Results 51 to 60 of about 4,639 (191)

Defining the Clinical Phenotypic Ground Truth: Expert Interrater Agreement in Hyperkinetic Movement Disorders

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Reliable clinical phenotyping is crucial for diagnosis, treatment, and research in hyperkinetic movement disorders, yet its interrater reliability remains uncertain. Objectives To quantify interrater agreement in clinical phenotyping of hyperkinetic movement disorders among experts in a large, phenotypically diverse cohort.
Madelein van der Stouwe, Olof Vermeulen, Wieke Eggink, Tove Henriksen, Eavan McGovern, Marenka Smit, Selma Aybek, Agnita Boon, Rick Brandsma, Andres Deik, Roberto Erro, Alberto Espay, Cristian Falup‐Pecurariu, Stephen Frucht, Christos Ganos, Emilia Gatto, Rick Helmich, Christine Klein, Hans Koelman, Vincent Odekerken, Lisette Koens, Abhimanyu Mahajan, Francesca Morgante, Alexander Münchau, Pattamon Panyakaew, Kathryn Peall, Bélen Pérez‐Dueñas, Emanuel Roze, Anna Sadnicka, Susanne Schneider, Petra Schwingenschuh, Tereza Serranova, Matej Skorvanek, Maria Stamelou, Gertrúd Tamas, Michele Tinazzi, Anna Valadas, Wim Vandenberghe, Jeroen de Vries, Rodi Zutt, Sterre van der Veen, Rogier Luiken, Inge Tuitert, Marina Tijssen   +43 more
wiley   +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

The role of dopamine in the pathogenesis of GBA1-linked Parkinson's disease

Neurobiology of Disease, 2019
Our understanding of the molecular mechanisms underlying differential vulnerability of substantia nigra dopamine neurons in Parkinson's disease (PD) remains limited, and previous therapeutic efforts targeting rodent nigral neurons have not been successfully translated to humans.
Lena F. Burbulla, Dimitri Krainc
openaire   +3 more sources

SAA positivity rate amongst dual LRRK2-GBA1, GBA1 and LRRK2 carriers with Parkinson’s disease

ABSTRACT We investigated whether people with Parkinson’s disease who are dual GBA1+LRRK2 carriers have a milder, LRRK2-like phenotype as previously reported. This was accomplished by comparing clinical features and alpha-synuclein seed amplification assay (SAA) positivity rates between dual GBA1+LRRK2-PD(n=13), GBA1-PD(n=169) and LRRK2 ...
Penina Ponger, Anuprita R Nair, Noah S Johnson, Chelsea Caspell-Garcia, David-Erick Lafontant, Roy N Alcalay   +5 more
openaire   +3 more sources

Rare‐Variant Burden Analysis of Dystonia Genes in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Dystonia frequently coexists with Parkinson's disease (PD), yet the extent of genetic overlap remains insufficiently explored. Objective The aim was to examine whether rare variants in dystonia‐related genes are associated with PD or early‐onset PD (EOPD).
Sajanth Kanagasingam, Sitki Cem Parlar, Lang Liu, Ziv Gan‐Or, Konstantin Senkevich   +4 more
wiley   +1 more source

Lack of full sequencing GBA1 studies for patients with Parkinson’s disease in Latin America

npj Parkinson's Disease, 2022
Full sequencing of the GBA1 gene in patients with Parkinson’s disease provides a wide screening of pathogenic variants, but less developed regions of the world, like Latin America, may have difficulties in performing full sequencing.
Bruno Lopes Santos-Lobato, Artur F. Schumacher-Schuh, Ignacio F. Mata   +2 more
doaj   +1 more source

The molecular mechanism of Gaucher disease caused by compound heterozygous mutations in GBA1 gene

Frontiers in Pediatrics, 2023
Gaucher disease (GD, ORPHA355) is a rare autosomal recessive genetic disease caused by mutations in GBA1, which encodes the lysosomal enzyme glucocerebrosidase (GCase).
Qi Liu, Zongrui Shen, Zongrui Shen, Hong Pan, Shunfei Ma, Shunfei Ma, Fu Xiong, Fu Xiong, Fei He, Fei He   +9 more
doaj   +1 more source

The Effect of LRRK2 and GBA1 Mutations on Survival in Early‐ and Late‐Onset Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Mutations in the glucocerebrosidase 1 (GBA1) and leucine‐rich repeat kinase 2 (LRRK2) genes are associated with Parkinson's disease (PD) phenotype. Objective To asses the contribution of genetic status to long‐term survival of patients with PD.
Raz Rubin, Roy N. Alcalay, Nurit Omer, Orly Goldstein, Mali Gana Weisz, Anat Mirelman, Avner Thaler   +6 more
wiley   +1 more source

The effect of mutant GBA1 on accumulation and aggregation of α-synuclein

Human Molecular Genetics, 2019
Gaucher disease (GD) patients and carriers of GD mutations have a higher propensity to develop Parkinson's disease (PD) in comparison to the non-GD population. This implies that mutant GBA1 allele is a predisposing factor for the development of PD. One of the major characteristics of PD is the presence of oligomeric α-synuclein-positive inclusions ...
Gali, Maor, Debora, Rapaport, Mia, Horowitz   +2 more
openaire   +2 more sources

Consistency of Serial Cerebrospinal Fluid α‐Synuclein Seed Amplification Assay Results in the Parkinson's Precision Medicine Initiative

Movement Disorders, EarlyView.
Abstract Background Studies reporting α‐synuclein seed amplification assay (aSyn‐SAA) results are often cross‐sectional. Objectives In this study, we investigated the intraindividual consistency of aSyn‐SAA results (Amprion) over time from participants in the Parkinson's Precision Medicine Initiative (PPMI).
David G. Coughlin, Caroline Gochanour, Jie Yin, Luis Concha‐Marambio, Carly Farris, Yihua Ma, David‐Erick Lafontant, Edwin Jabbari, Tanya Simuni, Ken Marek, Thomas F. Tropea, the Parkinson's Precision Medicine Initiative, Neha Prakash, Tanya Simuni, Nabila Dahodwala, Caroline Tanner, Lana Chahine, Brit Mollenhauer, Sebastian Schade, Douglas Galasko, Anat Mirelman, Roy Alcalay, Katherine Leaver, Marie Saint‐Hilaire, Ruth Schneider, Christopher Tarolli, Werner Poewe, Aleksandar Videnovic, David Standaert, Marissa Dean, Sonja Jonsdottir, Rejko Krueger, Claire Pauly, Stewart Factor, Penelope Hogarth, Robert Hauser, Amy Amara, Michelle Fullard, Cyrus Zabetian, Hubert Fernandez, Kathrin Brockmann, Isabel Wurster, Yen Tai, Paolo Barone, Marina Picillo, Stuart Isaacson, Alberto Espay, Eduardo Tolosa, Javier Ruiz Martinez, Leonidas Stefanis, Kelvin Chou, Lorraine Kalia, Connie Marras, David Grimes, Tiago Mestre, Rajesh Pahwa, Mark Lew, Holly Shill, Shyamal Mehta, Giulietta Riboldi, Nikolaus McFarland, Ron Postuma, Zoltan Mari, David Ledingham, Nicola Pavese, Michele Hu, Norbert Brueggemann, Christine Klein, Bastiaan Bloem, Cristina Simonet, Alastair Noyce, Anette Janzen, David Pedrosa, Wolfgang Oertel, Njideka Okubadejo, David Shprecher, Arjun Tarakad, Emile Moukheiber   +77 more
wiley   +1 more source