Results 21 to 30 of about 186,376 (313)

Longitudinal Assessment Using Optical Coherence Tomography in Patients with Friedreich’s Ataxia

Tomography, 2021
Ocular abnormalities occur frequently in Friedreich’s ataxia (FRDA), although visual symptoms are not always reported. We evaluated a cohort of patients with FRDA to characterise the clinical phenotype and optic nerve findings as detected with optical ...
Petya Bogdanova-Mihaylova, Helena Maria Plapp, Hongying Chen, Anne Early, Lorraine Cassidy, Richard A. Walsh, Sinéad M. Murphy   +6 more
doaj   +1 more source

Ataxia Telangiectasia [PDF]

New England Journal of Medicine, 1970
The clinical history and pathological findings in a case of ataxia‐telangiectasia are reported.Clinically the case showed characteristic neurological manifestations and telangiectases with frequent respiratory infections. Absence of IgA immunoglobulins was demonstrated.
R, Hong, A J, Ammann
  +7 more sources

The ataxia (axJ) mutation causes abnormal GABAA receptor turnover in mice [PDF]

, 2009
Ataxia represents a pathological coordination failure that often involves functional disturbances in cerebellar circuits. Purkinje cells (PCs) characterize the only output neurons of the cerebellar cortex and critically participate in regulating motor ...
Kneussel Matthias, Loebrich, S, Sven Loebrich, Hevers, Wulf, Michaela Schweizer, Eilers, Jens, Đikić, Ivan, Corinna Lappe-Siefke, Wilson, Scott M., Scott M Wilson, Waidmann Oliver B., Fehr Susanne, Schweizer, M, Kneussel, Matthias, Oliver B Waidmann, Fritschy Jean-Marc, Jean-Marc Fritschy, Wilson, S M, Schweizer Michaela, Jens Eilers, Eilers, J, Fritschy, Jean-Marc, Ivan Dikic, Fritschy, J M, Dikic, I, Schweizer, Michaela, Eilers Jens, Susanne Fehr, Waidmann, O B, Wilson Scott M., Fehr, Susanne, Matthias Kneussel, Fehr, S, Lappe-Siefke, Corinna, Waidmann, Oliver, Dikic Ivan, Loebrich Sven, Hevers Wulf, Lappe-Siefke, C, Hevers, W, Kneussel, M, Löbrich, Sven, Wulf Hevers, Lappe-Siefke Corinna   +43 more
core   +1 more source

Friedreich ataxia patient tissues exhibit increased 5-hydroxymethylcytosine modification and decreased CTCF binding at the FXN locus [PDF]

, 2013
© 2013 Al-Mahdawi et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use,distribution, and reproduction in any medium, provided the original author and source are ...
Pook, MA, Sahar Al-Mahdawi, Mouro Pinto, R, Chiranjeevi Sandi, Sandi Chiranjeevi, Al-Mahdawi, S, Mouro Pinto Ricardo, Al-Mahdawi Sahar, Ricardo Mouro Pinto, Pook Mark A., Mark A Pook, Sandi, C   +11 more
core   +1 more source

Neural substrates of motor and cognitive dysfunctions in SCA2 patients: A network based statistics analysis

NeuroImage: Clinical, 2017
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disease characterized by a progressive cerebellar syndrome, which can be isolated or associated with extracerebellar signs.
G. Olivito, M. Cercignani, M. Lupo, C. Iacobacci, S. Clausi, S. Romano, M. Masciullo, M. Molinari, M. Bozzali, M. Leggio   +9 more
doaj   +1 more source

Friedreich's Ataxia Frequency in a Large Cohort of Genetically Undetermined Ataxia Patients

Frontiers in Neurology, 2021
Background: Patients with suspected genetic ataxia are often tested for Friedreich's ataxia (FRDA) and/or a variety of spinocerebellar ataxias (SCAs). FRDA can present with atypical, late-onset forms and so may be missed in the diagnostic process.
Alexander F. Brown, Michael H. Parkinson, Hector Garcia-Moreno, Ese Mudanohwo, Robyn Labrum, Mary Sweeney, Paola Giunti   +6 more
doaj   +1 more source

Ataxia

Movement Disorders Clinical Practice
Ataxia refers to incoordination that may occur in isolation or as part of many conditions. This article provides a framework for the clinical recognition and treatment of ataxia.The development of genetic techniques, including next-generation sequencing, over the past 30 years has facilitated the characterization of many forms of ataxia, including ...
Katsuki Eguchi, Hiroaki Yaguchi, Ichiro Yabe   +2 more
openaire   +5 more sources

Novel Nrf2-Inducer Prevents Mitochondrial Defects and Oxidative Stress in Friedreich’s Ataxia Models

Frontiers in Cellular Neuroscience, 2018
Friedreich’s Ataxia (FRDA) is an autosomal recessive neurodegenerative disorder, affecting dorsal root ganglia (DRG), cerebellar dentate nuclei and heart. It is caused by a GAA repeat expansion mutation within the frataxin gene (FXN).
Rosella Abeti, Annalisa Baccaro, Noemi Esteras, Paola Giunti   +3 more
doaj   +1 more source

Friedreich Ataxia [PDF]

Journal of the Neurological Sciences, 2003
There has been rapid progress in the understanding of several aspects of Friedreich's ataxia (FA) since the gene mutation was identified in 1996. At the clinical level, now it is possible to confirm that the majority of patients fullfilling clinical criteria for classic FA have the FA gene mutation but some do not, indicating genetic heterogeneity ...
openaire   +10 more sources

MutLα heterodimers modify the molecular phenotype of Friedreich ataxia [PDF]

, 2014
This article has been made available through the Brunel Open Access Publishing Fund.Background: Friedreich ataxia (FRDA), the most common autosomal recessive ataxia disorder, is caused by a dynamic GAA repeat expansion mutation within intron 1 of FXN ...
Anjomani-Virmouni, S, Ezzatizadeh, V, Madhavi Sandi, Al-Mahdawi, S, Al-Mahdawi Sahar, Anjomani-Virmouni Sara, Vahid Ezzatizadeh, Sara Anjomani-Virmouni, Sandi, C, Sandi Madhavi, Sandi, M, Pook, MA, Sahar Al-Mahdawi, Chiranjeevi Sandi, Sandi Chiranjeevi, Ezzatizadeh Vahid, Pook Mark A., Mark A Pook   +17 more
core   +1 more source