Baumann Fusun, Rose Stephen E, Nicholson Garth A, Hutchinson Nicole, Pannek Kerstin, Pettitt Anthony, Mccombe Pamela A, Henderson Robert D
Department of Neurology, Royal Brisbane and Women's Hospital, Queensland, Australia.
Amyotroph Lateral Scler. 2010 Oct;11(5):486-9. doi: 10.3109/17482961003774428.
ALS is a fatal disease with variable clinical course. There is no single reliable marker of disease progression. Sufficient records were available to study the case history of four family members with the uncommon G93V SOD1 mutation. Distal lower motor neuron (LMN) involvement occurred in all family members with onset from 30 to 51 years of age, with progression over more than six years. Between 2002 and 2009, we used electrophysiology as a biomarker to study disease progression in one patient, assessing the number of motor units in three nerves from different limbs. The loss of motor units showed an exponential decline with different half-lives in different nerves. Diffusion tractography was compared with a control to assess upper motor neuron (UMN) involvement and showed asymmetric evidence of abnormalities of the corticospinal tracts, providing evidence of central involvement despite the absence of UMN signs.
肌萎缩侧索硬化症（ALS）是一种临床病程多变的致命疾病。目前尚无单一可靠的疾病进展标志物。有足够的记录可用于研究四名携带罕见G93V超氧化物歧化酶1（SOD1）突变的家庭成员的病史。所有家庭成员均出现远端下运动神经元（LMN）受累，发病年龄在30至51岁之间，病程超过六年。2002年至2009年期间，我们将电生理作为生物标志物，对一名患者的疾病进展进行研究，评估来自不同肢体的三条神经中的运动单位数量。运动单位的丢失呈指数下降，不同神经的半衰期不同。将弥散张量成像与对照组进行比较，以评估上运动神经元（UMN）受累情况，结果显示皮质脊髓束存在不对称的异常证据，尽管没有UMN体征，但仍提供了中枢受累的证据。
