Korinthenberg R, Sauer M, Ketelsen U P, Hanemann C O, Stoll G, Graf M, Baborie A, Volk B, Wirth B, Rudnik-Schöneborn S, Zerres K
Department of Neuropediatrics and Muscular Diseases, Albert-Ludwigs-Universität, Freiburg, Germany.
Ann Neurol. 1997 Sep;42(3):364-8. doi: 10.1002/ana.410420314.
Three newborn siblings presented with generalized weakness, asphyxia, facial diplegia, and external ophthalmoplegia. Electrophysiological testing showed inexcitability of motor and sensory nerves and myographic signs of denervation. Nerve biopsies and postmortem examination showed loss of myelinated fibers and axonal damage in sensory and mixed nerves. Many spinal motor neurons were chromatolytic although their number was normal. Molecular genetic investigations revealed a homozygous deletion of the survival motor neuron (SMN) gene and a loss of markers Ag1-CA and C212 in the paternal haplotype. These findings are consistent with the diagnosis of an unusually severe type of spinal muscular atrophy. Given the large extent of the deletion, it must be considered that the unusual severe phenotype with involvement of brainstem nuclei and afferent nerves might also be due to changes of yet unknown genes neighboring the SMN gene.
三名新生儿同胞出现全身无力、窒息、面瘫和外展神经麻痹。电生理检查显示运动和感觉神经无兴奋性以及去神经支配的肌电图表现。神经活检和尸检显示感觉神经和混合神经中有髓纤维丢失和轴突损伤。许多脊髓运动神经元出现染色质溶解，但其数量正常。分子遗传学研究显示存活运动神经元（SMN）基因纯合缺失，父本单倍型中标记物Ag1-CA和C212丢失。这些发现与一种异常严重类型的脊髓性肌萎缩症的诊断相符。鉴于缺失范围较大，必须考虑到累及脑干核团和传入神经的异常严重表型也可能归因于SMN基因邻近的未知基因的变化。
