Although a peripheral neuropathy is the best known neurological complication of Waldenstrom's Macroglobulinemia (WM), the association of Amyotrophic Lateral Sclerosis (ALS), or other Motor Neuron Diseases (MND) with monoclonal gammopathies is described. We report the case of a male patient (41 years old) with WM and ALS. Whether monoclonal gammopathies play a role in the pathogenesis of MND is unclear but is la possible that patients might have antibodies against motor neurons. In our reported case neurologic symptoms were the first and the most important manifestations of the underlying hemopathy and despite plasmapheresis and immunosuppressive treatment ALS syndrome progressed. The neurologic disease worsened despite the improvement of WM.
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Neurosci Bull
January 2025
CAS Key Laboratory of Brain Function and Disease, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, 230026, China.
Neurol Genet
February 2025
University of Utah, Salt Lake City.
Spinocerebellar ataxias (SCAs) are dominantly inherited diseases that lead to neurodegeneration in the cerebellum and other parts of the nervous system. This review examines the progress that has been made in SCA2 from its initial clinical description to discovery of DNA CAG-repeat expansions in the gene. repeat alleles cover the range from recessive and dominant mendelian alleles to risk alleles for amyotrophic lateral sclerosis.
View Article and Find Full Text PDFFront Neurol
January 2025
Department of Human Neurosciences, Sapienza University, Rome, Italy.
Background/aims: Oro-pharyngeal dysfunction has been reported in Amyotrophic Lateral Sclerosis (ALS). We aimed to assess ALS patients upper gastrointestinal (GI) motor activity and GI symptoms according to bulbar and spinal onset and severity of ALS.
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Curr Top Med Chem
January 2025
Department of Histology and Embryology, School of Basic Medicine, Hengyang Medical School, University of South China, Hengyang, 421001, China.
In recent years, an increasing number of studies have shown that increased activation of aspartic endopeptidases (AEPs) is a common symptom in neurodegenerative diseases (NDDs). AEP cleaves amyloid precursor protein (APP), tau (microtubule-associated protein tau), α- synuclein (α-syn), SET (a 39-KDa phosphoprotein widely expressed in various tissues and localizes predominantly in the nucleus), and TAR DNA-binding protein 43 (TDP-43), and promotes their aggregation, contributing to Alzheimer's disease (AD), Parkinson's disease (PD), Huntington's disease, multiple sclerosis (MS), amyotrophic lateral sclerosis (ALS), and frontotemporal dementia (FTD) pathogenesis. Abundant evidence supports the notion that CCAAT/enhancer-binding protein β (C/EBPβ)/AEP may play an important role in NDDs.
View Article and Find Full Text PDFCurr Protein Pept Sci
January 2025
Department of Pharmacy, Panipat Institute of Engineering and Technology, India.
The three-dimensional structure of proteins, achieved through the folding of the nascent polypeptide chain in vivo, is largely facilitated by molecular chaperones, which are crucial for determining protein functionality. In addition to aiding in the folding process, chaperones target misfolded proteins for degradation, acting as a quality control system within the cell. Defective protein folding has been implicated in a wide range of clinical conditions, including neurodegenerative and metabolic disorders.
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