scholarly journals Molecular pathogenesis of spinal bulbar muscular atrophy (Kennedy's disease) and avenues for treatment

2020 ◽  
Vol 33 (5) ◽  
pp. 629-634
Author(s):  
Christopher Grunseich ◽  
Kenneth H. Fischbeck
Keyword(s):  
Muscular Atrophy ◽  
Molecular Pathogenesis ◽  
Kennedy’S Disease ◽  
Kennedy's Disease ◽  
Spinal Bulbar Muscular Atrophy

Structural dynamics of the human androgen receptor: implications for prostate cancer and neurodegenerative disease

2006 ◽  
Vol 34 (6) ◽  
pp. 1098-1102 ◽  
Author(s):  
J. Duff ◽  
P. Davies ◽  
K. Watt ◽  
I.J. McEwan
Keyword(s):  
Prostate Cancer ◽  
Androgen Receptor ◽  
Structural Dynamics ◽  
Muscular Atrophy ◽  
Binding Domain ◽  
Genetic Changes ◽  
Kennedy’S Disease ◽  
Kennedy's Disease ◽  
Exon 1 ◽  
Spinal Bulbar Muscular Atrophy

The AR (androgen receptor) is a ligand-activated transcription factor that mediates the action of the steroids testosterone and dihydrotestosterone. Alterations in the AR gene result in a number of clinical disorders, including: androgen-insensitivity, which leads to disruption of male development; prostate cancer; and a neuromuscular degenerative condition termed spinal bulbar muscular atrophy or Kennedy's disease. The AR gene is X-linked and the protein is coded for by eight exons, giving rise to a C-terminal LBD (ligand-binding domain; exons 4–8), linked by a hinge region (exon 4) to a Zn-finger DBD (DNA-binding domain; exons 2 and 3) and a large structurally distinct NTD (N-terminal domain; exon 1). Identification and characterization of mutations found in prostate cancer and Kennedy's disease patients have revealed the importance of structural dynamics in the mechanisms of action of receptors. Recent results from our laboratory studying genetic changes in the LBD and the structurally flexible NTD will be discussed.

Sensory involvement in spinal-bulbar muscular atrophy (Kennedy's disease)

2000 ◽  
Vol 23 (2) ◽  
pp. 252-258 ◽  
Author(s):  
G. Antonini ◽  
F. Gragnani ◽  
A. Romaniello ◽  
E.M. Pennisi ◽  
S. Morino ◽  
...  
Keyword(s):  
Muscular Atrophy ◽  
Kennedy’S Disease ◽  
Kennedy's Disease ◽  
Sensory Involvement ◽  
Spinal Bulbar Muscular Atrophy

Androgen-modulating agents for spinal bulbar muscular atrophy/Kennedy's disease

2015 ◽  
Author(s):  
Fan Kee Hoo ◽  
Md. Shariful Hasan Sumon ◽  
Hamidon Basri ◽  
Wan Aliaa Wan Sulaiman ◽  
Johnson Stanslas ◽  
...  
Keyword(s):  
Muscular Atrophy ◽  
Kennedy’S Disease ◽  
Kennedy's Disease ◽  
Spinal Bulbar Muscular Atrophy

Androgen-modulating agents for spinal bulbar muscular atrophy/Kennedy's disease

2022 ◽  
Vol 2022 (1) ◽  
Author(s):  
Fan Kee Hoo ◽  
Md. Shariful Hasan Sumon ◽  
Hamidon Basri ◽  
Wan Aliaa Wan Sulaiman ◽  
Johnson Stanslas ◽  
...  
Keyword(s):  
Muscular Atrophy ◽  
Kennedy’S Disease ◽  
Kennedy's Disease ◽  
Spinal Bulbar Muscular Atrophy

scholarly journals The Use of Korean Medicine to Treat Patients with Spinobulbar Muscular Atrophy, Kennedy’s Disease - A Case Study

2017 ◽  
Vol 20 (1) ◽  
pp. 57-60
Author(s):  
Sungchul Kim ◽  
Seongjin Lee ◽  
Eunhye Cha ◽  
Jongcheol Lee ◽  
Jongdeok Lee ◽  
...  
Keyword(s):  
Muscular Atrophy ◽  
Korean Medicine ◽  
Spinobulbar Muscular Atrophy ◽  
Kennedy’S Disease ◽  
Kennedy's Disease

scholarly journals Case series: anesthetic management of patients with spinal and bulbar muscular atrophy (Kennedy’s disease)

2009 ◽  
Vol 56 (2) ◽  
pp. 136-141 ◽  
Author(s):  
Adam D. Niesen ◽  
Juraj Sprung ◽  
Y. S. Prakash ◽  
James C. Watson ◽  
Toby N. Weingarten
Keyword(s):  
Muscular Atrophy ◽  
Anesthetic Management ◽  
Case Series ◽  
Kennedy’S Disease ◽  
Kennedy's Disease

scholarly journals Beyond motor neurons: expanding the clinical spectrum in Kennedy’s disease

2018 ◽  
Vol 89 (8) ◽  
pp. 808-812 ◽  
Author(s):  
Raquel Manzano ◽  
Gianni Sorarú ◽  
Christopher Grunseich ◽  
Pietro Fratta ◽  
Emanuela Zuccaro ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Motor Neurons ◽  
Multidisciplinary Approach ◽  
Muscular Atrophy ◽  
Receptor Gene ◽  
Androgen Receptor Gene ◽  
Motor Neuron Degeneration ◽  
Kennedy’S Disease ◽  
Kennedy's Disease ◽  
Repeat Expansions

Kennedy’s disease, or spinal and bulbar muscular atrophy (SBMA), is an X-linked neuromuscular condition clinically characterised by weakness, atrophy and fasciculations of the limb and bulbar muscles, as a result of lower motor neuron degeneration. The disease is caused by an abnormally expanded triplet repeat expansions in the ubiquitously expressed androgen receptor gene, through mechanisms which are not entirely elucidated. Over the years studies from both humans and animal models have highlighted the involvement of cell populations other than motor neurons in SBMA, widening the disease phenotype. The most compelling aspect of these findings is their potential for therapeutic impact: muscle, for example, which is primarily affected in the disease, has been recently shown to represent a valid alternative target for therapy to motor neurons. In this review, we discuss the emerging study of the extra-motor neuron involvement in SBMA, which, besides increasingly pointing towards a multidisciplinary approach for affected patients, deepens our understanding of the pathogenic mechanisms and holds potential for providing new therapeutic targets for this disease.

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