Spinal bulbar muscular atrophy

SCA Spinocerebellar ataxia DRPLA dentatorubal pallidolusian atrophy SBMA spinal bulbar muscular atrophy) Friedreich s disease Chamberlain S., et al.. Mapping of mutation causing Friedreich s ataxia to human chromosome 9. Nature, 1988,334, 248-250. 

La Spada, A. R., Roling, D. B., Harding, A. E. et al. Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Nat. Genet. 2 301-304,1992. 

Arbizu, T., Santamaria, J., Gomez, J. M. et al. A family with adult spinal and bulbar muscular atrophy, X-linked inheritance and associated testicular failure./. Neurol. Sci. 59 371-382,1983. 

SBMA In addition to HD, NaBu has also been reported to be effective in treating spinal and bulbar muscular atrophy (SBMA) (Minamiyama et al, 2004), an inheritable motorneuron disease caused by an expanded polyglutamine-repeat within the androgen receptor. SBMA is associated with motorneuron loss in the spinal cord and brain stem as well as a sub-clinical loss of sensory neurons in the dorsal root ganglia resulting in skeletal muscle atrophy and weakness (Sobue et al, 1989 ... 

Huntington s disease (HD) is caused by mutations in a gene called Huntingtin. The disease is caused by abnormal expansion of CAG repeats, which encode long stretches of glutamine (polyglutamine). In addition to HD, there are several other known polyglutamine diseases such as spinocerebellar ataxia, and spinal and bulbar muscular atrophy. " ... 

Another motor neuron disease, which is rare and x-linked inheritance, shows certain similarities with ALS but has a much more benign course. It is so-called Kennedy s disease or x-linked spino-bulbar muscular atrophy (X-SBMA). It is caused by a mutation of the androgen receptor gene. A progressive spinal. 

Banno H, Katsuno M, Suzuki K, Takeuchi Y, Kawashima M, Suga N, Takamori M, Ito M, Nakamura T, Matsuo K, Yamada S, Old Y, Adachi H, Minamiyama M, Waza M, Atsuta N, Watanabe H, Fujimoto Y, Nakashima T, Tanaka F, Doyu M, Sobue G (2009) Phase 2 trial of leuprorelin in patients with spinal and bulbar muscular atrophy. Ann Neurol 65 140-150... 

Xql2 186.59 AR Androgen receptor 313700 Spinal and bulbar muscular atrophy of Kennedy, prostate cancer, complete androgen insensitivity, hypospadia type 1... 

Brooks, B.P. and Fischbeck, K.H. (1995) Spinal and bulbar muscular atrophy a trinucleotide-repeat expansion neurodegenerative disease. Trends in Neurosciences, 18, 459-461. 

Mutations in the AR cause resistance to the actions of testosterone and dihydrotestosterone. Male sexual differentiation and pubertal development therefore are incomplete. Other AR mutations occur in patients who have spinal and bulbar muscular atrophy, known as Kennedy s disease. These patients have an expansion of the CAG repeat, which codes for glutamine, at the amino terminus of the AR they exhibit very mild androgen resistance—manifest principally by gynecomastia—but progressively severe motor neuron atrophy, the basis of which is poorly understood. 

Leuprorelin acetate 11-25 mg subcutaneously every 12 weeks for 48 weeks was compared with placebo in 204 Japanese men with spinal and bulbar muscular atrophy in a randomized trial. There were more hot flushes with leu-prorehn (10/100 versus 2/99), but the rates of other adverse reactions were similar to those with placebo [8 . ... 

Katsuno M, Banno H, Suzuki K, Takeuchi Y, Kawashima M, Yabe I and 23 other authors Japan SBMA Interventional Trial for TAP-144-SR (JASMITT) Study Group.Efficacy and safety of leupror-elin in patients with spinal and bulbar muscular atrophy (JASMITT study) a multicentre, randomised, double-blind, placebo-controlled trial. Lancet Neurol 2010 9(9) 875-84. 

---