Brainstem and spinal cord motor neuron involvement with optineurin inclusions in proximal-dominant hereditary motor and sensory neuropathy
Brainstem and spinal cord motor neuron involvement with optineurin inclusions in proximal-dominant hereditary motor and sensory neuropathy
复制标题
DOI：
10.1136/jnnp-2011-300783
复制
发表时间：
2011-08
期刊：
影响因子：
--
通讯作者：
K. Fujita;Mari Yoshida;W. Sako;Kouji Maeda;Y. Hashizume;S. Goto;G. Sobue;Y. Izumi;R. Kaji
中科院分区：
文献类型：
--
作者：
K. Fujita;Mari Yoshida;W. Sako;Kouji Maeda;Y. Hashizume;S. Goto;G. Sobue;Y. Izumi;R. Kaji
近端显性遗传性运动和感觉神经病(HMSN-P)的特征是缓慢进行性近端显性萎缩和虚弱伴神经束、感觉障碍和常染色体显性遗传。1 HMSN-P在日本冲绳和关西已有报道，疾病基因定位于3q13.1.2。虽然这种疾病最初被描述为一种新的HMSN，但有时也被称为HMSN 2型或轴索型HMSN的一部分。另一方面，HMSN-P的一些临床特征类似于家族性肌萎缩侧索硬化症(ALS)。1在这里，我们报告一例HMSN-P尸检病例，其脊髓和脑干核团有明显的下运动神经元(LMN)损害。此外，我们发现视神经磷酸酶(OPTN)阳性包涵体，在散发性和家族性肌萎缩侧索硬化症中可见，4在本病例的受累神经元中。该患者为关西型HMSN-P的首发病例(家系1，IV：25)。3，男，因逐渐发展为肌肉萎缩、无力伴束状肌无力而入院治疗。当他51岁的时候，他爬楼梯有困难。发病五年后，他走路时需要支持。两年后，他无法独自站起来。几年后，他变得卧床不起。当他在的时候，他有吞咽困难，住院后开始管喂养。入院时的神经学检查显示面部、软腭和胸锁乳突肌无力和舌萎缩(图1A)；注意到近端优势无力和突出的束状物；深部…
Proximal-dominant hereditary motor and sensory neuropathy (HMSN-P) is characterised by slowly progressive proximal-dominant atrophy and weakness with fasciculations, sensory disturbance and autosomal dominant inheritance.1 HMSN-P has been reported in Okinawa and Kansai, Japan, and the disease locus was mapped to 3q13.1.2 3 The clinical entity of HMSN-P remains controversial. Although this disease was originally described as a new HMSN, it has sometimes been referred to as a part of HMSN type 2 or axonal HMSN. On the other hand, some clinical features of HMSN-P are similar to those of familial amyotrophic lateral sclerosis (ALS).1 Here, we report an autopsy case of HMSN-P that exhibited prominent lower motor neuron (LMN) lesions in the spinal cord and in the brainstem nuclei. Furthermore, we demonstrated optineurin (OPTN)-positive inclusions, which are seen in sporadic and familial ALS,4 in the affected neurons of the present case. The patient is the index case of Kansai-type HMSN-P (IV:25 of pedigree 1).3 A 64-year-old man was admitted to a hospital because of gradually developing muscle atrophy and weakness with fasciculations. When he was 51 years old, he had difficulty in climbing up stairs. Five years after the onset, he needed support when walking. Two years later, he was unable to stand up by himself. In a few years, he became bed-ridden. When he was at 64 years of age, he had dysphagia and started tube-feeding after hospitalisation. Neurological examination on admission showed weakness in the facial, soft palate and sternocleidomastoid muscles and tongue atrophy (figure 1A); proximal-dominant weakness and prominent fasciculations were noted; deep …