scholarly journals X-linked spinal and bulbar muscular atrophy (Kennedy's disease) with long-term electrophysiological evaluation: case report

2005 ◽  
Vol 63 (1) ◽  
pp. 154-159 ◽  
Author(s):  
João Aris Kouyoumdjian ◽  
Maria da Penha Ananias Morita ◽  
Rogério Gayer Machado de Araújo

X-linked spinal and bulbar muscular atrophy or Kennedy's disease is an adult-onset motor neuronopathy caused by a CAG repeat expansion within the first exon of an androgen receptor gene. We report the case of a 66-year-old man, previously diagnosed with motor neuron disease (MND), who presented acute and reversible left vocal fold (dysphonia) and pharyngeal paresis, followed by a slowly progressive weakness and also bouts of weakness, wasting and fasciculation on tongue, masseter, face, pharyngeal, and some proximal more than distal upper limb muscles, associated to bilateral hand tremor and mild gynecomastia. There were 5 electroneuromyography exams between 1989 and 2003 that revealed chronic reinnervation, some fasciculations (less than clinically observed) and rare fibrillation potentials, and slowly progressive sensory nerve action potentials (SNAP) abnormality, leading to absent/low amplitude potentials. PCR techniques of DNA analysis showed an abnormal number of CAG repeats, found to be 44 (normal 11-34). Our case revealed an acute and asymmetric clinical presentation related to bulbar motoneurons; low amplitude/absent SNAP with mild asymmetry; a sub-clinical or subtle involvement of proximal/distal muscles of both upper and lower limbs; and a probable evolution with bouts of acute dennervation, followed by an efficient reinnervation.

2017 ◽  
Vol 20 (1) ◽  
pp. 57-60
Author(s):  
Sungchul Kim ◽  
Seongjin Lee ◽  
Eunhye Cha ◽  
Jongcheol Lee ◽  
Jongdeok Lee ◽  
...  

2009 ◽  
Vol 56 (2) ◽  
pp. 136-141 ◽  
Author(s):  
Adam D. Niesen ◽  
Juraj Sprung ◽  
Y. S. Prakash ◽  
James C. Watson ◽  
Toby N. Weingarten

2018 ◽  
Vol 89 (8) ◽  
pp. 808-812 ◽  
Author(s):  
Raquel Manzano ◽  
Gianni Sorarú ◽  
Christopher Grunseich ◽  
Pietro Fratta ◽  
Emanuela Zuccaro ◽  
...  

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.


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.


Author(s):  
Elisabeth Kasper ◽  
Martin Wegrzyn ◽  
Ivo Marx ◽  
Christin Korp ◽  
Wolfram Kress ◽  
...  

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