Manto Mario, Hampe Christiane S
Neurology Service, CHU-Charleroi, Charleroi, Belgium; Neuroscience Service, Université de Mons, Mons, Belgium.
Department of Medicine, University of Washington, Seattle, United States.
Handb Clin Neurol. 2018;155:353-368. doi: 10.1016/B978-0-444-64189-2.00023-8.
Hormonal disorders are a source of cerebellar ataxia in both children and adults. Normal development of the cerebellum is critically dependent on thyroid hormone, which crosses both the blood-brain barrier and the blood-cerebrospinal fluid barrier thanks to specific transporters, including monocarboxylate transporter 8 and the organic anion-transporting polypeptide 1C1. In particular, growth and dendritic arborization of Purkinje neurons, synaptogenesis, and myelination are dependent on thyroid hormone. Disturbances of thyroid hormone may also impact on cerebellar ataxias of other origin, decompensating or aggravating the pre-existing ataxia manifesting with motor ataxia, oculomotor ataxia, and/or Schmahmann syndrome. Parathyroid disorders are associated with a genuine cerebellar syndrome, but symptoms may be subtle. The main conditions combining diabetes and cerebellar ataxia are Friedreich ataxia, ataxia associated with anti-GAD antibodies, autoimmune polyglandular syndromes, aceruloplasminemia, and cerebellar ataxia associated with hypogonadism (especially Holmes ataxia/Boucher-Neuhäuser syndrome). The general workup of cerebellar disorders should include the evaluation of hormonal status, including thyroid-stimulating hormone and free thyroxine levels, and hormonal replacement should be considered depending on the laboratory results. Cerebellar deficits may be reversible in some cases.
激素紊乱是儿童和成人小脑共济失调的一个病因。小脑的正常发育严重依赖甲状腺激素，甲状腺激素借助特定转运蛋白，包括单羧酸转运蛋白8和有机阴离子转运多肽1C1，穿过血脑屏障和血脑脊液屏障。特别是，浦肯野神经元的生长和树突分支、突触形成以及髓鞘形成均依赖甲状腺激素。甲状腺激素紊乱也可能影响其他原因引起的小脑共济失调，使已存在的共济失调失代偿或加重，表现为运动性共济失调、动眼性共济失调和/或施马曼综合征。甲状旁腺疾病与一种真正的小脑综合征相关，但症状可能不明显。合并糖尿病和小脑共济失调的主要疾病有弗里德赖希共济失调、抗谷氨酸脱羧酶抗体相关共济失调、自身免疫性多腺体综合征、无铜蓝蛋白血症以及性腺功能减退相关的小脑共济失调（尤其是霍姆斯共济失调/布歇-诺伊豪泽综合征）。小脑疾病的一般检查应包括激素状态评估，包括促甲状腺激素和游离甲状腺素水平，应根据实验室结果考虑激素替代治疗。在某些情况下，小脑功能缺损可能是可逆的。
