Results 41 to 50 of about 2,320 (116)

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

The pathogenic exon 1 HTT protein is produced by incomplete splicing in Huntington’s disease patients

Scientific Reports, 2017
We have previously shown that exon 1 of the huntingtin gene does not always splice to exon 2 resulting in the production of a small polyadenylated mRNA (HTTexon1) that encodes the highly pathogenic exon 1 HTT protein.
Andreas Neueder, Christian Landles, Rhia Ghosh, David Howland, Richard H. Myers, Richard L. M. Faull, Sarah J. Tabrizi, Gillian P. Bates   +7 more
doaj   +1 more source

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

ATXN8OS Intermediate Expansion Acts as a Genetic Modifier in Spinocerebellar Ataxia Type 48 (SCA48/STUB1)

Movement Disorders, EarlyView.
Abstract Background Association between monoallelic STUB1 variant and expanded ATXN8OS alleles was recently reported, suggesting a pathogenic interaction that may influence spinocerebellar ataxia type 48 (SCA48) phenotype. Objectives We investigated the frequency and clinical impact of ATXN8OS in a large cohort of STUB1 carriers compared to individuals
Charlotte Mouraux, Jean‐Loup Méreaux, Claire‐Sophie Davoine, Léna Guillot Noel, Emilien Petit, Quentin Thomas, Adem Nasraoui, Anna Heinzmann, Claire Ewenczyk, Alexis Brice, Alexandra Durr, Giulia Coarelli   +11 more
wiley   +1 more source

Striatal and extrastriatal atrophy in Huntington's disease and its relationship with length of the CAG repeat

Brazilian Journal of Medical and Biological Research, 2006
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder that affects the striatum most severely. However, except for juvenile forms, relative preservation of the cerebellum has been reported.
H.H. Ruocco, I. Lopes-Cendes, L.M. Li, M. Santos-Silva, F. Cendes   +4 more
doaj   +1 more source

The Timely Rise of a Teenage Reformer: Youth Revolt, Feminism and the Struggle for a ‘New Sexual Morality’ at the Dawn of the Spanish Second Republic

Gender &History, EarlyView.
ABSTRACT The contributions of propagandist and writer Hildegart (1914–1933) to Spanish cultural life are overshadowed by accounts of her unusual upbringing and violent death. This article examines the conditions that enabled the teenager to become a prominent voice for feminism and sexual reform on the eve of Spain's Second Republic (1931–1939).
Micaela Pattison
wiley   +1 more source

Iloperidone treatment mitigates the Juvenile Huntington's Disease phenotype possibly via Sigma‐1 Receptor Modulation

The FEBS Journal, EarlyView.
We investigated the potential of iloperidone as an activator of Sigma‐1 receptor (S1R) neuroprotective function in juvenile Huntington's disease (jHD). We tested iloperidone on cortical neurons differentiated from patient‐derived iPSCs, demonstrating that it acts as a S1R agonist, decreasing apoptosis, huntingtin aggregation, and oxidative stress ...
Ersilia Fornetti, Gaia Galluzzi, Mario Frezzini, Cécile Exertier, Vittorio Brufani, Gianni Colotti, Giancarlo Ruocco, Jessica Rosati, Angelo Luigi Vescovi, Daniele Narzi, Ilaria Genovese, Andrea Ilari   +11 more
wiley   +1 more source

Mapping the Young‐Onset Dementia Research in the Asia‐Pacific Region: A Scoping Review

Asia-Pacific Psychiatry, Volume 18, Issue 3, September 2026.
ABSTRACT Young‐onset dementia (YOD), with symptom onset before 65, is an area of increasing public health importance. YOD research in Asia‐Pacific remains under‐represented in the global YOD research landscape. This scoping review aimed to comprehensively map the existing YOD literature from Asia‐Pacific and provide an overview of the research topics ...
Gia Tan, Gary Cheung, Samantha M. Loi, Etuini Ma'u, Campbell Le Heron, Monica Cations, Nick Garrett, Megan Eustace, So Young Moon, Eun‐Joo Kim, Kok Pin Ng, Adeline S. L. Ng, Huali Wang, Isabelle Burke, Kenny Ong, Brigid Ryan   +15 more
wiley   +1 more source

Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease

Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1206-1221, June 2026.
ABSTRACT Objective To determine the concentration of glial fibrillary acidic protein (GFAP) in cerebrospinal fluid (CSF) and plasma in Alexander disease (AxD) and whether GFAP levels are predictive of disease phenotypes. Methods CSF and plasma were collected (longitudinally when available) from AxD participants and non‐AxD controls.
Amy T. Waldman, Asako Takanohashi, Joshua Y. Joung, Geraldine W. Liu, Kaley Arnold, Amy Pizzino, Walter Faig, Sarah Woidill, Sona Narula, Adeline L. Vanderver   +9 more
wiley   +1 more source

The psychological experience of living at risk of an autosomal dominant neurological condition: A scoping review

Alzheimer's &Dementia: Behavior &Socioeconomics of Aging, Volume 2, Issue 2, June 2026.
Abstract As our understanding of genetic risk and the availability of genetic testing increases, consideration of the psychological impact of living at risk for an autosomal dominant neurological condition (ADNC) becomes more pertinent. A systematic search of PsycINFO, MEDLINE, and Web of Science was run to identify studies exploring the psychological ...
Rhianna Brien, Simon Mead, Marc Tibber, Edgar Chan   +3 more
wiley   +1 more source