Results 91 to 100 of about 37,609 (272)

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

On the importance of including both sexes in animal studies – insights from home‐cage monitoring

Biological Reviews, EarlyView.
ABSTRACT A review of behavioural studies using home‐cage monitoring (HCM) systems revealed that over 61% of studies used only male subjects, with only 24% including both sexes, despite evidence of substantial behavioural differences between male and female animals. This bias could influence the outcomes of biomedical research.
Maša Čater, Adam Dušek, Aleksandra Bartelik, Silvia Mandillo, Elisabetta Golini, Mara Rigamonti, Rasneer Sonia Bains, Hamish Forrest, Marion Rivalan, Melissa Long, Anna Kiryk, Lars Lewejohann, Nuno Henrique Franco   +12 more
wiley   +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

Discrepancies in reporting the CAG repeat lengths for Huntington's disease.

, 2012
Huntington's disease results from a CAG repeat expansion within the Huntingtin gene; this is measured routinely in diagnostic laboratories. The European Huntington's Disease Network REGISTRY project centrally measures CAG repeat lengths on fresh samples;
Quarrel O. W., Kline M., Ramos Arroyo M., Landwehrmeyer G. B., CAPELLARI, SABINA, Dumoulin C., European Huntington's Disease Network, Biunno I., CORTELLI, PIETRO, Bauer P., O'Donovan K., Handley O., GALLASSI, ROBERTO   +12 more
core   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Utilizing Sertoli Cell Transplantation as a Therapeutic Technique for the Management of Neurodegenerative Diseases [PDF]

Archives of Razi Institute
Neurodegenerative diseases (NDs) such as, Alzheimer's disease (AD), Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS), and Huntington's disease (HD), are defined by aberrant protein accumulation, brain atrophy, and gradual decline of neuronal
Hosyin Ahmady, Mahsa Afrand, Monireh Motaqi, Gholam Hossein Meftahi   +3 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

Predicting the Risk of Huntington's Disease with Multiple Longitudinal Biomarkers.

, 2019
BACKGROUND:Huntington's disease (HD) has gradually become a public health threat, and there is a growing interest in developing prognostic models to predict the time for HD diagnosis.
Li, Fan, PREDICT-HD and ENROLL-HD Investigators of the Huntington Study Group, Li, Kan, Li, Cai, Luo, Sheng   +4 more
core   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 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