A Comprehensive Endocrine Description of Kennedy's Disease Revealing Androgen Insensitivity Linked to CAG Repeat Length

2002 ◽  
Vol 87 (8) ◽  
pp. 3893-3901 ◽  
Author(s):  
S. Dejager
Keyword(s):  
Repeat Length ◽  
Cag Repeat ◽  
Androgen Insensitivity ◽  
Kennedy’S Disease ◽  
Kennedy's Disease

scholarly journals A Comprehensive Endocrine Description of Kennedy’s Disease Revealing Androgen Insensitivity Linked to CAG Repeat Length

2002 ◽  
Vol 87 (8) ◽  
pp. 3893-3901 ◽  
Author(s):  
S. Dejager ◽  
H. Bry-Gauillard ◽  
E. Bruckert ◽  
B. Eymard ◽  
F. Salachas ◽  
...  
Keyword(s):  
Repeat Length ◽  
Cag Repeat ◽  
Androgen Insensitivity ◽  
Kennedy’S Disease ◽  
Kennedy's Disease

CAG repeat length variation in sperm from a patient with Kennedy's disease

1995 ◽  
Vol 4 (2) ◽  
pp. 303-305 ◽  
Author(s):  
Lin Zhang ◽  
Kenneth H. Fischbeck ◽  
Norman Arnhelm
Keyword(s):  
Repeat Length ◽  
Cag Repeat ◽  
Length Variation ◽  
Kennedy’S Disease ◽  
Kennedy's Disease

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
Keyword(s):  
Dna Analysis ◽  
Muscular Atrophy ◽  
Sensory Nerve ◽  
Cag Repeat ◽  
Lower Limbs ◽  
Cag Repeats ◽  
Hand Tremor ◽  
Kennedy’S Disease ◽  
Kennedy's Disease ◽  
Low Amplitude

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.

CAG-repeat expansion in androgen receptor in Kennedy's disease is not a loss of function mutation

1996 ◽  
Vol 117 (2) ◽  
pp. 149-156 ◽  
Author(s):  
Felizia Neuschmid-Kaspar ◽  
Andreas Gast ◽  
Heike Peterziel ◽  
Jean Schneikert ◽  
Armin Muigg ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Repeat Expansion ◽  
Cag Repeat ◽  
Loss Of Function ◽  
Kennedy’S Disease ◽  
Cag Repeat Expansion ◽  
Kennedy's Disease

Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review

2015 ◽  
Vol 62 (5) ◽  
pp. 224-230
Author(s):  
Rocío Valera Yepes ◽  
Maria Virgili Casas ◽  
Monica Povedano Panades ◽  
Mireia Guerrero Gual ◽  
Carles Villabona Artero
Keyword(s):  
Literature Review ◽  
Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity ◽  
Kennedy’S Disease ◽  
Kennedy's Disease ◽  
Partial Androgen Insensitivity Syndrome ◽  
Syndrome Report

Rare association of antisynthetase syndrome and Kennedy’s disease

2008 ◽  
Vol 27 (10) ◽  
pp. 1329-1331 ◽  
Author(s):  
Nora Szabo ◽  
Szilveszter Lukacs ◽  
Wiranthi Gunasekera ◽  
Katalin Danko
Keyword(s):  
Antisynthetase Syndrome ◽  
Kennedy’S Disease ◽  
Rare Association ◽  
Kennedy's Disease

Genetic Screening in Infertile Mexican Men: Chromosomal Abnormalities, Y Chromosome Deletions, and Androgen Receptor CAG Repeat Length

2008 ◽  
Vol 29 (6) ◽  
pp. 654-660 ◽  
Author(s):  
S. G. Martinez-Garza ◽  
M. C. Gallegos-Rivas ◽  
M. Vargas-Maciel ◽  
J. M. Rubio-Rubio ◽  
M. E. de los Monteros-Rodriguez ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Y Chromosome ◽  
Genetic Screening ◽  
Chromosomal Abnormalities ◽  
Repeat Length ◽  
Cag Repeat ◽  
Chromosome Deletions ◽  
Mexican Men

Myasthenic symptoms in a patient with Kennedy’s disease

2013 ◽  
Vol 114 (1) ◽  
pp. 71-73 ◽  
Author(s):  
Zorica Stevic ◽  
Stojan Peric ◽  
Sanja Pavlovic ◽  
Ivana Basta ◽  
Dragana Lavrnic
Keyword(s):  
Kennedy’S Disease ◽  
Kennedy's Disease
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