Results 51 to 60 of about 9,225,670 (325)

INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Chikashi Yano, Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Takahiro Hobara, Risa Nagatomo, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Chika Matsuoka, Toru Yamashita, Takashi Kimura, Ayako Miyazaki, Chinatsu Kinjo, Kenji Yokochi, Nanami Yamanaka, Nozomu Matsuda, Tomoki Suichi, Yoshiyuki Hanaoka, Haruka Kojima, Kenichi Todo, Hiroyuki Ishiura, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +27 more
wiley   +1 more source

SIRT1 Activating compounds reduce oxidative stress mediated neuronal loss in viral induced CNS demyelinating disease

Acta Neuropathologica Communications, 2014
BackgroundMultiple sclerosis (MS) is characterized by central nervous system inflammation and demyelination, and increasing evidence demonstrates significant neuronal damage also occurs and is associated with permanent functional impairment.
Reas S. Khan, Kimberly E. Dine, J. Das Sarma, K. Shindler   +3 more
semanticscholar   +1 more source

Comparison of MRI Lesion Evolution in Different Central Nervous System Demyelinating Disorders

Neurology, 2021
Background and Objective There are few studies comparing lesion evolution across different CNS demyelinating diseases, yet knowledge of this may be important for diagnosis and understanding differences in disease pathogenesis. We sought to compare MRI T2
E. Sechi, K. Krecke, S. Messina, Marina Buciuc, S. Pittock, John J. Chen, B. Weinshenker, A. S. Lopez-Chiriboga, C. Lucchinetti, Nicholas L. Zalewski, J. Tillema, Amy C. Kunchok, S. Monaco, P. Morris, J. Fryer, Adam Nguyen, T. Greenwood, Stephanie B Syc-Mazurek, B. Keegan, E. Flanagan   +19 more
semanticscholar   +1 more source

Quantitative Assessment of Upper Limb Ataxia Using a Virtual Reality‐Based Evaluation System

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cerebellar ataxia impairs coordination and balance, reducing quality of life. Conventional clinical scales, including the Scale for the Assessment and Rating of Ataxia (SARA) and the International Cooperative Ataxia Rating Scale (ICARS), are widely used to assess ataxia but are limited by subjectivity and inter‐rater variability ...
Masayuki Sato, Takayuki Abe, Sho Aoki, Setsuki Tsukagoshi, Yasushi Yuminaka, Yoshio Ikeda   +5 more
wiley   +1 more source

Demyelinating neuropathy as the initial presentation of familial E200K Creutzfeldt–Jakob disease in two patients

Annals of Clinical and Translational Neurology
Objective To describe peripheral neuropathy associated with familial Creutzfeldt‐Jakob disease. Methods We report two unrelated patients with genetic Creutzfeldt–Jakob disease with demyelinating peripheral neuropathy as initial presentation, with a ...
Cécile Delorme, Antoine Pégat, Julian Theuriet, Jean‐Philippe Brandel, Emmanuel Roze, Karine Viala, Julie Zyss, Stéphane Thobois, Anthony Fourier, Emilien Bernard, Juliette Svahn, Chloé Laurencin, Paul Jaulent, Christophe Vandendries, Isabelle Quadrio, Virginie Desestret, David Meyronet, Thierry Maisonobe, Stéphane Haïk, Danielle Seilhean   +19 more
doaj   +1 more source

COVID-19 and the risk of CNS demyelinating diseases: A systematic review

Frontiers in Neurology, 2022
BackgroundViral infections are a proposed possible cause of inflammatory central nervous system (CNS) demyelinating diseases, including multiple sclerosis (MS), neuromyelitis optica spectrum disorder (NMOSD), and myelin oligodendrocyte glycoprotein ...
Itay Lotan, Shuhei Nishiyama, Giovanna S. Manzano, Melissa Lydston, Michael Levy   +4 more
doaj   +1 more source

The virology of demyelinating diseases [PDF]

Annals of Neurology, 1994
Infectious agents have been postulated as causes of multiple sclerosis for over a century. The possible role of a virus or viruses is supported by data that (1) a childhood exposure is involved and "viral" infections may precipitate exacerbations of disease, (2) experimental infections in animals and natural infections in humans can cause diseases with
openaire   +3 more sources

Characterization of Oligodendroglial Populations in Mouse Demyelinating Disease Using Flow Cytometry: Clues for MS Pathogenesis

PLoS ONE, 2014
Characterizing and enumerating cells of the oligodendrocyte lineage (OLCs) is crucial for understanding demyelination and therapeutic benefit in models of demyelinating disease in the central nervous system. Here we describe a novel method for the rapid,
Andrew P Robinson, J. M. Rodgers, G. Goings, S. Miller   +3 more
semanticscholar   +1 more source

Existing Evidence for the Repurposing of PARP-1 Inhibitors in Rare Demyelinating Diseases

Cancers, 2022
Simple Summary Poly (ADP-ribose) polymerase-1 (PARP-1) inhibitors are successful cancer therapeutics that impair DNA repair machinery, leading to an accumulation of DNA damage and consequently cell death.
Marianna Mekhaeil, K. Dev, Melissa J. Conroy   +2 more
semanticscholar   +1 more source

Nationwide Characterization of MFN2‐Related CMT in 176 Japanese Patients: Clinical and Genetic Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Chikashi Yano, Takahiro Hobara, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +13 more
wiley   +1 more source