Literature DB >> 8749704

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

D Pareyson1, B Castellotti, S Botti, C A Defanti, C Gellera, F Taroni, A Sghirlanzoni.   

Abstract

Kennedy's disease, or spinal and bulbar muscular atrophy (SBMA), is a rare X-linked motoneuron disorder with variable signs of androgen insensitivity. It is associated with the expansion of a trinucleotide CAG repeat within the androgen receptor (AR) gene. We here report our clinical and molecular findings in two Italian families with Kennedy's disease. The increased size of the CAG repeat was demonstrated in four affected males and seven carrier females.

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Year:  1995        PMID： 8749704     DOI： 10.1007/bf02229324

Source DB:  PubMed          Journal:  Ital J Neurol Sci        ISSN： 0392-0461


  10 in total

1.  Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene.

Authors:  M Doyu; G Sobue; E Mukai; T Kachi; T Yasuda; T Mitsuma; A Takahashi
Journal:  Ann Neurol       Date:  1992-11       Impact factor: 10.422

2.  Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.

Authors:  A R La Spada; E M Wilson; D B Lubahn; A E Harding; K H Fischbeck
Journal:  Nature       Date:  1991-07-04       Impact factor: 49.962

3.  Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy.

Authors:  A R La Spada; D B Roling; A E Harding; C L Warner; R Spiegel; I Hausmanowa-Petrusewicz; W C Yee; K H Fischbeck
Journal:  Nat Genet       Date:  1992-12       Impact factor: 38.330

4.  Clinical-anatomic study of a family with bulbo-spinal muscular atrophy in adults.

Authors:  D Schiffer; F Brignolio; A Chio; M T Giordana; A Migheli
Journal:  J Neurol Sci       Date:  1986-03       Impact factor: 3.181

5.  Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait.

Authors:  W R Kennedy; M Alter; J H Sung
Journal:  Neurology       Date:  1968-07       Impact factor: 9.910

6.  Dynamic mutations hit double figures.

Authors:  P J Willems
Journal:  Nat Genet       Date:  1994-11       Impact factor: 38.330

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

Authors:  T Arbizu; J Santamaría; J M Gomez; A Quílez; J P Serra
Journal:  J Neurol Sci       Date:  1983-06       Impact factor: 3.181

8.  Strong correlation between the number of CAG repeats in androgen receptor genes and the clinical onset of features of spinal and bulbar muscular atrophy.

Authors:  S Igarashi; Y Tanno; O Onodera; M Yamazaki; S Sato; A Ishikawa; N Miyatani; M Nagashima; Y Ishikawa; K Sahashi
Journal:  Neurology       Date:  1992-12       Impact factor: 9.910

9.  Kennedy disease in an Italian kindred.

Authors:  D Guidetti; L Motti; N Marcello; E Vescovini; A Marbini; C Dotti; B Lucci; F Solimè
Journal:  Eur Neurol       Date:  1986       Impact factor: 1.710

10.  X-linked recessive bulbospinal neuronopathy: a report of ten cases.

Authors:  A E Harding; P K Thomas; M Baraitser; P G Bradbury; J A Morgan-Hughes; J R Ponsford
Journal:  J Neurol Neurosurg Psychiatry       Date:  1982-11       Impact factor: 10.154
  10 in total

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