## Abstract A man with spinal and bulbar muscular atrophy (SBMA) had a short (CTG)n expansion in the myotonic dystrophy protein kinase gene as well as (CAG)n expansion in the androgen receptor gene in leukocytes. The patient had the characteristic clinical findings of SBMA, but none of myotonic dys
Phase 2 trial of leuprorelin in patients with spinal and bulbar muscular atrophy
β Scribed by Haruhiko Banno; Masahisa Katsuno; Keisuke Suzuki; Yu Takeuchi; Motoshi Kawashima; Noriaki Suga; Motoko Takamori; Mizuki Ito; Tomohiko Nakamura; Koji Matsuo; Shinichi Yamada; Yumiko Oki; Hiroaki Adachi; Makoto Minamiyama; Masahiro Waza; Naoki Atsuta; Hirohisa Watanabe; Yasushi Fujimoto; Tsutomu Nakashima; Fumiaki Tanaka; Manabu Doyu; Gen Sobue
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 1019 KB
- Volume
- 65
- Category
- Article
- ISSN
- 0364-5134
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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
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
## Abstract Expanded polyglutamine tracts cause neurodegeneration through a toxic gainβofβfunction mechanism. Generation of inclusions is a common feature of polyglutamine diseases and other protein misfolding disorders. Inclusion formation is likely to be a defensive response of the cell to the pr
## Abstract ## Objective Spinal muscular atrophy results from loss of the survival motor neuron 1 (__SMN1__) gene and malfunction of the remaining __SMN2__. We investigated whether valproic acid can elevate human __SMN__ expression in vivo. ## Methods Blood was collected from 10 spinal muscular
## Communicated by Mark H. Paalman The autosomal recessive spinal muscular atrophy (SMA), a neuromuscular disease and frequent cause of early death in childhood, is caused in 96% of patients by homozygous absence of the survival motor neuron gene (SMN1). The severity of the disease is mainly deter