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Disaggregation of polyribosomes in the spinal anterior horn cells in a patient with X-linked spinal and bulbar muscular atrophy

✍ Scribed by K. Oyanagi; K. Aoki; Takashi Morita; Shuichi Igarashi; Takashi Inuzuka; Yoh Horikawa

Publisher
Springer-Verlag
Year
1996
Tongue
English
Weight
382 KB
Volume
91
Category
Article
ISSN
0001-6322

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PRENATAL DIAGNOSIS OF X-LINKED SPINAL AN
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X-linked spinal and bulbar muscular atrophy (SBMA) is a late-onset motor neuron disorder which is caused by an expansion of the trinucleotide repeat (CAG), in the first exon of the androgen receptor gene. Two cases of prenatal testing for the disease in a Greek family are reported. An affected male

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Expansion of trinucleotide repeats has now been associated with eight inherited diseases: X-linked spinal and bulbar muscular atrophy, two fragile X syndromes, myotonic dystrophy, Huntington's disease, spinocerebellar ataxia type I, dentatorubral pallidoluysian atrophy and Machado-Joseph disease. It