Kennedy's disease: A clinicopathologic correlation with mutations in the androgen receptor gene

Neurology ◽  
1993 ◽  
Vol 43 (4) ◽  
pp. 791-791 ◽  
Author(s):  
A. A. Amato ◽  
T. W. Prior ◽  
R. J. Barohn ◽  
P. Snyder ◽  
A. Papp ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Receptor Gene ◽  
Androgen Receptor Gene ◽  
Kennedy’S Disease ◽  
Clinicopathologic Correlation ◽  
Kennedy's Disease

scholarly journals X-linked spinal and bulbar muscular atrophy (Kennedy’s disease): the first case described in the Brazilian Amazon

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 ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Muscular Atrophy ◽  
Receptor Gene ◽  
Brazilian Amazon ◽  
Androgen Receptor Gene ◽  
Thoracic Spinal Cord ◽  
Kennedy’S Disease ◽  
Kennedy's Disease ◽  
First Case ◽  
Patient Reported

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.

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.

417: The Human Androgen Receptor Gene is a Primary Target of the WNT Signaling Pathway

2006 ◽  
Vol 175 (4S) ◽  
pp. 136-136
Author(s):  
Ralph Buttyan ◽  
Xuezhen Yang ◽  
Min-Wei Chen ◽  
Debra L. Bemis ◽  
Mitchell C. Benson ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Wnt Signaling ◽  
Signaling Pathway ◽  
Receptor Gene ◽  
Wnt Signaling Pathway ◽  
Androgen Receptor Gene ◽  
Primary Target ◽  
Human Androgen Receptor Gene ◽  
Human Androgen Receptor

Father absence, age at menarche, and sexual behaviors in women: Evaluating the genetic confounding hypothesis using the androgen receptor gene.

2019 ◽  
Vol 13 (3) ◽  
pp. 205-222 ◽  
Author(s):  
Gabriel L. Schlomer ◽  
Jessica Murray ◽  
Brianna Yates ◽  
Kerry Hair ◽  
David J. Vandenbergh
Keyword(s):  
Androgen Receptor ◽  
Sexual Behaviors ◽  
Receptor Gene ◽  
Father Absence ◽  
Androgen Receptor Gene ◽  
Age At Menarche

scholarly journals A single base mutation in the androgen receptor gene causes androgen insensitivity in the testicular feminized rat.

1990 ◽  
Vol 265 (15) ◽  
pp. 8893-8900 ◽  
Author(s):  
W G Yarbrough ◽  
V E Quarmby ◽  
J A Simental ◽  
D R Joseph ◽  
M Sar ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Receptor Gene ◽  
Androgen Receptor Gene ◽  
Single Base ◽  
Androgen Insensitivity

The CAG Repeat Within the Androgen Receptor Gene and Benign Prostatic Hyperplasia

1999 ◽  
Vol 162 (1) ◽  
pp. 269-270
Author(s):  
E. Giovannucci ◽  
E.A. Platz ◽  
M.J. Stampfer ◽  
A. Chan ◽  
K. Krithivas ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Benign Prostatic Hyperplasia ◽  
Receptor Gene ◽  
Androgen Receptor Gene ◽  
Prostatic Hyperplasia ◽  
Cag Repeat

scholarly journals Chromosome X aneusomy and androgen receptor gene copy number aberrations in apocrine carcinoma of the breast

2021 ◽  
Author(s):  
Anna Cremonini ◽  
Luca Saragoni ◽  
Luca Morandi ◽  
Angelo G. Corradini ◽  
Caterina Ravaioli ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Receptor Gene ◽  
Gene Copy Number ◽  
Androgen Receptor Gene ◽  
Gene Copy ◽  
Immunohistochemical Expression ◽  
Neoplastic Cells ◽  
Genetic Changes ◽  
Rare Tumours ◽  
Regulator Genes

AbstractCarcinomas with apocrine differentiation (CAD) of the breast are rare tumours typically presenting high immunohistochemical expression of androgen receptor (AR) which is a target molecule for personalised therapy. To date, no studies have evaluated the genetic changes that are associated with AR immunohistochemical expression in CADs. The present work aims to characterise AR status in CADs. Twenty CAD tumours were studied with immunohistochemistry, in situ fluorescence hybridization and DNA methylation analysis, to evaluate AR expression and its regulator status. All tumours demonstrated high AR immunohistochemical expression, with over 95% of the neoplastic cells showing AR positivity in 19/20 cases. CADs showed AR gene copy loss in a percentage of neoplastic cells ranging from 5 to 84% (mean 48.93%). AR regulator genes, including the MAGE family, UXT and FLNA, presented variable methylation levels, but were mainly hypomethylated and therefore all transcriptionally active. The results of this study indicate that CADs present AR monosomy, paralleled by higher transcriptional activity of the gene with potential to influence response to AR deprivation therapy.

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