Results 41 to 50 of about 25,975 (129)

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

Spinocerebellar ataxia type 3: subphenotypes in a cohort of brazilian patients

Arquivos de Neuro-Psiquiatria, 2014
Spinocerebellar ataxia type 3 (SCA3) involves cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems with strong phenotypic heterogeneity, that lead us to classify the disorder into different clinical subtypes according to the ...
Adriana Moro, Renato P. Munhoz, Walter O. Arruda, Salmo Raskin, Mariana Moscovich, Hélio A.G. Teive   +5 more
doaj   +1 more source

Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant

BMC Neurology, 2020
Background To investigate the genetic and environmental factors responsible for phenotype variability in a family carrying a novel CACNA1A missense mutation.
Rosaria Nardello, Giorgia Plicato, Giuseppe Donato Mangano, Elena Gennaro, Salvatore Mangano, Filippo Brighina, Vincenzo Raieli, Antonina Fontana   +7 more
doaj   +1 more source

Differences between spinocerebellar ataxias and multiple system atrophy-cerebellar type on proton magnetic resonance spectroscopy. [PDF]

PLoS ONE, 2012
PURPOSE: A broad spectrum of diseases can manifest cerebellar ataxia. In this study, we investigated whether proton magnetic resonance spectroscopy (MRS) may help differentiate spinocerebellar ataxias (SCA) from multiple systemic atrophy- cerebellar type
Jiing-Feng Lirng, Po-Shan Wang, Hung-Chieh Chen, Bing-Wen Soong, Wan Yuo Guo, Hsiu-Mei Wu, Cheng-Yen Chang   +6 more
doaj   +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

TOP1MT rs2293925 is an enhancer‐active regulatory SNP that shapes mitochondrial R‐loop dynamics

The FEBS Journal, EarlyView.
This study shows how a common genetic variant of mitochondrial topoisomerase 1 (TOP1MT rs2293925) can influence mitochondrial gene regulation, DNA topology, and formation of noncanonical nucleic acid structures such as R‐loops. By linking this enhancer‐active variant to mitochondrial nucleic acid stress in cellular contexts relevant to amyotrophic ...
Dóra Varga, Zsolt Ráduly, Beáta Boros‐Oláh, Éva Nagy, Zsolt Karányi, László Halász, Bálint László Bálint, György Vámosi, Emese Tóth, Péter Bai, Serena Santangelo, Patrizia Bossolasco, Antonia Ratti, Vincent Géli, Yves Pommier, Lóránt Székvölgyi   +15 more
wiley   +1 more source

Gait training with a wearable curara® robot for cerebellar ataxia: a single-arm study

BioMedical Engineering OnLine, 2021
Background Ataxic gait is one of the most common and disabling symptoms in people with degenerative cerebellar ataxia. Intensive and well-coordinated inpatient rehabilitation improves ataxic gait.
Akira Matsushima, Yoichi Maruyama, Noriaki Mizukami, Mikio Tetsuya, Minoru Hashimoto, Kunihiro Yoshida   +5 more
doaj   +1 more source

Epigenetic signatures of attention problems in youth with childhood exposure to family and community violence

Psychiatry and Clinical Neurosciences, EarlyView.
Aim The link between violence‐related epigenetic changes and attentional problems (APs) is still not well understood. This article examines if exposure to family and community violence during childhood and adolescence may shape DNA methylation patterns associated with attention in youth.
Renata Queiroz Ramos, Adriane Feijó Evangelista, Cosme Marcelo Furtado Passos da Silva, Fernanda Serpeloni, Joviana Quintes Avanci, Natasha Reis Lacerda, Simone Gonçalves de Assis   +6 more
wiley   +1 more source

Cardiovascular Exercise Drives Neuroprotection in a Mouse Model of Spinocerebellar Ataxia 1 Via Rescue of Aberrant Splicing

Annals of Neurology, Volume 100, Issue 4, Page 850-866, October 2026.
Objective Spinocerebellar ataxia 1 (SCA1) is a fatal hereditary neurodegenerative disorder with no approved therapies, and gene‐targeting strategies have thus far failed in clinical trials. Exercise remains the only intervention shown to provide clinical benefit in patients with spinocerebellar ataxias (SCAs), yet the underlying mechanisms remain ...
Isabel Soto, Michael Bonomo, Brianna S. Nelthrope, Benjamin D. Carr, Emma Palmer, Mariana Sierra, Ilkim Erturk, David Peppercorn, Eleonor Cox, Tiare K. Vasconcellos, Henry L. Paulson, Hannah K. Shorrock, Sharan R. Srinivasan   +12 more
wiley   +1 more source

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
A multidisciplinary strategy that integrates deep phenotyping with expert genetic interpretation substantially increases the likelihood of reaching a diagnosis in adults suspected of having an IMD. ABSTRACT Inherited metabolic disorders (IMDs) arise from defects in metabolic pathways essential for normal biochemical function.
Machteld M. Oud, Elise A. Ferreira, Clara D. M. van Karnebeek, Robin Wijngaard, Nicole I. Wolf, Marc Engelen, Mareen Datema, Sacha Ferdinandusse, André B. P. van Kuilenburg, Laura Steinbusch, Saskia N. van der Crabben, Mirjam Langeveld, on behalf of the ZOEMBA Study Group   +12 more
wiley   +1 more source