Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world
نویسندگان
چکیده
منابع مشابه
Founder effect in spinal and bulbar muscular atrophy (SBMA).
We analyzed the polymorphic (CAG)n and (GGC)n repeats of the androgen receptor gene in 113 unrelated X-linked spinal and bulbar muscular atrophy (SBMA) X chromosomes and 173 control X chromosomes in Japanese males. The control chromosomes had an average CAG repeat number of 21 +/- 3 with a range from 14-32 repeat units, and SBMA chromosomes had a range from 40-55 with a median of 47 +/- 3 copie...
متن کاملNatural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients.
Spinal and bulbar muscular atrophy (SBMA) is an adult-onset motoneuron disease caused by a CAG-repeat expansion in the androgen receptor (AR) gene and for which no curative therapy exists. However, since recent research may provide opportunities for medical treatment, information concerning the natural history of SBMA would be beneficial in planning future clinical trials. We investigated the n...
متن کاملNeurotoxic effects of androgens in spinal and bulbar muscular atrophy
Expansion of polyglutamine tracts in nine different genes causes selective neuronal degeneration through unknown mechanisms. Expansion of polyglutamine in the androgen receptor is responsible for spinal and bulbar muscular atrophy (SBMA), a neuromuscular disorder characterized by the loss of lower motor neurons in the brainstem and spinal cord. A unique feature of SBMA in the family of polyglut...
متن کاملNonalcoholic fatty liver disease in spinal and bulbar muscular atrophy
OBJECTIVE To determine the prevalence and features of fatty liver disease in spinal and bulbar muscular atrophy (SBMA). METHODS Two groups of participants with SBMA were evaluated. In the first group, 22 participants with SBMA underwent laboratory analysis and liver imaging. In the second group, 14 participants with SBMA were compared to 13 female carriers and 23 controls. Liver biopsies were...
متن کاملSpinal and bulbar muscular atrophy: a motoneuron or muscle disease?
Kennedy disease (KD, or spinal and bulbar muscular atrophy) is caused by a CAG/polyglutamine expansion in the androgen receptor (AR) gene. Both motoneurons and muscles are affected by KD, but where mutant ARs act to initiate this disease is not clear. We discuss recent insights into this disease with two main themes. (1) KD is androgen-dependent, suggesting that blocking androgen action may be ...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2001
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5200656