Article
Clinical Neurology
Yi Qu, Jiangting Li, Yupeng Chen, Jingyi Li, Qixiong Qin, Danlei Wang, Jingwei Zhao, Qingmei Yang, Zhijuan Mao, Yongjie Xiong, Zhe Min, Zheng Xue
Summary: This study investigated the association between freezing of gait (FOG) and cognitive impairment in patients with Parkinson's disease (PD) using multiple neuropsychological tests. The results showed that patients with FOG had worse cognitive performances compared to those without FOG, and progressive FOG was associated with more serious cognitive decline. FOG was mainly associated with declines in executive function, attention, and orientation, and was also associated with higher levels of cognition-related biomarkers in cerebrospinal fluid.
JOURNAL OF NEUROLOGY
(2023)
Article
Behavioral Sciences
Fengting Zhang, Jin Shi, Yangyang Duan, Jiang Cheng, Hui Li, Tingting Xuan, Yue Lv, Peng Wang, Haining Li
Summary: The study aimed to explore the clinical characteristics and related factors of Freezing of gait (FOG) in patients with Parkinson's disease (PD). The investigation found a 48% prevalence of FOG, with patients experiencing longer disease duration and higher Hoehn-Yahr stage, dopaminergic agent dose, and symptom scores. Logistic regression analysis revealed significant correlations between FOG occurrence and higher H-Y stage, rigidity score, and UPDRS scores.
BRAIN AND BEHAVIOR
(2021)
Article
Clinical Neurology
Li-Li Zhang, Liang Zhang, Jingde Dong, Ying Zhao, Xiao-Ping Wang
Summary: This study aimed to explore the relationship between nutritional status and characteristics of patients with Parkinson's disease with freezing of gait (PDFOG). The results showed that PDFOG patients with malnutrition or at risk of malnutrition had longer disease duration, more motor symptoms, lower body mass index, and more non-motor symptoms. Uric acid, albumin, prealbumin, and total cholesterol levels also differed between the two groups. The study suggests that early discovery of nutritional status is important in PDFOG patients.
FRONTIERS IN NEUROLOGY
(2022)
Review
Genetics & Heredity
Efthalia Angelopoulou, Anastasia Bougea, Sokratis G. Papageorgiou, Chiara Villa
Summary: Psychosis in Parkinson's disease (PDP) is a common and debilitating condition that significantly affects the quality of life for both patients and caregivers. It is associated with various risk factors such as age, sleep disturbances, disease duration, cognitive impairment, depression, and visual disorders. The pathophysiology of PDP is complex and not fully understood, and some medications used to treat PD can worsen or even precipitate PDP.
Review
Clinical Neurology
Jojo Yan Yan Kwok, Robert Smith, Lily Man Lee Chan, Leo Chun Chung Lam, Daniel Yee Tak Fong, Edmond Pui Hang Choi, Kris Yuet Wan Lok, Jung Jae Lee, Man Auyeung, Bastiaan R. Bloem
Summary: This study compared the effectiveness of different behavioral interventions for managing freezing of gait (FOG) in Parkinson's disease patients. The findings suggest that obstacle training, gait training on treadmill, and general exercises are most likely to reduce the severity of FOG symptoms.
JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Helena M. Cockx, Eefke M. Lemmen, Richard J. A. van Wezel, Ian G. M. Cameron
Summary: This study aims to provide guidelines for designing doorways for people with freezing and to explore the underlying mechanisms of doorway freezing.
FRONTIERS IN NEUROLOGY
(2023)
Article
Chemistry, Analytical
Andrea Marcante, Roberto Di Marco, Giovanni Gentile, Clelia Pellicano, Francesca Assogna, Francesco Ernesto Pontieri, Gianfranco Spalletta, Lucia Macchiusi, Dimitris Gatsios, Alexandros Giannakis, Maria Chondrogiorgi, Spyridon Konitsiotis, Dimitrios I. Fotiadis, Angelo Antonini
Summary: A novel system based on pressure insoles equipped with a 3D accelerometer has been validated for detecting freezing of gait in Parkinson's Disease patients with a high accuracy rate of 90% in clinical settings and ecological tasks.
Article
Clinical Neurology
Lingling Lv, Hainan Zhang, Xuling Tan, Zhe Long, Lixia Qin, Rongrong Bai, Qile Xiao, Ziwei Wu, Shenglan Hu, Changlian Tan, Haiyan Liao, Weiqian Yan, Beisha Tang, Feng Ren, Chunyu Wang
Summary: This study found that the severity of Parkinson's disease and the PIGD clinical phenotype are associated with freezing of gait, and dysfunction in the dorsal raphe nucleus may play a key role in nonmotor symptoms and freezing of gait in Parkinson's disease. Abnormal cortical and brainstem networks may contribute to the mechanisms underlying freezing of gait.
JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Aliyah Glover, Lakshmi Pillai, Rohit Dhall, Tuhin Firmani
Summary: Olfactory dysfunction in Parkinson's disease can be detected before motor symptoms, and a specific pattern of odorant identification on the UPSIT may discriminate between patients with and without freezing of gait. Freezers showed more severe hyposmia and had significantly worse identification of nine odors compared to non-freezers. A 3-odorant score can effectively categorize freezers and non-freezers with similar sensitivity and specificity to short odorant Parkinson's disease identification batteries.
FRONTIERS IN NEUROLOGY
(2021)
Article
Clinical Neurology
Cecile Gallea, Benoit Wicki, Claire Ewenczyk, Sophie Rivaud-Pechoux, Lydia Yahia-Cherif, Pierre Pouget, Marie Vidailhet, Elodie Hainque
Summary: Freezing of gait in Parkinson's disease is associated with increased antisaccade latencies, which predict the onset of freezing within 5 years. Patients who developed freezing during the follow-up had longer antisaccade latencies compared to those who did not. Resting state connectivity of mesencephalic locomotor region networks was differentially associated with antisaccade latency in patients at baseline and contributed to the further increase in latency over 5 years.
Article
Clinical Neurology
Cecile Gallea, Benoit Wicki, Claire Ewenczyk, Sophie Rivaud-Pechoux, Lydia Yahia-Cherif, Pierre Pouget, Marie Vidailhet, Elodie Hainque
Summary: In this study, it was found that antisaccade latency can serve as a predictive marker for the onset of freezing of gait within a 5-year period in patients with Parkinson's disease. The progression of freezing of gait was correlated with worsening antisaccade latencies, and baseline antisaccade latencies were predictive of freezing onset. Resting state connectivity of mesencephalic locomotor region networks were also found to be associated with changes in antisaccade latencies in patients and healthy volunteers.
Article
Clinical Neurology
Helio A. G. Teive, Paulina Cunha, Matheus Gomes Ferreira, Carlos Henrique F. Camargo, Joao Carlos P. Limongi, Egberto Reis Barbosa, Olivier Walusinski, Yves Agid
Summary: The paragraph discusses the description of "bégaiement de la mise en route du mouvement" phenomenon in patients with Parkinson's disease by Raymond Garcin, a neurology professor in Paris, France, and his Brazilian assistant, Professor Roberto Melaragno in 1948, which was one of the first descriptions of freezing of gait (FOG) in the world.
NEUROLOGICAL SCIENCES
(2021)
Article
Clinical Neurology
Hind A. Beydoun, Jiu-Chiuan Chen, Nazmus Saquib, Michelle J. Naughton, May A. Beydoun, Aladdin H. Shadyab, Lauren Hale, Alan B. Zonderman
Summary: Sleep and affective disorders are strong clinical predictors of incident Parkinson's disease, especially among women with both sleep and affective disorders.
JOURNAL OF AFFECTIVE DISORDERS
(2022)
Article
Clinical Neurology
Branislava Radojevic, Natasa T. Dragasevic-Miskovic, Ana Marjanovic, Marija Brankovic, Andona Milovanovic, Igor Petrovic, Marina Svetel, Ivan Jancic, Dejana Stanisavljevic, Ognjen Milicevic, Miroslav M. Savic, Vladimir S. Kostic
Summary: This study aimed to evaluate the association of six selected polymorphisms of DRD2, ANKK1, and COMT genes with the occurrence of freezing of gait (FOG) in Parkinson's disease (PD) patients. The results suggested that dopamine-related genes may contribute to the occurrence of FOG in addition to previously identified disease- and therapy-related risk factors.
PARKINSONISM & RELATED DISORDERS
(2022)
Article
Geriatrics & Gerontology
Nicole Mercado Fischer, Jared T. Hinkle, Kate Perepezko, Catherine C. Bakker, Meaghan Morris, Martinus P. G. Broen, Ankur Butala, Ted M. Dawson, Albert F. G. Leentjens, Zoltan Mari, Cherie L. Marvel, Kelly A. Mills, Liana S. Rosenthal, Melissa D. Shepard, Alexander Pantelyat, Arnold Bakker, Olga Pletnikova, Juan C. Troncoso, Jiangxia Wang, Gregory M. Pontone
Summary: The study found that some Parkinson's disease patients had psychosis and depression, which were closely related to neuronal loss and gliosis in the substantia nigra but not in the locus coeruleus. Psychosis and depression were associated with the severity of neuronal loss and gliosis in the substantia nigra, while anxiety did not show such association.
AMERICAN JOURNAL OF GERIATRIC PSYCHIATRY
(2021)
Editorial Material
Obstetrics & Gynecology
Mary E. Norton
OBSTETRICAL & GYNECOLOGICAL SURVEY
(2021)
Article
Respiratory System
Christopher N. Fortner, Julie M. Seguin, Denise M. Kay
JOURNAL OF CYSTIC FIBROSIS
(2021)
Article
Genetics & Heredity
Georgia Pitsava, Marcia L. Feldkamp, Nathan Pankratz, John Lane, Denise M. Kay, Kristin M. Conway, Gary M. Shaw, Jennita Reefhuis, Mary M. Jenkins, Lynn M. Almli, Andrew F. Olshan, Faith Pangilinan, Lawrence C. Brody, Robert J. Sicko, Charlotte A. Hobbs, Mike Bamshad, Daniel McGoldrick, Deborah A. Nickerson, Richard H. Finnell, James Mullikin, Paul A. Romitti, James L. Mills
Summary: Bladder exstrophy (BE) is a rare defect with genetic variations possibly playing a role. A study involving exome sequencing of 26 child/mother/father trios identified several rare variants in genes such as TSPAN4, TUBE1, WNT3, CRKL, MYH9, and LZTR1 associated with BE. Furthermore, de novo variants and rare compound heterozygous variants were also detected, suggesting a complex genetic basis for this defect.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Endocrinology & Metabolism
Kim Hart, Andreas Rohrwasser, Heidi Wallis, Heather Golsan, Jianyin Shao, Taylor Anderson, Xiaoli Wang, Nicolas Szabo-Fresnais, Mark Morrissey, Denise M. Kay, Matthew Wojcik, Patricia A. Galvin-Parton, Nicola Longo, Michele Caggana, Marzia Pasquali
Summary: Newborn screening can effectively identify GAMT deficiency and provide early treatment for infants to prevent intellectual disability and seizures.
MOLECULAR GENETICS AND METABOLISM
(2021)
Article
Neurosciences
Zachary D. Wallen, William J. Stone, Stewart A. Factor, Eric Molho, Cyrus P. Zabetian, David G. Standaert, Haydeh Payami
Summary: Through research, it was found that there is dysbiosis in the gut microbiome of PD patients, with an overabundance of opportunistic pathogens influenced by the host genotype at the alpha-synuclein locus. These results suggest hypotheses on the pathogenesis of PD, incomplete penetrance of susceptibility genes, and potential triggers of gut pathology.
NPJ PARKINSONS DISEASE
(2021)
Article
Genetics & Heredity
Faith Pangilinan, David Watkins, David Bernard, Yue Chen, Ningzheng Dong, Qingyu Wu, Hatice Ozel-Abaan, Manjit Kaur, Michele Caggana, Mark Morrissey, Marilyn L. Browne, James L. Mills, Carol Van Ryzin, Oleg Shchelochkov, Jennifer Sloan, Charles P. Venditti, Kyriakie Sarafoglou, David S. Rosenblatt, Denise M. Kay, Lawrence C. Brody
Summary: The p.E88del variant in the transcobalamin receptor, CD320, shows functional consequences and clinical significance in cell culture and genetic association studies, with homozygous newborns at low risk of requiring clinical intervention and minimal effects on cobalamin metabolism.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Pathology
Robert J. Sicko, Paul A. Romitti, Marilyn L. Browne, Lawrence C. Brody, Colleen F. Stevens, James L. Mills, Michele Caggana, Denise M. Kay
Summary: This study investigated the potential errors caused by variants in the reference amplicon during assessment and validation of genomic copy number variations using RPPH1 as a reference gene. Thirteen individuals carrying four different variants within the RPPH1 amplicon were identified, which could lead to inaccurate measurement of copy number. Laboratories should be aware of the possibility of inaccurate results when using a single qPCR control assay.
JOURNAL OF MOLECULAR DIAGNOSTICS
(2022)
Article
Health Care Sciences & Services
Jian Gao, Eileen Moran, Donald S. Higgins, Carter Mecher
Summary: This study develops a predictive model to accurately identify high-risk and high-cost patients for proactive intervention. Using patient comorbidities and statistical models, the Box-Cox regression using comorbidities designated by the expanded CCSR groups as predictors shows the highest predictive power.
Article
Developmental Biology
Georgia Pitsava, Marcia L. Feldkamp, Nathan Pankratz, John Lane, Denise M. Kay, Kristin M. Conway, Charlotte Hobbs, Gary M. Shaw, Jennita Reefhuis, Mary M. Jenkins, Lynn M. Almli, Cynthia Moore, Martha Werler, Marilyn L. Browne, Chris Cunniff, Andrew F. Olshan, Faith Pangilinan, Lawrence C. Brody, Robert J. Sicko, Richard H. Finnell, Michael J. Bamshad, Daniel McGoldrick, Deborah A. Nickerson, James C. Mullikin, Paul A. Romitti, James L. Mills
Summary: This study reports a possible association between ID1 and non-syndromic SA for the first time. Although maternal pregestational diabetes has been strongly associated with SA, the missense variants in ID1 identified in two of three children were paternally inherited. These findings provide data for future studies.
BIRTH DEFECTS RESEARCH
(2022)
Article
Neurosciences
Rosie Morris, Douglas N. Martini, Katrina Ramsey, Valerie E. Kelly, Katrijn Smulders, Amie Hiller, Kathryn A. Chung, Shu-Ching Hu, Cyrus P. Zabetian, Kathleen L. Poston, Ignacio F. Mata, Karen L. Edwards, Jodi Lapidus, Brenna Cholerton, Thomas J. Montine, Joseph F. Quinn, Fay Horak
Summary: The study aimed to investigate differences in gait and balance impairments in Parkinson's disease patients with and without GBA variants (mutation carriers and E326K polymorphism) and explore the direct and indirect effects of GBA status on gait, balance, and cognition. The results showed that the GBA variant group had more impaired gait and balance, and cognition mediated the impact of GBA status on gait and balance.
NPJ PARKINSONS DISEASE
(2022)
Article
Clinical Neurology
Jason Jonathon Sico, Elizabeth K. Seng, Kaicheng Wang, Melissa Skanderson, Emmanuelle A. D. Schindler, John P. Ney, Nancy Lorenze, Addison Kimber, Hayley Lindsey, Amy S. Grinberg, Deena Kuruvilla, Donald S. Higgins, Glenn Graham, Friedhelm Sandbrink, Joel Scholten, Robert E. Shapiro, Richard B. Lipton, Brenda T. Fenton
Summary: Gender differences exist among US veterans in headache types, sociodemographic characteristics, military campaign and exposures, and health care utilization. There are significant differences in headache types, military exposures, and health care utilization.
Article
Multidisciplinary Sciences
Zachary D. Wallen, Ayse Demirkan, Guy Twa, Gwendolyn Cohen, Marissa N. Dean, David G. Standaert, Timothy R. Sampson, Haydeh Payami
Summary: The authors conducted a large-scale metagenomics analysis comparing gut microbiomes of Parkinson's disease patients and healthy individuals, revealing dysbiosis in PD and confirming the importance of the gut microbiome in PD pathogenesis.
NATURE COMMUNICATIONS
(2022)
Letter
Clinical Neurology
Serdar Kazanci, Jennifer Witt, Kimmy Su, Oswaldo Lorenzo-Betancor, Dora Yearout, Cyrus P. Zabetian, Marie Y. Davis
MOVEMENT DISORDERS CLINICAL PRACTICE
(2023)
Article
Genetics & Heredity
Robert J. Sicko, Colleen F. Stevens, Erin E. Hughes, Melissa Leisner, Helen Ling, Carlos A. Saavedra-Matiz, Michele Caggana, Denise M. Kay
Summary: This study describes the improvement of CF NBS algorithm in New York State through transition to a new custom NGS platform for more comprehensive CFTR gene analysis. The custom assay streamlined the molecular workflow, increased throughput, and demonstrated feasibility in NBS setting. Technological molecular improvements can reduce FP referrals without loss of sensitivity in NBS algorithms.
INTERNATIONAL JOURNAL OF NEONATAL SCREENING
(2021)