson's disease and motor response fluctuations: A randomized, placebo-controlled phase 2 study

Nir Giladi, Tanya Gurevich, Ruth Djaldetti, Liat Adar, Ryan Case, Shelly Leibman-Barak, Nissim Sasson, Yoseph Caraco

Summary: ND0612, a continuous subcutaneous levodopa/carbidopa delivery system, was well-tolerated and resulted in reduced OFF time and decreased plasma levodopa fluctuations when used adjunctively in PD patients. Although most patients experienced infusion site nodules, they all resolved without sequelae.

PARKINSONISM & RELATED DISORDERS (2021)

Article Clinical Neurology

Limited Ability to Adjust N2 Amplitude During Dual Task Walking in People With Drug-Resistant Juvenile Myoclonic Epilepsy

Mor Yam, Sigal Glatt, Shai Nosatzki, Anat Mirelman, Jeffrey M. Hausdorff, Lilach Goldstein, Nir Giladi, Firas Fahoum, Inbal Maidan

Summary: Juvenile myoclonic epilepsy (JME) is a common epileptic syndrome, and drug resistance is a significant issue. This study found that drug-resistant JME patients have altered brain activity during highly demanding tasks that combine cognitive and motor functions.

FRONTIERS IN NEUROLOGY (2022)

Article Chemistry, Analytical

Paroxysmal Slow-Wave Events Are Uncommon in Parkinson's Disease

Dan Z. Milikovsky, Yotam Sharabi, Nir Giladi, Anat Mirelman, Ronen Sosnik, Firas Fahoum, Inbal Maidan

Summary: This study aimed to examine the presence of paroxysmal slow-wave events (PSWE) as a biomarker for cortical involvement in Parkinson's disease (PD). The results showed no significant differences in the number of PSWEs between PD patients and controls in all brain regions. However, the correlation between PSWEs and disease duration suggests early signs of cortical involvement in PD.

SENSORS (2023)

Article Clinical Neurology

Variants in PSMB9 and FGR differentially affect Parkinson's disease risk in GBA and LRRK2 mutation carriers

Shachar Shani, Orly Goldstein, Mali Gana-Weisz, Anat Bar-Shira, Avner Thaler, Tanya Gurevich, Anat Mirelman, Nir Giladi, Roy N. Alcalay, Avi Orr-Urtreger

Summary: Recent studies have found a link between Parkinson's disease (PD) and changes in the innate immune system. This study aimed to determine if genetic variations in innate immune genes are differentially associated with PD in different subgroups, including GBA-PD, LRRK2-PD, and non-carrier PD (NC-PD).

PARKINSONISM & RELATED DISORDERS (2023)

Article Chemistry, Analytical

Differences in EEG Event-Related Potentials during Dual Task in Parkinson's Disease Carriers and Non-Carriers of the G2019S-LRRK2 Mutation

Eden Shkury, Shani Danziger-Schragenheim, Zoya Katzir, Yael Ezra, Nir Giladi, Anat Mirelman, Inbal Maidan

Summary: This study investigated the neurophysiological changes in Parkinson's disease patients with and without the G2019S-LRRK2 gene mutation. The results showed that patients with the mutation performed better in cognitive tasks and exhibited more efficient early cognitive processes, which may contribute to their better cognitive performance.

SENSORS (2023)

暂无数据