scholarly journals Focus on the Role of D-serine and D-amino Acid Oxidase in Amyotrophic Lateral Sclerosis/Motor Neuron Disease (ALS)

2018 ◽  
Vol 5 ◽  
Author(s):  
Nazanin R. Kondori ◽  
Praveen Paul ◽  
Jacqueline P. Robbins ◽  
Ke Liu ◽  
John C. W. Hildyard ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Amino Acid ◽  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Acid Oxidase ◽  
Amino Acid Oxidase ◽  
Lateral Sclerosis

scholarly journals Questioning on the role of D amino acid oxidase in familial amyotrophic lateral sclerosis

2010 ◽  
Vol 107 (26) ◽  
pp. E107-E107 ◽  
Author(s):  
S. Millecamps ◽  
S. Da Barroca ◽  
C. Cazeneuve ◽  
F. Salachas ◽  
P.-F. Pradat ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Amino Acid ◽  
Familial Amyotrophic Lateral Sclerosis ◽  
Acid Oxidase ◽  
Amino Acid Oxidase ◽  
Lateral Sclerosis

scholarly journals Wetherbee Ail

1974 ◽  
Vol 1 (2) ◽  
pp. 139-140 ◽  
Author(s):  
James M. Powers ◽  
Dikran S. Horoupian ◽  
Herbert H. Schaumburg
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Neuronal Loss ◽  
Familial Amyotrophic Lateral Sclerosis ◽  
Spinocerebellar Degeneration ◽  
Lateral Column ◽  
Intracytoplasmic Inclusions ◽  
Lateral Sclerosis

SUMMARYThe neuropathological findings of a Farr family member consist of neuronal loss in the anterior horns and dorsal nuclei of Clarke, neuronal intracytoplasmic inclusions and posterior and lateral column demyelination. This report supports the role of familial amyotrophic lateral sclerosis as a link between common motor neuron disease and classical spinocerebellar degeneration.

Pathogenic effects of amyotrophic lateral sclerosis-linked mutation in D-amino acid oxidase are mediated by D-serine

2014 ◽  
Vol 35 (4) ◽  
pp. 876-885 ◽  
Author(s):  
Praveen Paul ◽  
Tytus Murphy ◽  
Zainab Oseni ◽  
Suganthinie Sivalokanathan ◽  
Jacqueline S. de Belleroche
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Amino Acid ◽  
Acid Oxidase ◽  
Amino Acid Oxidase ◽  
Lateral Sclerosis ◽  
Pathogenic Effects

scholarly journals Mechanistic insights into the loss-of-function mechanisms of rare human D-amino acid oxidase variants implicated in amyotrophic lateral sclerosis

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Aditya K. Padhi ◽  
Kam Y. J. Zhang
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Amino Acid ◽  
Active Site ◽  
Functional Characterization ◽  
Acid Oxidase ◽  
Missense Mutations ◽  
Salt Bridges ◽  
Amino Acid Oxidase ◽  
Structural Dynamic ◽  
Lateral Sclerosis

Abstract Impaired enzymatic activity in D-amino acid oxidase (DAAO) caused by missense mutations has been shown to trigger amyotrophic lateral sclerosis (ALS) through an abnormal accumulation of D-serine in the spinal cord. While loss of enzymatic functions of certain ALS-causing DAAO variants have been studied before, a detailed understanding of structure-dynamics-function relationship of the rare DAAO variants has not been investigated hitherto. To address this, we carried out a comprehensive study of all the reported rare DAAO variants. By employing a spectrum of bioinformatics analyses along with extensive structural dynamics simulations, we show that certain rare variants disrupted key interactions with the active site and decreased the conformational flexibility of active site loop comprising residues 216–228, which is essential for substrate binding and product release. Moreover, these variants lost crucial interactions with the cofactor flavin-adenine-dinucleotide, resulting in weaker binding affinity. A detailed inspection revealed that these variants exhibited such characteristics due to the abrogation of specific salt bridges. Taken together, our study provides a gateway into the structural-dynamic features of the rare DAAO variants and highlights the importance of informatics-based integrated analyses in the screening and prioritization of variants a priori to the clinical-functional characterization.

scholarly journals Role of neuro-sonography of peripheral nerves as a diagnostic and a differentiation tool of amyotrophic lateral sclerosis

2021 ◽  
Vol 57 (1) ◽  
Author(s):  
Rana Zakaria Ahmed Mohamed ◽  
Haitham Hamdy Salem ◽  
Hossam Moussa El-Sayed Sakr ◽  
Hossam-Eldin Mahmoud Afifi ◽  
Ahmed Mohammed Elsadek ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Differential Diagnosis ◽  
Early Diagnosis ◽  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Neurodegenerative Disorders ◽  
Peripheral Nerves ◽  
Radiological Criteria ◽  
Lateral Sclerosis

Abstract Background Motor neuron disease is a heterogeneous group of progressive neurodegenerative disorders, most common of which is amyotrophic lateral sclerosis (ALS). There are many clinical and radiological criteria to diagnose amyotrophic lateral sclerosis and to differentiate it from other motor neuron disease and neurodegenerative disorders. Neuro-sonography is one of the easily applied tools to diagnose and differentiate ALS. ALS diagnosis is delayed up to 3 years according to some authors due to the wide differential diagnosis, with cervical degeneration being a common misdiagnosis. The objective of this study was to evaluate the role of neuro-sonography in diagnosis and differentiation of amyotrophic lateral sclerosis from other causes of progressive mixed upper and lower motor neuron lesion. Results A total neuro-sonography score at a cut-off point (≤ 127) predicted patients with ALS, with good (85%) accuracy, sensitivity = 73% and specificity = 83% (p < 0.01) and Lt median arm score at a cut-off point (≤ 6) predicted patients with ALS, with good (88%) accuracy, sensitivity = 86% and specificity = 86% (p < 0.01) and the median nerve at the arm level was the most sensitive and specific nerve to predict patients with ALS. Conclusion Neuro-sonography of peripheral nerves is a recent, noninvasive, accessible technique that can be used in early diagnosis of ALS.

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