نتایج جستجو برای: sporadic amyotrophic lateral sclerosis sals

تعداد نتایج: 198646  

Journal: :Brain : a journal of neurology 2009
Manuela Neumann Rosa Rademakers Sigrun Roeber Matt Baker Hans A Kretzschmar Ian R A Mackenzie

Frontotemporal dementia (FTD) is a clinical syndrome with a heterogeneous molecular basis. The neuropathology associated with most FTD is characterized by abnormal cellular aggregates of either transactive response DNA-binding protein with Mr 43 kDa (TDP-43) or tau protein. However, we recently described a subgroup of FTD patients, representing around 10%, with an unusual clinical phenotype and...

Journal: :Archives of neurology 2007
Manuela Neumann Linda K Kwong Deepak M Sampathu John Q Trojanowski Virginia M-Y Lee

H erein, we review advances in understanding a group of disorders collectively known as TAR-DNA binding protein 43 (TDP-43) proteinopathies since the report that TDP-43 is the major disease protein that mechanistically links frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U) with and without motor neuron disease to amyotrophic lateral sclerosis. Because TDP-43 protein...

Journal: :Brain : a journal of neurology 2011
Nobue K Iwata Justin Y Kwan Laura E Danielian John A Butman Fernanda Tovar-Moll Elham Bayat Mary Kay Floeter

Primary lateral sclerosis is a sporadic disorder characterized by slowly progressive corticospinal dysfunction. Primary lateral sclerosis differs from amyotrophic lateral sclerosis by its lack of lower motor neuron signs and long survival. Few pathological studies have been carried out on patients with primary lateral sclerosis, and the relationship between primary lateral sclerosis and amyotro...

2010
Steve Vucic Benjamin C. Cheah Con Yiannikas Angela Vincent Matthew C. Kiernan

Acquired neuromyotonia encompasses a group of inflammatory disorders characterized by symptoms reflecting peripheral nerve hyperexcitability, which may be clinically confused in the early stages with amyotrophic lateral sclerosis. Despite a clear peripheral nerve focus, it remains unclear whether the ectopic activity in acquired neuromyotonia receives a central contribution. To clarify whether ...

2012
Edward Pokrishevsky Leslie I. Grad Masoud Yousefi Jing Wang Ian R. Mackenzie Neil R. Cashman

BACKGROUND Amyotrophic lateral sclerosis (ALS) is incurable and characterized by progressive paralysis of the muscles of the limbs, speech and swallowing, and respiration due to the progressive degeneration of voluntary motor neurons. Clinically indistinguishable ALS can be caused by genetic mutations of Cu/Zn superoxide dismutase (SOD1), TAR-DNA binding protein 43 (TDP43), or fused in sarcoma/...

Journal: :NeuroSci 2021

Cigarette smoke (CS) has been consistently demonstrated to be an environmental risk factor for amyotrophic lateral sclerosis (ALS), although the molecular pathogenic mechanisms involved are yet elucidated. Here, we propose different by which CS exposure can cause sporadic ALS pathogenesis. Oxidative stress and neuroinflammation widely implicated in pathogenesis, with blood–spinal cord barrier d...

Journal: :Human molecular genetics 2010
Valeria Crippa Daniela Sau Paola Rusmini Alessandra Boncoraglio Elisa Onesto Elena Bolzoni Mariarita Galbiati Elena Fontana Marianna Marino Serena Carra Caterina Bendotti Silvia De Biasi Angelo Poletti

Several neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS), are characterized by the presence of misfolded proteins, thought to trigger neurotoxicity. Some familial forms of ALS (fALS), clinically indistinguishable from sporadic ALS (sALS), are linked to superoxide dismutase 1 (SOD1) gene mutations. It has been shown that the mutant SOD1 misfolds, forms insoluble aggregat...

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