Results 41 to 50 of about 4,841 (226)

Genetic and Clinical Spectrum of Hereditary Transthyretin Amyloidosis in Brazil. [PDF]

J Peripher Nerv Syst
ABSTRACT Background Transthyretin hereditary amyloidosis (ATTRv) clinical variability has been widely reported, not only across countries and variants but also among families and distinct regions within a single nation. One of the principal challenges in disease management is the accurate determination of age of onset (AOO), which is heterogeneous and ...
Maximiano-Alves G, Lavigne-Moreira C, Simões MV, Galvão AJP, Valicelli FH, Coneglian FS, Vegezzi E, Garibaldi PMM, Tomaselli PJ, Cortese A, Marques W.   +10 more
europepmc   +2 more sources

Multi-type RFC1 repeat expansions as the most common cause of hereditary sensory and autonomic neuropathy

Frontiers in Neurology, 2022
Non-coding repeat expansions within RFC1 and NOTCH2NLC genes have lately been linked to multisystem neurodegenerative diseases, which also shed light on yet undiagnosed patients with inherited peripheral neuropathies.
Jun-Hui Yuan, Yujiro Higuchi, Masahiro Ando, Eiji Matsuura, Akihiro Hashiguchi, Akiko Yoshimura, Tomonori Nakamura, Yusuke Sakiyama, Jun Mitsui, Hiroyuki Ishiura, Shoji Tsuji, Shoji Tsuji, Hiroshi Takashima   +12 more
doaj   +1 more source

The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment [PDF]

, 2022
Aims SPTLC1-related disorder is a late onset sensory-autonomic neuropathy associated with perturbed sphingolipid homeostasis which can be improved by supplementation with the serine palmitoyl-CoA transferase (SPT) substrate, l-serine.
Baratto, Serena, Bellone, Emilia, Brolatti, Noemi, Bruno, Claudio, Bönnemann, Carsten G, Campana, Chiara, Capodivento, Giovanna, Cataldi, Matteo, Debellis, Doriana, Donkervoort, Sandra, Dunn, Teresa M, Fiorillo, Chiara, Gable, Kenneth, Geroldi, Alessandro, Gupta, Sita D, Magri, Stefania, Mandich, Paola, Mohassel, Payam, Morando, Simone, Moroni, Isabella, Nobbio, Lucilla, Nolano, Maria, Panicucci, Chiara, Pedemonte, Marina, Prada, Valeria, Salpietro, Vincenzo, Schenone, Angelo, Siliquini, Sabrina, Taroni, Franco, Tozza, Stefano, Traverso, Monica   +30 more
core   +1 more source

Contralateral force irradiation for the activation of tibialis anterior muscle in carriers of Charcot-Marie-Tooth disease: effect of PNF intervention program [PDF]

, 2009
OBJETIVO: Avaliar a resposta do músculo tibial anterior (TA) após um protocolo de cinco semanas com irradiação contralateral de força através de diagonais de facilitação neuromuscular proprioceptiva (FNP) em pacientes com polineuropatia desmielinizante ...
ARAUJO, João E., FUZARO, Amanda C., HATA, Luciana, MARQUES JÚNIOR, Wilson, MENINGRONI, Paula C., NAKADA, Carolina S.   +5 more
core   +1 more source

Insights Into the Antigenic Repertoire of Unclassified Synaptic Antibodies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We sought to characterize the sixth most common finding in our neuroimmunological laboratory practice (tissue assay‐observed unclassified neural antibodies [UNAs]), combining protein microarray and phage immunoprecipitation sequencing (PhIP‐Seq). Methods Patient specimens (258; 133 serums; 125 CSF) meeting UNA criteria were profiled;
Michael Gilligan, John R. Mills, Paulina Vargas, Naveen K. Paramasivan, Connie E. Lesnick, Eati Basal, Surendra Dasari, James P. Fryer, Shannon R. Hinson, Joseph Laporta, Amy Espinal, Dennis Fitzgerald, Carolina Garcia, Anna E. Morenkova, Paola Pergami, Anna Shah, Andrew Knight, Reghann LaFrance Corey, Vanda A. Lennon, Anastasia Zekeridou, Sean J. Pittock, Divyanshu Dubey, Andrew McKeon   +22 more
wiley   +1 more source

A global in vivo Drosophila RNAi screen identifies a key role of ceramide phosphoethanolamine for glial ensheathment of axons. [PDF]

PLoS Genetics, 2013
Glia are of vital importance for all complex nervous system. One of the many functions of glia is to insulate and provide trophic and metabolic support to axons. Here, using glial-specific RNAi knockdown in Drosophila, we silenced 6930 conserved genes in
Aniket Ghosh, Tina Kling, Nicolas Snaidero, Julio L Sampaio, Andrej Shevchenko, Heribert Gras, Bart Geurten, Martin C Göpfert, Jörg B Schulz, Aaron Voigt, Mikael Simons   +10 more
doaj   +1 more source

TTR Gly83Arg Mutation: Beyond Familial Vitreous Amyloidosis

Frontiers in Neurology, 2022
BackgroundGly83Arg variation is a type of TTR mutation specific to the Chinese population. Patients of hereditary transthyretin amyloidosis (ATTR) with Gly83Arg variation predominantly present with blurred vision and most of these cases are reported by ...
Zhenxian Li, Zhenxian Li, Kang Du, Kang Du, Xujun Chu, Xujun Chu, He Lv, He Lv, Wei Zhang, Wei Zhang, Zhaoxia Wang, Zhaoxia Wang, Yun Yuan, Yun Yuan, Lingchao Meng, Lingchao Meng   +15 more
doaj   +1 more source

A new combined bodian-luxol technique for staining unmyelinated axons in semithin, resin-embedded peripheral nerves: a comparison with electron microscopy. [PDF]

, 1999
peer reviewedaudience: researcher, professionalQuantitation of unmyelinated fibers (UF) in peripheral nerves has classically relied upon ultrastructural morphometry. Because this method is time-consuming, it is not typically performed in routine analysis
Deprez, Manuel, Ceuterick-de Groote, C., Fumal, Arnaud, Reznik, Michel, Martin, J. J.   +4 more
core   +5 more sources

Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a 'treatabolome'. [PDF]

, 2020
BACKGROUND: Hereditary peripheral neuropathies are inherited disorders affecting the peripheral nervous system, including Charcot-Marie-Tooth disease, familial amyloid polyneuropathy and hereditary sensory and motor neuropathies.
Atalaia, Antonio, Horvath, Rita, Jennings, Matthew J, Lochmüller, Angela   +3 more
core   +3 more sources

Mini review: Lipids in Peripheral Nerve Disorders [PDF]

, 2021
Neurons are polarized cells whose fundamental functions are to receive, conduct and transmit signals. In bilateral animals, the nervous system is divided into the central (CNS) and peripheral (PNS) nervous system.
Hornemann, Th
core   +1 more source