Oxford Alexandra E, Jorcyk Cheryl L, Oxford Julia Thom
Boise State University, Department of Biological Sciences, Biomolecular Research Center, 1910 University Drive, Boise State University, Boise, ID 83725.
J Neurol Neuromedicine. 2016;1(7):37-44. doi: 10.29245/2572.942x/2016/7.1068.
Stüve-Wiedemann syndrome (STWS; OMIM #610559) is a rare disease that results in dysfunction of the autonomic nervous system, which controls involuntary processes such as breathing rate and body temperature. In infants, this can result in respiratory distress, feeding and swallowing difficulties, and hyperthermic episodes. Individuals may sweat excessively when body temperature is not elevated. Additionally, individuals have reduced ability to feel pain and may lose reflexes such as the corneal reflex that normally causes one to blink, and the patellar reflex resulting in the knee-jerk. STWS usually results in infant mortality, yet some STWS patients survive into early adulthood. STWS is caused by a mutation in the leukemia inhibitory factor receptor () gene, which is inherited in an autosomal-recessive pattern. Most mutations resulting in STWS cause instability of the mRNA due to frameshift mutations leading to premature stop codons, which prevent the formation of LIFR protein. STWS is managed on a symptomatic basis as no treatment is currently available.
施图韦-维德曼综合征（STWS；OMIM编号#610559）是一种罕见疾病，会导致自主神经系统功能障碍，自主神经系统控制着诸如呼吸频率和体温等非自主过程。在婴儿中，这可能导致呼吸窘迫、喂养和吞咽困难以及体温过高发作。当体温未升高时，个体可能会过度出汗。此外，个体感觉疼痛的能力降低，可能会丧失一些反射，如正常情况下会导致人眨眼的角膜反射以及导致膝跳的髌反射。STWS通常会导致婴儿死亡，但一些STWS患者能存活至成年早期。STWS是由白血病抑制因子受体（）基因突变引起的，该基因以常染色体隐性模式遗传。大多数导致STWS的突变由于移码突变导致过早出现终止密码子，从而使mRNA不稳定，阻止了LIFR蛋白的形成。由于目前尚无治疗方法，STWS以对症治疗为主。
