Results 51 to 60 of about 11,333 (226)

Occasional essay: upper motor neuron syndrome in amyotrophic lateral sclerosis [PDF]

, 2020
The diagnosis of amyotrophic lateral sclerosis (ALS) requires recognition of both lower (LMN) and upper motor neuron (UMN) dysfunction.1 However, classical UMN signs are frequently difficult to identify in ALS.2 LMN involvement is sensitively detected ...
Burke, David, deCarvalho, Mamede, Grosskreutz, Julian, Kiernan, Matthew C, Leigh, P Nigel, Swash, Michael, Turner, Martin R   +6 more
core   +1 more source

A Crucial Role for the Protein Quality Control System in Motor Neuron Diseases

Frontiers in Aging Neuroscience, 2020
Motor neuron diseases (MNDs) are fatal diseases characterized by loss of motor neurons in the brain cortex, in the bulbar region, and/or in the anterior horns of the spinal cord.
Riccardo Cristofani, Valeria Crippa, Maria Elena Cicardi, Maria Elena Cicardi, Barbara Tedesco, Veronica Ferrari, Marta Chierichetti, Elena Casarotto, Margherita Piccolella, Elio Messi, Mariarita Galbiati, Paola Rusmini, Angelo Poletti, Angelo Poletti   +13 more
doaj   +1 more source

Tremor in motor neuron disease may be central rather than peripheral in origin [PDF]

, 2018
BACKGROUND AND PURPOSE: Motor neuron disease (MND) refers to a spectrum of degenerative diseases affecting motor neurons. Recent clinical and post-mortem observations have revealed considerable variability in the phenotype.
Balint, B, Batla, A, Berardelli, A, Bhatia, K P, Ciocca, M, Latorre, A, Rocchi, L, Rothwell, J C, Sidle, K, Stamelou, M   +9 more
core   +2 more sources

Facial onset sensory and motor neuronopathy: new cases, cognitive changes and pathophysiology [PDF]

, 2020
Purpose of review To improve our clinical understanding of facial onset sensory and motor neuronopathy (FOSMN). Recent findings We identified 29 new cases and 71 literature cases, resulting in a cohort of 100 patients with FOSMN.
Al-Chalabi, Ammar, Albertí Aguilo, Maria A., Anderson, Stuart J., Barritt, Andrew W., Bella, Eleonora Dalla, Broad, Rebecca, De Boer, Eva M.J., De Souza, Paulo V.S., Elamin, Marwa, Goedee, H. Stephan, Harschnitz, Oliver, Lauria, Giuseppe, Leigh, Peter N., Nisbet, Angus, Oliveira, Acary S.B., Pardo Fernandez, Julio, Parson, Malu, Pinto, Wladimir B.V.R., Povedano Panades, Mónica, Prudlo, Johannes, Toro, Camilo, Van Den Berg, Leonard H., Van Es, Michael A., Van Iersel, Joost, Vedeler, Christian A., Veldink, Jan H., Vázquez Costa, Juan F.   +26 more
core   +3 more sources

Neuropathology and Therapeutic Intervention in Spinal and Bulbar Muscular Atrophy [PDF]

International Journal of Molecular Sciences, 2009
Spinal and bulbar muscular atrophy (SBMA) is a hereditary motor neuron disease caused by the expansion of a polyglutamine tract in the androgen receptor (AR). The histopathological finding in SBMA is loss of lower motor neurons in the anterior horn of the spinal cord as well as in the brainstem motor nuclei.
Haruhiko, Banno, Masahisa, Katsuno, Keisuke, Suzuki, Fumiaki, Tanaka, Gen, Sobue   +4 more
openaire   +2 more sources

Efficacy of Botulinum Toxin for Treating Sialorrhea in Neuromuscular Conditions

Frontiers in Neurology, 2020
Background: Drooling related to bulbar weakness and dysfunction is a common concern in patients with neuromuscular disease. While there are numerous medications to manage sialorrhea, they are often limited by side effects and lack of efficacy.
Harsh Singh, Yash Nene, Tejas R. Mehta, Raghav Govindarajan   +3 more
doaj   +1 more source

Zur Androgenrezeptor-Hypothese der amyotrophen Lateralsklerose [PDF]

, 1994
Unter Annahme einer möglichen Funktionsstörung des Androgenrezeptors bei der amyotrophen Lateralsklerose (ALS) wurde die repetitive CAG-Trinukleotidsequenz seines ersten Exons bei 12 Patienten untersucht, da eine abnorme Verlängerung dieses Genabschnitts
Borasio, Gian Domenico, Danek, Adrian, Kreß, W., Witt, T. N.   +3 more
core   +1 more source

Src inhibition attenuates polyglutamine-mediated neuromuscular degeneration in spinal and bulbar muscular atrophy

Nature Communications, 2019
Spinal and bulbar muscular atrophy is a neuromuscular disease caused by an expanded CAG repeat in the androgen receptor gene. Here the authors show that Src kinase signaling is activated in a mouse model of the disease, and that Src inhibition improves ...
Madoka Iida, Kentaro Sahashi, Naohide Kondo, Hideaki Nakatsuji, Genki Tohnai, Yutaka Tsutsumi, Seiya Noda, Ayuka Murakami, Kazunari Onodera, Yohei Okada, Masahiro Nakatochi, Yuka Tsukagoshi Okabe, Shinobu Shimizu, Masaaki Mizuno, Hiroaki Adachi, Hideyuki Okano, Gen Sobue, Masahisa Katsuno   +17 more
doaj   +1 more source

Long-term follow-up of spinal and bulbar muscular atrophy in Taiwan

Journal of the Formosan Medical Association, 2013
Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy disease, is a rare neurodegenerative disorder presenting with insidious onset of weakness in bulbar and limb muscles. Information regarding long-term clinical and functional progression has
Ser-Chen Fu, Hung-Chou Kuo, Chun-Che Chu, Yih-Ru Wu, Long-Sun Ro, Chin-San Liu, Chin-Chang Huang   +6 more
doaj   +1 more source

Proteasomal and autophagic degradative activities in spinal and bulbar muscular atrophy

Neurobiology of Disease, 2010
Spinal and bulbar muscular atrophy (SBMA or Kennedy's disease) is a fatal neurodegenerative disease characterized by the selective loss of motor neurons in the bulbar region of the brain and in the anterior horns of the spinal cord.
Paola Rusmini, Elena Bolzoni, Valeria Crippa, Elisa Onesto, Daniela Sau, Mariarita Galbiati, Margherita Piccolella, Angelo Poletti   +7 more
doaj   +1 more source