Literature DB >> 6683750

A family with adult spinal and bulbar muscular atrophy, X-linked inheritance and associated testicular failure.

T Arbizu, J Santamaría, J M Gomez, A Quílez, J P Serra.   

Abstract

A family with adult spinal and bulbar muscular atrophy with X-linked recessive inheritance (Kennedy's disease) is described. Affected members presented at age 20 with muscle cramps followed insidiously by gynaecomastia, partial loss of secondary sexual traits, loss of libido and inability to maintain an erection. Three had also testicular atrophy and severe oligospermia was found in two patients. Testicular biopsy in one case showed germinal failure with almost normal Leydig cells. Hormonal tests were suggestive of a primary testicular failure. Etiologic possibilities are considered.

Entities:  

Mesh:

Year:  1983        PMID: 6683750     DOI: 10.1016/0022-510x(83)90022-9

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN: 0022-510X            Impact factor:   3.181


  16 in total

1.  Molecular analysis of the androgen receptor gene in Hong Kong Chinese infertile men.

Authors:  J Y M Tse; V W S Liu; W S B Yeung; E Y L Lau; E H Y Ng; P C Ho
Journal:  J Assist Reprod Genet       Date:  2003-06       Impact factor: 3.412

2.  Quinine-responsive muscle cramps in X-linked bulbospinal muscular atrophy Kennedy.

Authors:  J Finsterer; C Stöllberger
Journal:  J Neurol       Date:  2009-03-22       Impact factor: 4.849

3.  Prenatal flutamide enhances survival in a myogenic mouse model of spinal bulbar muscular atrophy.

Authors:  Jamie A Johansen; Sandra M Troxell-Smith; Zhigang Yu; Kaiguo Mo; D Ashley Monks; Andrew P Lieberman; S Marc Breedlove; Cynthia L Jordan
Journal:  Neurodegener Dis       Date:  2010-08-04       Impact factor: 2.977

4.  Kennedy's disease: clinical and molecular study of two Italian families.

Authors:  D Pareyson; B Castellotti; S Botti; C A Defanti; C Gellera; F Taroni; A Sghirlanzoni
Journal:  Ital J Neurol Sci       Date:  1995-10

Review 5.  Exploring the Potential of Small Molecule-Based Therapeutic Approaches for Targeting Trinucleotide Repeat Disorders.

Authors:  Arun Kumar Verma; Eshan Khan; Sonali R Bhagwat; Amit Kumar
Journal:  Mol Neurobiol       Date:  2019-08-09       Impact factor: 5.590

Review 6.  Skeletal muscle in motor neuron diseases: therapeutic target and delivery route for potential treatments.

Authors:  Luc Dupuis; Andoni Echaniz-Laguna
Journal:  Curr Drug Targets       Date:  2010-10       Impact factor: 3.465

7.  The androgen receptor's CAG/glutamine tract in mouse models of neurological disease and cancer.

Authors:  Andrew P Lieberman; Diane M Robins
Journal:  J Alzheimers Dis       Date:  2008-06       Impact factor: 4.472

8.  Decrease in androgen binding and effect of androgen treatment in a case of X-linked bulbospinal neuronopathy.

Authors:  A Danek; T N Witt; K Mann; H U Schweikert; G Romalo; A R La Spada; K H Fischbeck
Journal:  Clin Investig       Date:  1994-11

Review 9.  Spinal and bulbar muscular atrophy: ligand-dependent pathogenesis and therapeutic perspectives.

Authors:  Masahisa Katsuno; Hiroaki Adachi; Fumiaki Tanaka; Gen Sobue
Journal:  J Mol Med (Berl)       Date:  2004-02-27       Impact factor: 4.599

10.  The CAG repeat within the androgen receptor gene and its relationship to prostate cancer.

Authors:  E Giovannucci; M J Stampfer; K Krithivas; M Brown; D Dahl; A Brufsky; J Talcott; C H Hennekens; P W Kantoff
Journal:  Proc Natl Acad Sci U S A       Date:  1997-04-01       Impact factor: 11.205

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.