Costeff H, Gadoth N, Apter N, Prialnic M, Savir H
Neuropediatric Unit, Loewenstein Hospital Rehabilitation Center, Ra'anana, Israel.
Neurology. 1989 Apr;39(4):595-7. doi: 10.1212/wnl.39.4.595.
We describe 19 cases of a familial syndrome consisting of infantile optic atrophy and an early movement disorder in which chorea predominated. About one-half the patients developed spastic paraparesis during the second decade of life. Ataxia and cognitive deficits were common, usually of mild degree. Seventeen of the patients were females. Sixteen had similarly affected siblings, but none had affected parents. All but one belonged to the Iraqi Jewish community in Israel, giving a minimal prevalence rate in this ethnic group of about 1:10,000.
我们描述了19例一种家族性综合征，其特征为婴儿期视神经萎缩和以舞蹈症为主的早期运动障碍。约一半患者在生命的第二个十年出现痉挛性截瘫。共济失调和认知缺陷很常见，通常程度较轻。17例患者为女性。16例患者有同样受影响的兄弟姐妹，但没有受影响的父母。除1例患者外，其余均属于以色列的伊拉克犹太社区，该族群的最低患病率约为1:10000。
