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Case report: Klinefelter syndrome may protect against the development of spinal and bulbar muscular atrophy
被引:0
|作者:
Akanuma, Haruna
[1
]
Kadowaki, Suguru
[2
]
Kanai, Kazuaki
[1
]
机构:
[1] Fukushima Med Univ, Sch Med, Dept Neurol, Fukushima, Japan
[2] Ohta Gen Hosp Fdn, Ohta Nishinouchi Hosp, Dept Neurol, Koriyama, Japan
来源:
FRONTIERS IN NEUROLOGY
|
2024年
/
15卷
关键词:
testosterone;
spinal and bulbar muscular atrophy;
Klinefelter syndrome;
androgen replacement therapy;
leuprorelin;
EXPRESSION;
DISEASE;
D O I:
10.3389/fneur.2024.1340694
中图分类号:
R74 [神经病学与精神病学];
学科分类号:
摘要:
Spinal and bulbar muscular atrophy (SBMA) is an X-linked recessive motor neuron disease caused by the expansion of cytosine-adenine-guanine (CAG) repeats in the androgen receptor (AR) gene. It is thought that the nuclear translocation of abnormal AR proteins following binding to testosterone triggers the onset of the disease. We report the case of a patient who had SBMA coincident with Klinefelter syndrome. He developed SBMA symptoms rapidly after receiving androgen replacement therapy for Klinefelter syndrome. No cases of coincident SBMA and Klinefelter syndrome have been reported, and if confirmed by further patients in future, that androgen hormones are strongly associated with the development and progression of SBMA in fact in humans.
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