Results 101 to 110 of about 62,463 (295)

Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder

, 2017
The inherited optic neuropathies comprise a group of genetically heterogeneous disorders causing optic nerve dysfunction. In some cases, optic neuropathies are associated with cerebellar atrophy which mainly affects the vermis.
Hellebrekers, D. M. E. I., Boesten, I, Mulder-den Hartog, N. M., Hellebrekers, D, Gerards, M., Coo, IFM, Smeets, HJM, den Hartog, NM (Elvira), Smeets, H. J. M., de Coo, I. F. M., Gerards, M, Nguyen, M., Nguyen, M, Boesten, I.   +13 more
core   +1 more source

OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology

Neurobiology of Disease, 2016
Mutations in the Optic Atrophy 1 gene (OPA1) were first identified in 2000 as the main cause of Dominant Optic Atrophy, a disease specifically affecting the retinal ganglion cells and the optic nerve.
Juan Manuel Chao de la Barca, Delphine Prunier-Mirebeau, Patrizia Amati-Bonneau, Marc Ferré, Emmanuelle Sarzi, Céline Bris, Stéphanie Leruez, Arnaud Chevrollier, Valérie Desquiret-Dumas, Naïg Gueguen, Christophe Verny, Christian Hamel, Dan Miléa, Vincent Procaccio, Dominique Bonneau, Guy Lenaers, Pascal Reynier   +16 more
doaj   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

[18F]Fluorodeprenyl‐D2 PET as a Tool to Monitor Disease Activity in GAD65‐Ab Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate [18F]fluorodeprenyl‐D2 ([18F]F‐DED) positron‐emission tomography (PET) imaging as a biomarker of disease activity in autoimmune encephalitis (AIE) associated with glutamic acid decarboxylase 65 (GAD65) antibodies. Methods [18F]F‐DED PET was performed in 25 GAD65‐AIE patients and 8 controls using dynamic (0–60 min) and ...
Julia S. Dorneich, Jonathan A. Gernert, Hanna Zimmermann, Lisa Tagnin, Marianthi Zeinaki, Laura Sanzo, Letizia Vogler, Elisabeth Kaufmann, Justina Dargvainiene, Frank Leypoldt, Gérard N. Bischof, Robert Perneczky, Boris‐Stephan Rauchmann, Simon Lindner, Günter U. Höglinger, Rudolf A. Werner, Martin Kerschensteiner, Tania Kümpfel, Matthias Brendel, Franziska S. Thaler   +19 more
wiley   +1 more source

GAD65 Antibody ELISA With Extended Reportable Range: Validation and Guidance for Neurological Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To (1) validate GAD65‐ELISA detection and quantification for type 1 diabetes mellitus and autoimmune neurological diagnoses, (2) correlate ELISA results (reference range < 5 IU/mL) with established radioimmunoprecipitation assay (RIA; ≤ 0.02 nmol/L), and (3) define ELISA clinical utility and pitfalls.
Andrew McKeon, Dana Olofson, Diana Anissian, Divyanshu Dubey, Eoin P. Flanagan, Max C. Herman, Sarosh R. Irani, Daniel H. Lachance, Maria A. Willrich, Sean Pittock, John R. Mills, Anastasia Zekeridou   +11 more
wiley   +1 more source

A Missense Mutation in OPA1 Causes Dominant Optic Atrophy in a Chinese Family

Journal of Ophthalmology, 2019
Background. To investigate the genetic causes and clinical characteristics of dominant optic atrophy (DOA) in a Chinese family. Methods. A 5-generation pedigree of 35 family members including 12 individuals affected with DOA was recruited from Shenzhen ...
Shaoyi Mei, Xiaosheng Huang, Lin Cheng, Shiming Peng, Tianhui Zhu, Liang Chen, Yan Wang, Jun Zhao   +7 more
doaj   +1 more source

An autosomal dominant optic atrophy: Kjer type [PDF]

Revista Brasileira de Oftalmologia
We present a case of an autosomal dominant optic neuropathy, known as Kjer's disease. The condition can manifest since childhood, presenting with bilateral symmetric optic atrophy and progressive vision loss.
Flavio Mac Cord Medina, Natália Carneiro de Freitas   +1 more
doaj   +1 more source

Three Types of Optic Disc Edema in Optic Nerve Sheath Meningioma

, 2021
ONSM (optic nerve sheath meningioma) accounts for approximately 2% of all orbital tumors and represents around 1-2% of all meningiomas. Classical triad of progressive visual loss, optic nerve atrophy, and presence of optociliary shunt vessels is ...
Susiani Intan; Shannon Beres; Heather Moss; Joyce Liao
core  

First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness [PDF]

, 2019
Recessively inherited optic neuropathy has been an elusive entity for a long time. Currently, a few causative genes have been described,1-6 associated with a spectrum of isolated or syndromic optic atrophy.
Liguori R., La Morgia C., Caporali L., Tagliavini F., Barboni P., Palombo F., Carbonelli M., Carelli V.   +7 more
core   +1 more source

High-fat diet causes mitochondrial damage and downregulation of mitofusin-2 and optic atrophy-1 in multiple organs. [PDF]

J Clin Biochem Nutr, 2023
Zheng P, Ma W, Gu Y, Wu H, Bian Z, Liu N, Yang D, Chen X.   +7 more
europepmc   +1 more source