Results 101 to 110 of about 4,891,805 (263)

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

Cell-specific mechanisms drive connectivity across the time course of Huntington’s disease

Nature Communications
Hyperconnectivity in functional brain networks occurs decades before disease onset in Huntington’s disease. However, the biological mechanisms remain unknown. We investigate connectivity in Huntington’s disease using Morphometric INverse Divergence (MIND)
Carlos Estevez-Fraga, Isaac Sebenius, Justine Y. Hansen, Benjamin Hänisch, Paul Zeun, Rachael I. Scahill, Sarah Gregory, Eilanoir B. Johnson, Edward J. Wild, Lauren M. Byrne, Alexandra Durr, Bernhard Landwehrmeyer, Blair R. Leavitt, Bratislav Misic, Sofie Louise Valk, Geraint Rees, Sarah J. Tabrizi, Peter McColgan   +17 more
doaj   +1 more source

Huntington’s disease: Managing neuropsychiatric symptoms in Huntington’s disease

Australasian Psychiatry, 2018
Objectives: This clinical update review focuses on the management of the neuropsychiatric manifestations of Huntington’s disease (HD). The review highlights current issues regarding pharmacological and non-pharmacological treatment, putative therapeutics and recent relevant research findings in this area.
Samantha M Loi, Mark Walterfang, Dennis Velakoulis, Jeffrey CL Looi   +3 more
openaire   +3 more sources

Assessment of the Performance of a Modified Motor Scale as Applied to Juvenile Onset Huntington's Disease.

, 2019
BACKGROUND Huntington's disease can present at almost any age but traditionally, those with an onset ≤20 years are described as having juvenile onset Huntington's disease (JOHD).
Barker, Roger A, Landwehrmyer, G Bernhard, Nopoulos, Peggy, Burgunder, Jean-Marc, Horton, Mike C, Nance, Martha, Squitieri, Ferdinando, Quarrell, Oliver   +7 more
core   +1 more source

Huntingtin as an Actin Organizer: Structural and Functional Insights

Cytoskeleton, EarlyView.
M. Capizzi, S. Humbert
wiley   +1 more source

Sex Differences in Fall Frequency, Risk Factors, and Outcomes in Parkinson's Disease: A Cross‐Sectional Analysis

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Female sex is an independent fall risk factor in Parkinson's disease (PD), yet sex‐specific fall patterns remain unclear. Objectives To compare sex‐specific fall risk and outcomes across PD, prodromal alpha‐synucleinopathy (PAS), and healthy controls (HC); estimate fall frequency across PD progression; and assess how sex modifies ...
Joaquin A. Vizcarra, Kat Hefter, David‐Erick Lafontant, Michael Tran Duong, Ashkan Ertefaie, Brian Litt, Dani S. Bassett, Andrew Siderowf, The Parkinson's Progression Markers Initiative, Kenneth Marek, Caroline Tanner, Tanya Simuni, Andrew Siderowf, Douglas Galasko, Lana Chahine, Christopher Coffey, Kalpana Merchant, Kathleen Poston, Roseanne Dobkin, Tatiana Foroud, Brit Mollenhauer, Dan Weintraub, Ethan Brown, Karl Kieburtz, Mark Frasier, Todd Sherer, Sohini Chowdhury, Roy Alcalay, Aleksandar Videnovic, Duygu Tosun‐Turgut, Werner Poewe, Susan Bressman, Jan Hammer, Raymond James, Ekemini Riley, John Seibyl, Leslie Shaw, David Standaert, Sneha Mantri, Nabila Dahodwala, Michael Schwarzschild, Connie Marras, Hubert Fernandez, Ira Shoulson, Helen Rowbotham, Paola Casalin, Claudia Trenkwalder, Todd Sherer, Sohini Chowdhury, Mark Frasier, Jamie Eberling, Katie Kopil, Alyssa O’Grady, Maggie McGuire Kuhl, Leslie Kirsch, Tawny Willson, Emily Flagg, Tanya Simuni, Bridget McMahon, Craig Stanley, Kim Fabrizio, Dixie Ecklund, Trevis Huff, Tatiana Foroud, Laura Heathers, Christopher Hobbick, Gena Antonopoulos, John Seibyl, Kathleen Poston, Christopher Coffey, Chelsea Caspell‐Garcia, Michael Brumm, Bioinformatics Core, Arthur Toga, Karen Crawford, Tatiana Foroud, Jan Hamer, Brit Mollenhauer, Doug Galasko, Kalpana Merchant, Andrew Singleton, Tatiana Foroud, Thomas Montine, Caroline Tanner, Carlie Tanner, Ethan Brown, Lana Chahine, Roseann Dobkin, Monica Korell, Charles Adler, Roy Alcalay, Amy Amara, Paolo Barone, Bastiaan Bloem, Kathrin Brockmann, Norbert Brüggemann, Lana Chahine, Kelvin Chou, Nabila Dahodwala, Alberto Espay, Stewart Factor, Hubert Fernandez, Michelle Fullard, Douglas Galasko, Penelope Hogarth, Shu‐Ching Hu, Michele Hu, Stuart Isaacson, Christine Klein, Rejko Krueger, Mark Lew, Zoltan Mari, Connie Marras, Maria Jose Martí, Nikolaus McFarland, Tiago Mestre, Brit Mollenhauer, Emile Moukheiber, Alastair Noyce, Wolfgang Oertel, Njideka Okubadejo, Sarah O’Shea, Rajesh Pahwa, Nicola Pavese, Werner Poewe, Ron Postuma, Giulietta Riboldi, Lauren Ruffrage, Javier Ruiz Martinez, David Russell, Marie H. Saint‐Hilaire, Neil Santos, Wesley Schlett, Ruth Schneider, Holly Shill, David Shprecher, Tanya Simuni, David Standaert, Leonidas Stefanis, Yen Tai, Caroline Tanner, Arjun Tarakad, Eduardo Tolosa, Aleksandar Videnovic, Susan Ainscough, Courtney Blair, Erica Botting, Isabella Chung, Kelly Clark, Ioana Croitoru, Kelly DeLano, Iris Egner, Fahrial Esha, May Eshel, Frank Ferrari, Victoria Kate Foster, Alicia Garrido, Madita. Grümmer, Bethzaida Herrera, Ella Hilt, Chloe Huntzinger, Raymond James, Farah Kausar, Christos Koros, Yara Krasowski, Dustin Le, Ying Liu, Taina M. Marques, Helen Mejia Santana, Sherri Mosovsky, Jennifer Mule, Philip Ng, Lauren O’Brien, Abiola Ogunleye, Oluwadamilola Ojo, Obi Onyinanya, Lisbeth Pennente, Romina Perrotti, Michael Pileggi, Ashwini Ramachandran, Deborah Raymond, Jamil Razzaque, Shawna Reddie, Kori Ribb, Kyle Rizer, Janelle Rodriguez, Stephanie Roman, Clarissa Sanchez, Cristina Simonet, Anisha Singh, Elisabeth Sittig, Angela Stovall, Bobbie Stubbeman, Alejandra Valenzuela, Catherine Wandell, Diana Willeke, Karen Williams, Dilinuer Wubuli   +197 more
wiley   +1 more source

β-Defensin Genomic Copy Number Does Not Influence the Age of Onset in Huntington's Disease

, 2013
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by the abnormal expansion of a CAG triplet repeat tract in the huntingtin gene. While the length of this CAG expansion is the major determinant of the age of onset (AO),
ROMANO, SILVIA, Giorgini, Flaviano, Orth, Michael, Outeiro, Tiago F, Vittori, Angelica, Registry, investigators of the European Huntington’s Disease Network, Roos, Raymund A. C, Hollox, Edward J   +7 more
core   +1 more source

A Randomized, Double-blind, Placebo-Controlled Study of Latrepirdine in Patients With Mild to Moderate Huntington Disease. [PDF]

, 2013
BACKGROUND Latrepirdine is an orally administered experimental small molecule that was initially developed as an antihistamine and subsequently was shown to stabilize mitochondrial membranes and function, which might be impaired in Huntington disease ...
SALVATORE, ELENA, SACCA', FRANCESCO, HORIZON Investigators of the Huntington Disease Study Group, DE MICHELE, GIUSEPPE, European Huntington's Disease Network   +4 more
core   +1 more source

Cognitive decline in Huntington's disease expansion gene carriers

, 2017
In Huntington's Disease (HD) cognitive decline can occur before unequivocal motor signs become apparent. As cognitive decline often starts early in the course of the disease and has a progressive nature over time, cognition can be regarded as a key ...
De Tommaso, Marina, Dumas, E. M, Reijntjes, R. H. A. M., Cormio, C., Baake, V., Thompson, J. C., REGISTRY Investigators of the European Huntington's Disease Network, Difruscolo, O., Serpino, C., Sciruicchio, V., Franco, G.   +10 more
core   +2 more sources

Precision Medicine in Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders: An Update on Emerging Treatments

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Neurodegeneration with Brain Iron Accumulation (NBIA) is a heterogeneous group of heritable, mostly recessive, progressive neurodegenerative diseases characterized by iron deposition in the basal ganglia and brainstem. There are no solid global epidemiological data on prevalence and incidence of NBIA subtypes, but registry data and ...
Susanne A. Schneider, Divyani Garg, Vassilena Iankova, Thomas Klopstock   +3 more
wiley   +1 more source