Results 41 to 50 of about 1,408,479 (244)

Dominant optic atrophy: exclusion and fine genetic mapping of the candidate gene, HRY

, 2022
Autosomal dominant optic atrophy (OPA1) maps to Chromosome (Chr) 3q28, and the disease interval has been refined to within 1.4 cM, flanked by the markers D3S3669 and D3S3562.
Payne, Annette M., Votruba, Marcela, Bhattacharya, Shom Shanker, Moore, Anthony T.   +3 more
core   +2 more sources

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

Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants.

PLoS ONE, 2021
Autosomal dominant optic atrophy is one of the most common inherited optic neuropathies. This disease is genetically heterogeneous, but most cases are due to pathogenic variants in the OPA1 gene: depending on the population studied, 32-90% of cases ...
Nicole Weisschuh, Simone Schimpf-Linzenbold, Pascale Mazzola, Sinja Kieninger, Ting Xiao, Ulrich Kellner, Teresa Neuhann, Carina Kelbsch, Felix Tonagel, Helmut Wilhelm, Susanne Kohl, Bernd Wissinger   +11 more
doaj   +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

Autosomal Dominant Optic Atrophy Plus Syndrome [PDF]

, 2023
Background: Dominant optic atrophy (DOA) is the most commonly encountered hereditary optic neuropathy in clinical practice and is the result of a mutation in the OPA1 or OPA3 genes encoding mitochondrial membrane proteins.
Case, Aaron W, OD, Sayomac, Lovelee E, OD, Anderson, Matthew J, OD   +2 more
core   +1 more source

Generation of induced pluripotent stem cells from a patient with hearing loss carrying OPA1 c.1468T>C (p.Cys490Arg) variant

Stem Cell Research, 2022
Pathogenic variants of OPA1 have been associated with autosomal dominant optic atrophy (DOA), leading to optic, auditory, and other sensorineural neuropathies and myopathies.
Yen-Hui Chan, Chang-Han Ho, Cheng-Yu Tsai, Ying-Chang Lu, Pei-Hsuan Lin, Ta-Ching Chen, You-Tzung Chen, Cheng-Yen Huang, Tien-Chen Liu, Chuan-Jen Hsu, Chen-Chi Wu   +10 more
doaj   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Dominant ACO2 mutations are a frequent cause of isolated optic atrophy [PDF]

, 2021
Biallelic mutations in ACO2, encoding the mitochondrial aconitase 2, have been identified in individuals with neurodegenerative syndromes, including infantile cerebellar retinal degeneration and recessive optic neuropathies (locus OPA9).
Weisschuh, Nicole, Gueguen, Naïg, LaMorgia, C, Wissinger, B, LeMao, M, Kane, Selma, Charif, Majida, Ferré, M, Meunier, I, Chupin, S, Kellner, Ulrich, Ferré, Marc, Barth, Magalie, Procaccio, Vincent, Bris, C, Tonagel, F, Lenaers, Guy, Carbonelli, Michele, Khiati, S, Schimpf-Linzenbold, Simone, Chevrollier, Arnaud, Kane, S, Wetterwald, C, Lenaers, G, Desquiret-Dumas, V, Meunier, Isabelle, Yu-Wai-Man, Patrick, Alban, Jennifer, Carelli, Valerio, Gohier, P, Bonneau, D, Goudenège, David, Chupin, Stéphanie, Barth, M, Barakat, Abdelhamid, LaMorgia, Chiara, Reynier, P, Tonagel, Felix, Caporali, L, Elkarhat, Zouhair, Gohier, Philippe, Verny, Christophe, Verny, C, LeMao, Morgane, Desquiret-Dumas, Valerie, Wetterwald, Céline, Schimpf-Linzenbold, S, Chevrollier, A, Tagliavini, Francesca, Wissinger, Bernd, Weisschuh, N, Bris, Céline, Khiati, Salim, Jurkute, Neringa, Tagliavini, F, Jurkute, N, Alban, J, Amati-Bonneau, Patrizia, Carelli, V, Zanlonghi, X, Gueguen, N, Amati-Bonneau, P, Bonneau, Dominique, European ION Group, ., Elkarhat, Z, Goudenège, D, Yu-Wai-Man, P, Carbonelli, M, Charif, M, Caporali, Leonardo, Zanlonghi, Xavier, Reynier, Pascal, Kellner, U, Procaccio, V, Barakat, A   +74 more
core   +2 more sources

Natural history of 15 patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy

Orphanet Journal of Rare Diseases
Objective Autosomal dominant pathogenic variants in WFS1 cause a spectrum of disorders with phenotypic manifestations including low-frequency sensorineural hearing loss, optic nerve atrophy accompanied by low- to mid-frequency sensorineural hearing loss,
Jessica P. Roberts, Abby F. Tang, Daniela Hernandez, Brianna Carman, Liam Oiknine, Cris Brown, Stacy Hurst, Yunshuo Tang, Fumihiko Urano   +8 more
doaj   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source