Kvistad P H, Dahl A, Skre H
Acta Neurol Scand. 1985 Apr;71(4):295-302. doi: 10.1111/j.1600-0404.1985.tb03203.x.
The case histories and clinical studies are given of 7 consanguineous patients, 4 adults and 3 children, with a rather uniform clinical picture of nonprogressive cerebellar ataxia manifesting in early childhood. Most patients have in addition slight spastic signs, short stature and normal intelligence. There are no signs of other organ pathology, biochemical aberrations, endocrine- or immunopathology. CT-scan and PEG show cerebellar atrophy. The pedigree analysis indicates an autosomal recessive mode of inheritance. The condition falls between the ataxic syndromes in the cerebral palsy range and the heredo-ataxias. Until now, no similar disorders seems to have been described.
本文给出了7例近亲患者的病历及临床研究情况，其中4例为成人，3例为儿童，他们在幼儿期均表现出较为一致的非进行性小脑共济失调临床症状。大多数患者还伴有轻微的痉挛体征、身材矮小且智力正常。未发现其他器官病变、生化异常、内分泌或免疫病理方面的体征。CT扫描和PEG显示小脑萎缩。系谱分析表明其遗传方式为常染色体隐性遗传。这种病症介于脑瘫范畴的共济失调综合征和遗传性共济失调之间。迄今为止，似乎尚未有类似病症的描述。
