AI Article Synopsis
- X-linked spinal and bulbar muscular atrophy (SBMA) is a motor neuron disease linked to mutations in the androgen receptor gene, specifically involving an increased number of CAG repeats in exon 1.
- This study examined 19 SBMA patients, finding a strong correlation between the number of CAG repeats and the age at which muscle weakness began.
- The findings highlight that SBMA is the first genetic disease where the extent of genetic mutation directly relates to the severity of symptoms, emphasizing the role of androgen gene mutations in motor neuron degeneration.
Article Abstract
X-linked spinal and bulbar muscular atrophy (SBMA), a motor neuron disease associated with androgen insensitivity, is caused by androgen receptor gene mutations with an increased number of tandem CAG repeats in exon 1. We investigated the increased number of CAG repeats in androgen receptor genes of 19 SBMA patients and found that this correlated strongly with the age at onset of muscle weakness. Thus, SBMA is the first genetic disease in which a strong correlation between the degree of genetic abnormality (number of CAG tandem repeats) and clinical phenotypic expression is demonstrable. The results further indicate that androgen gene mutation is directly involved in the degeneration of motor neurons.
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| http://dx.doi.org/10.1212/wnl.42.12.2300 | DOI Listing |
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