Results 101 to 110 of about 247,506 (355)

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

A Case of Multiple Sclerosis Presenting as Eight and Half Syndrome. [PDF]

, 2013
Multiple sclerosis (MS) is a chronic disease characterized by inflammation, demyelination, gliosis (scarring), and neuronal loss; the course can be relapsing-remitting or progressive.
Kaushik, M, Mahajan, SK, Raghav, S, Raina, R, Sharathbabu, NM   +4 more
core  

Rapidly progressive atypical parkinsonism associated with frontotemporal lobar degeneration and motor neuron disease [PDF]

, 2010
Objective To report the rare but distinct clinical and neuropathological phenotype of non-familial, rapidly progressive parkinsonism and dementia associated with frontotemporal lobar degeneration with motor neuron disease (FTLD-MND).
de Courten-Myers, Gabrielle M., Espay, Alberto J., Ghetti, Bernardino, Houghton, David J., Litvan, Irene, Murrell, Jill R., Spina, Salvatore   +6 more
core   +1 more source

Patient Selection in Deep Brain Stimulation: A Role for Transcranial Direct Current Stimulation to Enhance the Levodopa Challenge?

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dopaminergic medication and deep brain stimulation (DBS) improve motor symptoms in Parkinson's disease (PD), but levodopa response alone may not predict DBS outcomes. We retrospectively analyzed 19 PD patients undergoing levodopa challenges with and without prior transcranial direct current stimulation targeting a defined PD response network ...
Lukas L. Goede, Patricia Zvarova, Bahne H. Bahners, Andreas Horn   +3 more
wiley   +1 more source

TDP-43 is a ubiquitylation substrate of the SCFcyclin F complex

Neurobiology of Disease, 2022
Background: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterised by the loss of upper and lower motor neurons in the brain and spinal cord.
Stephanie L. Rayner, Shu Yang, Natalie E. Farrawell, Cyril J. Jagaraj, Flora Cheng, Jennilee M. Davidson, Luan Luu, Alberto G. Redondo, Alberto Rábano, Daniel Borrego-Hernández, Julie D. Atkin, Marco Morsch, Ian P. Blair, Justin J. Yerbury, Roger Chung, Albert Lee   +15 more
doaj  

Early exposure to environmental toxin contributes to neuronal vulnerability and axonal pathology in a model of familial ALS [PDF]

, 2011
Adult onset amyotrophic lateral sclerosis (ALS) arises due to progressive and irreversible functional deficits to the central nervous system, specifically the loss of motor neurons.
Christopher A. Shaw, Grace Lee
core   +1 more source

Downregulation of genes with a function in axon outgrowth and synapse formation in motor neurones of the VEGF(delta/delta) mouse model of amyotrophic lateral sclerosis [PDF]

, 2010
Background: Vascular endothelial growth factor (VEGF) is an endothelial cell mitogen that stimulates vasculogenesis. It has also been shown to act as a neurotrophic factor in vitro and in vivo.
Bender, F.L.P., Brockington, A., Carmeliet, P., Claes, F., Heath, P.R., Holden, H., Kasher, P., Lambrechts, D., Sendtner, M., Shaw, P.J.   +9 more
core   +4 more sources

Military Service Roles and ALS Among Veterans: A Matched Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT While military service is an established risk factor for amyotrophic lateral sclerosis (ALS), it remains unclear whether this association is linked to combat. We conducted a matched case–control study comparing 191 ALS patients who were veterans of the Israeli Defense Forces (IDF) with known military service type and 1910 matched controls. The
Asaf Honig, Roy Dayan, Amir Knaani, Hagai Levine, Marc Gotkine   +4 more
wiley   +1 more source

Degeneration and impaired regeneration of gray matter oligodendrocytes in amyotrophic lateral sclerosis. [PDF]

, 2013
Oligodendrocytes associate with axons to establish myelin and provide metabolic support to neurons. In the spinal cord of amyotrophic lateral sclerosis (ALS) mice, oligodendrocytes downregulate transporters that transfer glycolytic substrates to neurons ...
Bergles, Dwight E, Cleveland, Don W, Fukaya, Masahiro, Kang, Shin H, Li, Ying, Lorenzini, Ileana, Ostrow, Lyle W, Rothstein, Jeffrey D   +7 more
core   +2 more sources

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte, Berta Estévez‐Arias, Leslie Matalonga, Delia Yubero, Anna Codina, Carlos Ortez, Julita Medina, Lidia DeSena DeCabo, Laura Carrera‐García, Jesica Expósito‐Escudero, Cristina Jou, Eduardo F. Tizzano, Andres Nascimento, Daniel Natera‐de Benito   +13 more
wiley   +1 more source