Neuromuscular Research Center, Tampere University and University Hospital, Tampere, Finland.
Department of Neurology, Turku University Hospital, Turku, Finland.
Neuromuscul Disord. 2014 Mar;24(3):259-68. doi: 10.1016/j.nmd.2013.11.010. Epub 2013 Nov 26.
We previously described two Finnish families with a new autosomal dominant late-onset spinal motor neuronopathy that was mapped to chromosome 22q11.2-q13.2. In the current screening study of 43 lower motor neuron disease patients from Finland and Sweden, we identified 26 new late-onset spinal motor neuronopathy patients sharing the founder haplotype. In addition to the main symptoms and signs: painful cramps, fasciculations, areflexia and slowly evolving muscle weakness, new features such as mild bulbar findings, were identified. The disease is relatively benign in terms of life expectancy and rate of disability progression, and it is therefore noteworthy that three patients were initially misdiagnosed with ALS. Significant recombinants in this new patient cohort restricted the disease locus by 90% to 1.8Mb. Late-onset spinal motor neuronopathy seems not to be very rare, at least not in Finland, with 38 patients identified in a preliminary ascertainment.
我们之前描述了两个芬兰家族的新常染色体显性迟发性脊髓运动神经元病，该疾病定位于 22q11.2-q13.2。在当前对来自芬兰和瑞典的 43 名下运动神经元病患者的筛查研究中，我们发现了 26 名具有共同创始单倍型的新的迟发性脊髓运动神经元病患者。除了主要症状和体征：疼痛性痉挛、肌束震颤、反射消失和逐渐进展的肌无力外，还发现了一些新的特征，如轻微的球部发现。就预期寿命和残疾进展速度而言，该疾病相对良性，因此值得注意的是，有三名患者最初被误诊为 ALS。在这个新的患者群体中，明显的重组将疾病定位缩小到 90%至 1.8Mb。迟发性脊髓运动神经元病似乎并不罕见，至少在芬兰不是，初步确定有 38 名患者。
