Results 41 to 50 of about 2,427 (143)

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

Ghosts From the Past: A Juvenile Onset Huntington's Disease Case From Bahrain

BJPsych Open
Aims Huntington’s disease (HD) is a rare inherited disease in an autosomal dominant pattern, that is most prevalent among Caucasians. Juvenile onset Huntington disease (JHD) is a rare subtype of the disease, defined by presence of the disease by the age
Hanan Husain, Shaima Bucheeri, Feras Alsaif   +2 more
doaj   +1 more source

Genetic epidemiological characteristics of a Hungarian subpopulation of patients with Huntington’s disease

BMC Neurology, 2021
Background Recent advances in therapeutic options may prevent deterioration related to Huntington’s disease (HD), even at the pre-symptomatic stage. Be that as it may, a well-characterized patient population is essential for screening and monitoring ...
Katalin Despotov, Dénes Zádori, Gábor Veres, Katalin Jakab, Gabriella Gárdián, Eszter Tóth, Tamás Zsigmond Kincses, László Vécsei, András Ajtay, Dániel Bereczki, Péter Klivényi   +10 more
doaj   +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

Dominant-Negative Effects of Adult-Onset Huntingtin Mutations Alter the Division of Human Embryonic Stem Cells-Derived Neural Cells. [PDF]

PLoS ONE, 2016
Mutations of the huntingtin protein (HTT) gene underlie both adult-onset and juvenile forms of Huntington's disease (HD). HTT modulates mitotic spindle orientation and cell fate in mouse cortical progenitors from the ventricular zone.
Carla Lopes, Sophie Aubert, Fany Bourgois-Rocha, Monia Barnat, Ana Cristina Rego, Nicole Déglon, Anselme L Perrier, Sandrine Humbert   +7 more
doaj   +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

Effect of Ayurvedic interventions as add-on therapy in Huntington's disease: A case report

Journal of Ayurveda Case Reports, 2022
Huntington's disease (HD) is a rare autosomal dominant neurodegenerative disorder. It is caused due to trinucleotide cytosine-adenine-guanine (CAG) repeat expansion on chromosome 4.
B Malavika, HP Savitha
doaj   +1 more source

From Synapses to Circuits, the Role of KIBRA and the WWC Family in Adaptive Brain Function

Journal of Neurochemistry, Volume 170, Issue 7, July 2026.
KIBRA (WWC1) has been the subject of scientific interest since its initial association with nonpathological variation in human memory performance. This review discusses subsequent work in animal models demonstrating that KIBRA supports memory function.
Lenora J. Volk
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

Brain structure in juvenile-onset Huntington disease [PDF]

Neurology, 2019
To assess brain morphometry in a sample of patients with juvenile-onset Huntington disease (JOHD) and several mouse models of Huntington disease (HD) that likely represent the human JOHD phenotype.Despite sharing the mutation in the Huntingtin gene, adult-onset HD characteristically presents as a hyperkinetic motor disorder, while JOHD typically ...
Alexander Tereshchenko, Vincent Magnotta, Eric Epping, Katherine Mathews, Patricia Espe-Pfeifer, Erin Martin, Jeffrey Dawson, Wenzhen Duan, Peg Nopoulos   +8 more
openaire   +2 more sources