Results 231 to 240 of about 68,677 (270)

Heterogenous Neuropathology in a Pedigree with RAB39B‐Related Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background In 2015, we reported a family with Parkinson's disease resulting from the RAB39B p.G192R (c.574G>A) variant. Since then, two affected brothers from the family have undergone autopsy. Objectives To characterize neuropathological findings, assess intracellular distribution of RAB39B protein, and examine the effect of p.G192R on α ...
Caitlin Latimer, Oswaldo Lorenzo‐Betancor, Dong‐Hui Chen, Kimmy Su, Marika Bogdani, Anna J. Park, Minsuh Kim, Joshua Weiss, Malia Callier, Ella H. Chiu, Sarah Fish, Jennifer L. Witt, Wendy H. Raskind, Marie Y. Davis, C. Dirk Keene, Cyrus P. Zabetian   +15 more
wiley   +1 more source

Progression of Motor and Cognitive Functions in Isolated REM Sleep Behavior Disorder: A 7‐Year Prospective Matched Cohort Study

Movement Disorders, EarlyView.
Abstract Background Although clinical markers (eg, motor and cognitive impairment) in isolated rapid eye movement sleep behavior disorder (iRBD) are associated with faster phenoconversion, their longitudinal trajectory patterns (linear or nonlinear) remain unclear.
Li Zhou, Yaping Liu, Bei Huang, Jing Wang, Shi Tang, Yuhua Yang, Siyi Gong, Steven W.H. Chau, Joey W.Y. Chan, Mandy W.M. Yu, Jessie C.C. Tsang, Shirley Xin Li, Siu Ping Lam, Vincent C.T. Mok, Karen K.Y. Ma, Anne Y.Y. Chan, Jihui Zhang, Yun Kwok Wing   +17 more
wiley   +1 more source

Gray Matter Microstructure Measured Using Diffusion Imaging as a Biomarker of Severity in Lewy Body Diseases

Movement Disorders, EarlyView.
Abstract Background Despite widespread cortical involvement in Lewy body diseases, conventional gray matter magnetic resonance imaging (MRI) shows limited sensitivity. Diffusion‐weighted MRI‐derived microstructural measures have shown utility in Alzheimer's disease, but their application across the Lewy body disease spectrum remains limited ...
Angeliki Zarkali, Ivelina Dobreva, Naomi Hannaway, Rohan Bhome, George E.C. Thomas, Steffani Carrera, Amanda J. Heslegrave, Elena Veleva, Henrik Zetterberg, Rimona S. Weil   +9 more
wiley   +1 more source

Systematic Review of the Huntington's Disease Drug Development Pipeline, 2014 to 2025

Movement Disorders, EarlyView.
Abstract Background In the past decade, significant advances have improved our understanding of the mechanisms underlying HD pathobiology leading to several putative therapeutic targets for HD. Objective The aim was to describe the Huntington's disease (HD) drug development clinical pipeline.
Pavlina Konstantinova, Jenny Townhill, Juliana Bronzova, Viktoria Andreeva, Swati Sathe, Cristina Sampaio   +5 more
wiley   +1 more source

Transcranial Pulse Stimulation Enhances Dexterity in Parkinson's Disease: A Randomized Sham‐Controlled Trial

Movement Disorders, EarlyView.
Abstract Background Ultrasound‐based neuromodulation, capable of reaching deep brain areas with high precision, represents cutting‐edge technology in non‐invasive brain stimulation and is investigated as a novel treatment for neurological and psychiatric disorders, including Parkinson's disease (PD).
Eva Matt, Nina Plischek, Michael Mitterwallner, Sonja Radjenovic, Alexandra Weber, Alina Domitner, Gregor Dörl, Anna Zettl, Sarah Osou, Anna Leitgeb, Agnes Santer, Viktoria Winkler, Julia Mandelburger, Heidemarie Zach, Roland Beisteiner   +14 more
wiley   +1 more source

From Uncertainty to Pathogenicity: Resolving a CSF1R Variant of Uncertain Significance Using Long‐Read Transcriptomics

Movement Disorders, EarlyView.
Abstract Background CSF1R‐related disorder (CSF1R‐RD) is a severe autosomal dominant leukoencephalopathy characterized by progressive cognitive, neuropsychiatric, and motor decline. Although genetic testing is widely available, numerous likely pathogenic variants in CSF1R frequently remain classified as variants of uncertain significance (VUS ...
Charles Wade, Kylie Montgomery, Gabriela E. Jones, Peter Sellars, Akram A. Hosseini, Simon Paine, Henry Houlden, Mina Ryten, David S. Lynch   +8 more
wiley   +1 more source

Clinical Trajectories of Neurodegenerative Diseases in Older Adults: A Three-Sphere Framework for Precision Geriatric Neurology. [PDF]

Life (Basel)
Testa C, Palmese F, Boni S, Domenicali M, Lauretani F.   +4 more
europepmc   +1 more source

The GBA1 p.E427K (p.E388K) Variant Is a Risk Factor for Synucleinopathies: A Meta‐Analysis

Movement Disorders, EarlyView.
Abstract Background Variants in GBA1 are important genetic risk factors for synucleinopathies, including Parkinson's disease (PD). Although several GBA1 variants are established risk or severity modifiers, the role of the p.E427K variant remains unclear.
Leah V. Chifamba, Sitki Cem Parlar, Emma N. Somerville, Lang Liu, Eric Yu, Farnaz Asayesh, Jamil Ahmad, Meron Teferra, Jennifer A. Ruskey, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Alla Timofeeva, Anton Emelyanov, Sofya Pchelina, Irina Miliukhina, Lior Greenbaum, Sharon Hassin‐Baer, Orly Goldstein, Mandy Radefeldt, Peter Bauer, Christian Beetz, Allison A. Dilliott, James C. Beck, Konstantin Senkevich, ROPAD Study Group, The Parkinson's Foundation PD GENEration Study, Christine Klein, Roy N. Alcalay, Ziv Gan‐Or   +30 more
wiley   +1 more source

Food-chain spirochetes: a unified hypothesis for Parkinson's disease and dementia risk. [PDF]

Front Aging Neurosci
Sweeney LM.
europepmc   +1 more source