Adams C, Starkman S, Pulst S M
Division of Neurology, CSMC Burns and Allen Research Institute, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA 90048, USA.
Neurology. 1997 Oct;49(4):1163-6. doi: 10.1212/wnl.49.4.1163.
We describe patients from five generations of a pedigree with mutations in the spinocerebellar ataxia type 2 gene (SCA2). The predominant clinical features observed included both appendicular and truncal ataxia, dysarthria, slowness of saccades, and impaired optokinetic responses. Successive generations demonstrated both earlier ages of onset as well as increasing numbers of trinucleotide repeat sequences. The signs found in this family are compared with the description of other families with SCA2 as well as with other types of dominantly inherited spinocerebellar ataxias.
我们描述了一个家系五代人中患有2型脊髓小脑共济失调（SCA2）基因突变的患者。观察到的主要临床特征包括四肢和躯干共济失调、构音障碍、扫视缓慢以及视动反应受损。连续几代人表现出发病年龄提前以及三核苷酸重复序列数量增加。将这个家族中发现的体征与其他患有SCA2的家族以及其他类型的显性遗传性脊髓小脑共济失调的描述进行了比较。
