Results 71 to 80 of about 62,463 (295)

Diffusion Spectrum Imaging Maps Early Axonal Loss and a Unique Progressive Signal in Neuronal Intranuclear Inclusion Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To delineate specific in vivo white matter pathology in neuronal intranuclear inclusion disease (NIID) using diffusion spectrum imaging (DSI) and define its clinical relevance. Methods DSI was performed on 42 NIID patients and 38 matched controls.
Kaiyan Jiang, Yixiu Pei, Xiaobao Hu, Ying Xiong, Fang Wang, Yanyan Yu, Min Zhu, Dandan Tan, Meihong Zhou, Daojun Hong, Fuqing Zhou   +10 more
wiley   +1 more source

Risk factors associated with progression from papilloedema to optic atrophy: results from a cohort of 113 patients

, 2023
Background The aim of this study was to assess the risk factors for atrophic progression of patients with papilloedema secondary to intracranial hypertension, using optical coherence tomography parameters.Methods A retrospective study was conducted at ...
Ruben Fitoussi, Fitoussi, Ruben, Sarah Demortiere, Kevin Mairot, Mairot, Kevin, Tilsley, Penelope, Stolowy, Natacha, Penelope Tilsley, Ruben Attia, David, Thierry, Thierry David, Attia, Ruben, Audoin, Bertrand, Jan-Patrick Stellman, Natacha Stolowy, Bertrand Audoin, Demortiere, Sarah, Stellman, Jan-Patrick   +17 more
core   +1 more source

Mitochondrial Optic Atrophy (OPA) 1 Processing Is Altered in Response to Neonatal Hypoxic-Ischemic Brain Injury [PDF]

International Journal of Molecular Sciences, 2015
Perturbation of mitochondrial function and subsequent induction of cell death pathways are key hallmarks in neonatal hypoxic-ischemic (HI) injury, both in animal models and in term infants. Mitoprotective therapies therefore offer a new avenue for intervention for the babies who suffer life-long disabilities as a result of birth asphyxia.
Baburamani, Ana A, Hurling, Chloe, Stolp, Helen, Sobotka, Kristina, Gressens, Pierre, Hagberg, Henrik, Thornton, Claire   +6 more
openaire   +4 more sources

Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende, Emilien Petit, Young Woo Park, Sophie Tezenas du Montcel, James M. Joers, Jonathan M. DuBois, H. Moore Arnold, Michal Povazan, Ipek Özdemir, Guita Banan, Romain Valabregue, Philipp Ehses, Jennifer Faber, Chiadi U. Onyike, Peter B. Barker, Jeremy D. Schmahmann, Eva‐Maria Ratai, Sub H. Subramony, Thomas H. Mareci, Khalaf O. Bushara, Henry Paulson, Thomas Klockgether, Alexandra Durr, Tetsuo Ashizawa, Christophe Lenglet, Gülin Öz, READISCA Investigators   +26 more
wiley   +1 more source

Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy

Journal of Cellular and Molecular Medicine, 2017
AbstractOptic Atrophy 1 (OPA1) gene mutations cause diseases ranging from isolated dominant optic atrophy (DOA) to various multisystemic disorders. OPA1, a large GTPase belonging to the dynamin family, is involved in mitochondrial network dynamics.
Mariame Selma Kane, Jennifer Alban, Valérie Desquiret‐Dumas, Naïg Gueguen, Layal Ishak, Marc Ferre, Patrizia Amati‐Bonneau, Vincent Procaccio, Dominique Bonneau, Guy Lenaers, Pascal Reynier, Arnaud Chevrollier   +11 more
openaire   +2 more sources

Air Pollution and the Risk and Progression of Multiple Sclerosis: A Systematic Review and Meta‐Analysis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Purpose Air pollution has been linked to several neurological conditions, including stroke and neurodegenerative diseases. Evidence regarding its association with multiple sclerosis (MS) remains conflicting, limited by small sample sizes. Methods PubMed, Embase, Scopus, and Cochrane controlled register of trials (CENTRAL) were searched on ...
Ahmad A. Toubasi, Thuraya N. Al‐Sayegh
wiley   +1 more source

Data_Sheet_2_Case report: Corneal endothelial degeneration and optic atrophy in dentatorubral-pallidoluysian atrophy quantified by specular micrography and optical coherence tomography.PDF

, 2022
IntroductionDentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disease with various neurological manifestations. Corneal endothelial degeneration and optic atrophy have been reported separately; however, there are no ...
Shunya Takizawa (620402), Hiroto Mitamura (13776448), Wakoh Takahashi (13776454), Yuko Ohnuki (5816081), Kenji Kawai (498351), Yoichi Ohnuki (13776451), Eiichiro Nagata (620396)   +6 more
core   +1 more source

Inhibition of autophagy curtails visual loss in a model of autosomal dominant optic atrophy [PDF]

, 2020
In autosomal dominant optic atrophy (ADOA), caused by mutations in the mitochondrial cristae biogenesis and fusion protein optic atrophy 1 (Opa1), retinal ganglion cell (RGC) dysfunction and visual loss occur by unknown mechanisms.
Naon D., Palikaras K., Zaninello M., Tavernarakis N., Herkenne S., Carelli V., Iwata K., Scorrano L., Semenzato M., Quintana-Cabrera R., Grespi F., Ross-Cisneros F. N., Sadun A. A.   +12 more
core   +1 more source

A Case of Wolfram Syndrome

Journal of Ophthalmic & Vision Research, 2010
Purpose: To report a case of Wolfram syndrome characterized by early onset diabetes mellitus and progressive optic atrophy. Case Report: A 20-year-old male patient with diabetes mellitus type I presented with best corrected visual acuity of 1/10 in both
Gholamali Naderian, Fereshteh Ashtari, Kia Nouri-Mahdavi, Valleh Sajjadi   +3 more
doaj  

PNPT1 Spectrum Disorders: An Underrecognized and Complex Group of Neurometabolic Disorders

Muscles
An 18-year-old man presented with slowly progressive infancy-onset spasticity of the lower limbs and cerebellar ataxia, associated with painless strabismus, intellectual disability, urinary incontinence, bilateral progressive visual loss, and cognitive ...
Paulo Sgobbi, Igor Braga Farias, Paulo de Lima Serrano, Bruno de Mattos Lombardi Badia, Hélvia Bertoldo de Oliveira, Alana Strucker Barbosa, Camila Alves Pereira, Vanessa de Freitas Moreira, Marco Antônio Troccoli Chieia, Adriel Rêgo Barbosa, Pedro Henrique Almeida Fraiman, Vinícius Lopes Braga, Roberta Ismael Lacerda Machado, Sophia Luiz Calegaretti, Isabela Danziato Fernandes, Roberta Correa Ribeiro, Marco Antonio Orsini Neves, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira   +18 more
doaj   +1 more source