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.
引用
收藏
页数:5
相关论文
共 50 条
  • [41] The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy
    Rosenbohm, Angela
    Hirsch, Susanne
    Volk, Alexander E.
    Grehl, Torsten
    Grosskreutz, Julian
    Hanisch, Frank
    Herrmann, Andreas
    Kollewe, Katja
    Kress, Wolfram
    Meyer, Thomas
    Petri, Susanne
    Prudlo, Johannes
    Wessig, Carsten
    Mueller, Hans-Peter
    Dreyhaupt, Jens
    Weishaupt, Jochen
    Kubisch, Christian
    Kassubek, Jan
    Weydt, Patrick
    Ludolph, Albert C.
    JOURNAL OF NEUROLOGY, 2018, 265 (05) : 1026 - 1036
  • [42] Recovery of function in a myogenic mouse model of spinal bulbar muscular atrophy
    Johansen, Jamie A.
    Yu, Zhigang
    Mo, Kaiguo
    Monks, D. Ashley
    Lieberman, Andrew P.
    Breedlove, S. Marc
    Jordan, Cynthia L.
    NEUROBIOLOGY OF DISEASE, 2009, 34 (01) : 113 - 120
  • [43] Correlation of insulin resistance and motor function in spinal and bulbar muscular atrophy
    Nakatsuji, Hideaki
    Araki, Amane
    Hashizume, Atsushi
    Hijikata, Yasuhiro
    Yamada, Shinichiro
    Inagaki, Tomonori
    Suzuki, Keisuke
    Banno, Haruhiko
    Suga, Noriaki
    Okada, Yohei
    Ohyama, Manabu
    Nakagawa, Tohru
    Kishida, Ken
    Funahashi, Tohru
    Shimomura, Iichiro
    Okano, Hideyuki
    Katsuno, Masahisa
    Sobue, Gen
    JOURNAL OF NEUROLOGY, 2017, 264 (05) : 839 - 847
  • [44] Contractile dysfunction in muscle may underlie androgen-dependent motor dysfunction in spinal bulbar muscular atrophy
    Oki, Kentaro
    Halievski, Katherine
    Vicente, Laura
    Xu, Youfen
    Zeolla, Donald
    Poort, Jessica
    Katsuno, Masahisa
    Adachi, Hiroaki
    Sobue, Gen
    Wiseman, Robert W.
    Breedlove, S. Marc
    Jordan, Cynthia L.
    JOURNAL OF APPLIED PHYSIOLOGY, 2015, 118 (07) : 941 - 952
  • [45] Distinct acoustic features in spinal and bulbar muscular atrophy patients with laryngospasm
    Tanaka, Seiya
    Banno, Haruhiko
    Katsuno, Masahisa
    Suzuki, Keisuke
    Suga, Noriaki
    Hashizume, Atsushi
    Mano, Tomoo
    Araki, Amane
    Watanabe, Hirohisa
    Adachi, Hiroaki
    Tatsumi, Hiroshi
    Yamamoto, Masahiko
    Sobue, Gen
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2014, 337 (1-2) : 193 - 200
  • [46] Myotonia-like symptoms in a patient with spinal and bulbar muscular atrophy
    Araki, Kunihiko
    Nakanishi, Hirotaka
    Nakamura, Tomohiko
    Atsuta, Naoki
    Yamada, Shinichiro
    Hijikata, Yasuhiro
    Hashizume, Atsushi
    Suzuki, Keisuke
    Katsuno, Masahisa
    Sobue, Gen
    NEUROMUSCULAR DISORDERS, 2015, 25 (11) : 913 - 915
  • [47] Pathogenesis, animal models and therapeutics in Spinal and bulbar muscular atrophy (SBMA)
    Katsuno, Masahisa
    Adachi, Hiroaki
    Waza, Masahiro
    Banno, Haruhiko
    Suzuki, Keisuke
    Tanaka, Fumiaki
    Doyu, Manabu
    Sobue, Gen
    EXPERIMENTAL NEUROLOGY, 2006, 200 (01) : 8 - 18
  • [48] Spinal and bulbar muscular atrophy combined with hypertrophic cardiomyopathy and Brugada-pattern electrocardiographic changes: A case report
    Liu, Tian
    Weng, Haoyu
    Ding, Wenhui
    Chu, Xujun
    Li, Jianping
    ECHOCARDIOGRAPHY-A JOURNAL OF CARDIOVASCULAR ULTRASOUND AND ALLIED TECHNIQUES, 2023, 40 (11): : 1276 - 1279
  • [49] Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients
    Grunseich, Christopher
    Zukosky, Kristen
    Kats, Ilona R.
    Ghosh, Laboni
    Harmison, George G.
    Bott, Laura C.
    Rinaldi, Carlo
    Chen, Ke-lian
    Chen, Guibin
    Boehm, Manfred
    Fischbeck, Kenneth H.
    NEUROBIOLOGY OF DISEASE, 2014, 70 : 12 - 20
  • [50] Congenital Segmental Spinal Muscular Atrophy: A Case Report
    Savas, Tulin
    Erol, Ilknur
    Ozkale, Yasemin
    Saygi, Semra
    JOURNAL OF CHILD NEUROLOGY, 2015, 30 (04) : 509 - 512