TY - JOUR T1 - Five year follow up of a patient with spinal and bulbar muscular atrophy treated with leuprorelin JF - Journal of Neurology, Neurosurgery & Psychiatry JO - J Neurol Neurosurg Psychiatry SP - 1206 LP - 1207 DO - 10.1136/jnnp.2003.030064 VL - 75 IS - 8 AU - T Shimohata AU - T Kimura AU - M Nishizawa AU - O Onodera AU - S Tsuji Y1 - 2004/08/01 UR - http://jnnp.bmj.com/content/75/8/1206.abstract N2 - Spinal and bulbar muscular atrophy (SBMA; MIM 313200) is an X linked late onset motor neurone disease characterised by slowly progressive proximal and bulbar muscle weakness, muscle atrophy, postural hand tremor, gynecomastia, and endocrine disturbances that include signs of partial androgen resistance. SBMA is caused by the expansion of a trinucleotide CAG repeat in the first exon of the androgen receptor (AR) gene encoding a polyglutamine stretch.1 Recently, Katsuno et al2 reported that leuprorelin, a lutenising hormone releasing hormone (LHRH) agonist that reduces the level of testosterone release from the testis, rescued motor dysfunction and nuclear accumulation of mutant ARs in a male transgenic mouse model of SBMA. This result indicates that ligand dependent nuclear translocation of mutant ARs containing expanded polyglutamine is the main source of the pathogenesis of SBMA, and that leuprorelin suppresses this translocation. We read this report with great interest, because we followed up a patient with SBMA, who has been administered leuprorelin for 5 years to treat his coexisting prostate cancer. A 75 year old male noticed bilateral finger tremor at age 57. At age 63, he noticed weakness in his arms. He was admitted to our hospital in December 1991, when he was 64 years old. On initial examination, he … ER -