Division of Neurology and Gerontology, Department of Internal Medicine, School of Medicine, Iwate Medical University, Japan.
Intern Med. 2021 Mar 1;60(5):799-802. doi: 10.2169/internalmedicine.5201-20. Epub 2020 Oct 21.
In triple A (Allgrove) syndrome, motor neuron disease is a co-morbid condition. We herein report a 38-year-old Japanese man with triple A (Allgrove) syndrome and novel tandem mutations: a novel c.881delT deletion mutation and c.835C>T localized to the AAAS gene. A nerve conduction study revealed marked axonal damage in several motor nerves. Tandem mutations in the AAAS gene may be involved in co-morbid motor neuron disease and aberrant electrophysiological findings.
在三 A 综合征（Allgrove 综合征）中，运动神经元疾病是一种合并症。本文报道了一例 38 岁的日本男性三 A 综合征患者，存在 novel tandem mutations： novel c.881delT 缺失突变和 c.835C>T，定位于 AAAS 基因。神经传导研究显示多个运动神经存在明显的轴索损伤。AAAS 基因的串联突变可能与合并的运动神经元疾病和异常的电生理发现有关。
