Results 41 to 50 of about 10,630 (263)

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Translation, Cultural Adaptation, and Reliability and Validity Testing of a Chinese Version of the Freezing of Gait Questionnaire (FOGQ-CH)

Frontiers in Neurology, 2021
Freezing of gait is a disabling symptom with a complex episodic nature that is frequently experienced by people with Parkinson's disease (PD). Although China has the largest population with PD in the world, no Chinese version of the freezing of gait ...
Ping Tao, Ping Tao, Xuerong Shao, Jie Zhuang, Zhen Wang, Yuchen Dong, Xia Shen, Xia Shen, Yunjie Guo, Xiaoyi Shu, Hong Wang, Yuanhong Xu, Zhenlan Li, Zhenlan Li, Roger Adams, Jia Han, Jia Han, Jia Han   +17 more
doaj   +1 more source

Lessons Learned From a Delayed‐Start Trial of Modafinil for Freezing of Gait in Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Freezing of gait (FOG) in people with Parkinson's disease (PwPD) is debilitating and has limited treatments. Modafinil modulates beta/gamma band activity in the pedunculopontine nucleus (PPN), like PPN deep brain stimulation. We therefore tested the hypothesis that Modafinil would improve FOG in PwPD.
Tuhin Virmani, Lakshmi Pillai, Reid D. Landes, Aliyah Glover, Shannon Doerhoff, Jennifer Kleiner, Mitesh Lotia, Rohit Dhall, Edgar Garcia‐Rill   +8 more
wiley   +1 more source

Freezing of Gait and its Associations in the Early and Advanced Clinical Motor Stages of Parkinson’s Disease: A Cross-Sectional Study

Journal of Parkinson’s Disease
Background: Freezing of gait is a common disabling symptom of Parkinson’s disease (PD) with limited treatment options. The pathophysiological mechanisms of freezing behaviour are still contentious.
Julie M. Hall, James M. Shine, Claire O’Callaghan, Courtney C. Walton, Moran Gilat, Sharon L. Naismith, Simon J.G. Lewis   +6 more
doaj   +1 more source

Immune‐Driven Expression in Inclusion Body Myositis With T‐Cell Large Granular Lymphocytic Leukemia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives T‐cell large granular lymphocytic leukemia (T‐LGLL), reported in up to 58% of inclusion body myositis (IBM) patients, is a rare leukemia of cytotoxic or less commonly helper T cells. The range of myopathies in T‐LGLL and the impact of coexisting T‐LGLL in IBM are not well understood. Our objectives are to investigate the spectrum of
Pannathat Soontrapa, Iago Pinal‐Fernandez, Pritikanta Paul, Michael P. Skolka, Margherita Milone, Min Shi, Mithun V. Shah, Maria Casal‐Dominguez, Katherine Pak, Andrew L. Mammen, Teerin Liewluck   +10 more
wiley   +1 more source

Improvement of Freezing of Gait in Patients with Parkinson's Disease by Imagining Bicycling

Case Reports in Neurology, 2014
Freezing of gait (FOG) is one of the factors that reduce the quality of life in patients with Parkinson's disease (PD). Imagining bicycling before gait start provided improvement in FOG in 2 PD patients.
Akio Kikuchi, Toru Baba, Takafumi Hasegawa, Naoto Sugeno, Masatoshi Konno, Emiko Miura, Ryuji Oshima, Masashi Aoki, Atsushi Takeda   +8 more
doaj   +1 more source

Clinical features and related factors of freezing of gait in patients with Parkinson's disease

Brain and Behavior, 2021
Background Freezing of gait (FOG) is a disabling paroxysmal gait disorder that prevents starting or resuming walking, which seriously negatively affects patients’ quality of life (QOL).
Fengting Zhang, Jin Shi, Yangyang Duan, Jiang Cheng, Hui Li, Tingting Xuan, Yue Lv, Peng Wang, Haining Li   +8 more
doaj   +1 more source

Brainstem and Cerebellar Volume Loss and Associated Clinical Features in Progressive Supranuclear Palsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Progressive Supranuclear Palsy (PSP) is a neurodegenerative ‘tauopathy’ with predominating pathology in the basal ganglia and midbrain. Caudal tau spread frequently implicates the cerebellum; however, the pattern of atrophy remains equivocal.
Chloe Spiegel, Timothy P. Siejka, Cassandra Marotta, Josh J. Y. Lee, Kelly Bertram, Terence J. O'Brien, Meng Law, Lucy Vivash, Ian H. Harding   +8 more
wiley   +1 more source

Freezing More than Gait: A Case Report of Freezing of Urination (FOU) in Parkinson’s Disease

Parkinson's Disease, 2020
Freezing of gait (FOG) is a disabling phenomenon that is described by patients with Parkinson’s disease (PD). Not only gait may be involved in the freezing phenomenon, but also some nonmotor symptoms, such as freezing of urination (FOU) in this case. The
Mengyuan Xu, Tao Chen, Caifei Yang, Xu Meng, Qingyun Peng, Xiaoguang Lei   +5 more
doaj   +1 more source

Fluid Biomarkers of Disease Burden and Cognitive Dysfunction in Progressive Supranuclear Palsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Identifying objective biomarkers for progressive supranuclear palsy (PSP) is crucial to improving diagnosis and establishing clinical trial and treatment endpoints. This study evaluated fluid biomarkers in PSP versus controls and their associations with regional 18F‐PI‐2620 tau‐PET, clinical, and cognitive outcomes.
Roxane Dilcher, Charles B. Malpas, Stuart J. McDonald, William T. O’Brien, Craig Despott, Kelly L. Bertram, Matthew P. Pase, Lukas Frontzkowski, Meng Law, Terence J. O’Brien, Lucy Vivash   +10 more
wiley   +1 more source