Results 111 to 120 of about 4,904,701 (256)

DNA Repair Pathway Variants Are Enriched in Individuals with Biallelic AAGGG CANVAS and RFC1‐Related Disease

Movement Disorders, EarlyView.
Abstract Background Cerebellar ataxia, neuropathy and vestibular are flexia syndrome (CANVAS) and RFC1‐related disease are most commonly caused by biallelic AAGGG repeat expansions in RFC1. The high population frequency of this expansion compared to the frequency of CANVAS suggests incomplete penetrance.
Xuemin Wang, Liam G. Fearnley, Kayli C. Davies, Penny Snell, Stuart Lee, Victoria E. Jackson, Justin Read, Michael Milton, Ian H. Harding, Martin B. Delatycki, David J. Szmulewicz, Paul J. Lockhart, Melanie Bahlo, Haloom Rafehi   +13 more
wiley   +1 more source

Early Longitudinal Brain Network Changes in Huntington's Disease Before Clinical Motor Onset

Movement Disorders, EarlyView.
Abstract Background Longitudinal studies of seed‐based functional connectivity (SBFC) in young adult Huntington's disease gene‐expanded (HDGE) individuals are rare, and none, to our knowledge, have examined adult cohorts decades from predicted clinical motor diagnosis.
Michela Leocadi, Nicola Z. Hobbs, Mena Farag, Michael J. Murphy, Kate Fayer, Olivia Thackeray, Harry Knights, James B. Rowe, Trevor W. Robbins, Barbara J. Sahakian, Geraint Rees, Rachael I. Scahill, Sarah J. Tabrizi, Christelle Langley   +13 more
wiley   +1 more source

Consolidation deficits in episodic memory define distinct clinical and neurodegenerative profiles in Huntington’s disease

NeuroImage: Clinical
Background: Huntington’s disease (HD) is primarily associated with executive dysfunction, but episodic memory impairment is also present. Traditionally, these memory deficits have been attributed to retrieval difficulties linked to fronto-striatal ...
Saul Martinez-Horta, Angela Quevedo-García, Arnau Puig-Davi, Frederic Sampedro, Javier Oltra-Cucarella, Jesús Pérez-Pérez, Carla Franch-Martí, Gonzalo Olmedo-Saura, Elisa Rivas-Asensio, Anna Vazquez-Oliver, Laura Pérez-Carasol, Andrea Horta-Barba, Javier Pagonabarraga, Jaime Kulisevsky   +13 more
doaj   +1 more source

A Schizophrenia‐Spectrum Presentation with Panda Sign: Huntington's Disease Confirmed, Wilson Disease Excluded

Movement Disorders Clinical Practice, EarlyView.
Eva‐Maria Tsapakis, Georgia Zafeiridou, Elizabeth Psoma, Angelos Giannoutsos, Andreas Kiryttopoulos, Konstantinos N. Fountoulakis   +5 more
wiley   +1 more source

Expanded ATXN3 CAG Repeat is Stable in Human Purkinje Cells

Movement Disorders, EarlyView.
Abstract Background Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder caused by an abnormally long polyglutamine‐encoding CAG repeat in the ATXN3 gene. Objectives We aimed to determine whether somatic expansion of the mutant ATXN3 (mATXN3) CAG repeat is present in the output cell of the cerebellar cortex, the Purkinje cell (PC), in ...
Hasnahana Chetia, Laura Kus, Erika Sipos, Nathaniel Heintz, Kert Mätlik   +4 more
wiley   +1 more source

Plasma Lipid Remodeling across Preclinical Burden, Disease Onset, and Early Motor Severity in Huntington's Disease

Movement Disorders, EarlyView.
Abstract Background and Objectives Huntington's disease (HD) evolves silently for years before motor onset, yet the systemic metabolic alterations accompanying cumulative exposure to mutant huntingtin and disease progression remain poorly understood.
Mohamed Bendimerad, Dominique Bonneau, Clarisse Scherer‐Gagou, Adriana Prundean, Karim Chikh, Oriane Vitalis, Audrey Olivier, Odile Blanchet, Judith Nzoughet‐Kouassi, Christophe Verny, Pascal Reynier, Juan Manuel Chao de la Barca   +11 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

Patient iPSC‐derived astrocytes reveal impaired homeostasis and reactive‐like features in propionic acidemia

The Journal of Pathology, EarlyView.
Abstract Propionic acidemia (PA) is a neurometabolic disorder caused by propionyl‐CoA carboxylase deficiency with frequent neurological involvement, yet cell‐type‐specific mechanisms remain poorly defined. We established human induced pluripotent stem cell (iPSC)‐derived astrocytes (iAs) from patients harboring PCCA or PCCB mutations and investigated ...
Irene González‐Garnacho, Mar Álvarez, Francisco Zafra, Pilar Rodríguez‐Pombo, Lourdes R Desviat, Eva Richard   +5 more
wiley   +1 more source

Huntington’s Disease Quality of Life Battery for Carers--Short Form

, 2019
The Huntington’s Disease Quality of Life Battery for Carers--Short Form (HDQoL-Cs; Aubeeluck et al., 2019) was adapted from the Huntington’s Disease Quality of Life Battery for Carers (HDQoL-C; Aubeeluck & Buchanan, 2005, 2007) to examine the caregiving ...
Alis C. Hughes, Bernhard Landwehrmeyer, Lucienne van der Meer, Aileen K. Ho, Aimee Aubeeluck, Stupple, E., Malcolm B. Schofield   +6 more
core   +1 more source

Time‐Resolved Effects of Cold Atmospheric Plasma on E. coli GW‐AmxH19 Transcriptome and Proteome in an Emulated Wastewater Environment

PROTEOMICS, EarlyView.
ABSTRACT Cold atmospheric plasma (CAP) is effective against a variety of microorganisms. Here, we described effects on an Escherichia coli strain isolated from hospital wastewater caused by treatment with physical plasma. E. coli GW‐AmxH19 was incubated in artificial wastewater and treated for 15 min with CAP.
Jörg Bernhardt, Dominik Schneider, Julia Rielicke, Susanne Sievers, Veronika Hahn, Mechthild Bömeke, Anja Poehlein, Dirk Albrecht, Juergen F. Kolb, Katharina Riedel, Rolf Daniel, Daniela Zühlke   +11 more
wiley   +1 more source