Abnormal androgen receptor binding affinity in subjects with Kennedy's disease (spinal and bulbar muscular atrophy).

1995 ◽  
Vol 80 (2) ◽  
pp. 508-516 ◽  
Author(s):  
H E MacLean ◽  
W T Choi ◽  
G Rekaris ◽  
G L Warne ◽  
J D Zajac

1988 ◽  
Vol 529 (1 Fourth Colloq) ◽  
pp. 239-241
Author(s):  
SAUDHAMINI PARTHASARATHY ◽  
ANDREA CHIN ◽  
VIRGINIA MALLOY ◽  
JONATHAN MATIAS


2006 ◽  
Vol 34 (6) ◽  
pp. 1098-1102 ◽  
Author(s):  
J. Duff ◽  
P. Davies ◽  
K. Watt ◽  
I.J. McEwan

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.



2018 ◽  
Vol 16 (2) ◽  
Author(s):  
Camila Nascimento Alves ◽  
Tiago Kiyoshi Kitabayashi Braga ◽  
Danusa Neves Somensi ◽  
Bruno Sérgio Vilhena do Nascimento ◽  
José Antônio Santos de Lima ◽  
...  

ABSTRACT The X-linked spinal and bulbar muscular atrophy (Kennedy’s disease) is a rare X-linked, recessive, lower motor neuron disease, characterized by weakness, atrophy, and fasciculations of the appendicular and bulbar muscle. The disease is caused by an expansion of the CAG repetition in the androgen receptor gene. Patients with Kennedy’s disease have more than 39 CAG repetitions. We report a case of 57-year-old man, resident of Monte Dourado (PA, Brazil) who complained of brachiocrural paresis evolving for 3 years along with fasciculations and tremors of extremities. In addition, he also developed dysarthria, dysphagia, and sexual dysfunction. The patient clinical picture included gait impairment, global hyporeflexia, proximal muscle atrophy of upper limbs, deviation of the uvula to right during phonation and tongue atrophy with fasciculations. The patient reported that about 30 years ago he had undergone gynecomastia surgery. His electroneuromyography suggested spinal muscular atrophy, and nuclear magnetic resonance imaging showed tapering of the cervical and thoracic spinal cord. Patient’s creatine kinase level was elevated. In view of the findings, an exam was requested to investigate Kennedy’s disease. The exam identified 46 CAG repetitions in the androgen receptor gene, which confirmed the diagnostic suspicion. This was the first case of Kennedy’s disease diagnosed and described in the Brazilian Amazon. To our knowledge only other four papers were published on this disease in Brazilian patients. A brief review is also provided on etiopathogenic, clinical and diagnostic aspects.



Chemosphere ◽  
2002 ◽  
Vol 46 (7) ◽  
pp. 1107-1115 ◽  
Author(s):  
Ellinor R.S. Bauer ◽  
Nikola Bitsch ◽  
Hubertus Brunn ◽  
Helga Sauerwein ◽  
Heinrich H.D Meyer


1988 ◽  
Vol 31 (5) ◽  
pp. 867-870 ◽  
Author(s):  
Fumikazu Mukawa ◽  
Tetsuro Suzuki ◽  
Masahiro Ishibashi ◽  
Fujiko Yamada


2011 ◽  
Vol 22 (3-4) ◽  
pp. 265-291 ◽  
Author(s):  
M. Todorov ◽  
E. Mombelli ◽  
S. Aït-Aïssa ◽  
O. Mekenyan


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