Iwabuchi K, Kubota Y, Hanihara T, Nagatomo H
Department of Neuropathology, Tokyo Institute of Psychiatry, Japan.
No To Shinkei. 1994 Oct;46(10):941-7.
We report three patients with slowly progressive spastic paraplegia and dementia; MRI on these patients revealed hypoplasia of the corpus callosum. The mode of inheritance was supposed to be autosomal recessive. Patient 1 (26-year-old man) is an elder brother of patient 2 (21-year-old man). Their parents are first cousins. Patient 3 (woman), a sporadic case, died of pneumonia at the age of 44. Their motor development after the birth was normal, but patient 3 was mildly mentally retarded. Gait disturbance due to spastic paraplegia developed at the age of nine (patient 2), fifteen (patient 1) and nineteen (patient 3), respectively. They also showed slowly progressive mental deterioration. Patient 1 has also suffered from mild amyotrophy and sensory disturbance in the distal part of the extremities since the age of 25. Patient 3 was bed-ridden at the middle of her thirty's because of generalized amyotrophy and sensory disturbance in addition to spastic quadriplegia and profound dementia. Their MRI reveal the thinning of the corpus callosum. We think the thinning must be hypoplasia of the corpus callosum, because the cerebrum showed normal appearance on MRI in patient 1 and patient 2. These clinical findings and imaging studies are essentially similar to those of the cases reported by Iwabuchi et al (1991). We propose autosomal recessive HSP associated hypoplasia of the corpus callosum as a new type of HSP.
我们报告了三名患有缓慢进展性痉挛性截瘫和痴呆症的患者；对这些患者进行的磁共振成像（MRI）显示胼胝体发育不全。遗传方式被认为是常染色体隐性遗传。患者1（26岁男性）是患者2（21岁男性）的哥哥。他们的父母是近亲。患者3（女性）为散发病例，44岁时死于肺炎。他们出生后的运动发育正常，但患者3有轻度智力发育迟缓。因痉挛性截瘫导致的步态障碍分别在9岁（患者2）、15岁（患者1）和19岁（患者3）时出现。他们还表现出缓慢进展的精神衰退。患者1自25岁起四肢远端也出现了轻度肌萎缩和感觉障碍。患者3在三十多岁时因全身肌萎缩、感觉障碍、痉挛性四肢瘫和严重痴呆而卧床不起。他们的MRI显示胼胝体变薄。我们认为这种变薄一定是胼胝体发育不全，因为在患者1和患者2的MRI中大脑外观正常。这些临床发现和影像学研究与岩渊等人（1991年）报告的病例基本相似。我们提出常染色体隐性遗传性痉挛性截瘫伴胼胝体发育不全作为一种新型的痉挛性截瘫。
