Oculomotor phenotypes in autosomal dominant ataxias
Oculomotor phenotypes in autosomal dominant ataxias
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DOI：
10.1001/archneur.55.10.1353
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发表时间：
1998-10-01
影响因子：
--
通讯作者：
Baloh, RW
中科院分区：
文献类型：
--
作者：
Buttner, N;Geschwind, D;Baloh, RW
目的：量化常见的脊髓小脑性共济失调（SCA）syndromes.Setting的眼功能：大学共济失调诊所。患者：20名先证者与记录SCA mutations。方法：眼电记录扫视，平滑追求，视动，前庭，视觉前庭眼动。结果：不同的表型和基因型模式之间的模式与适度重叠。SCA1和SCA2患者的眼跳峰值速度减慢，SGA2患者100%出现眼跳峰值速度减慢，SCA3患者的前庭眼反射增益受损。SCA6患者有显着的赤字，但正常的扫视速度和vestibulocular reflex gains.Conclusions：ocularies的结果是一致的，纯小脑参与SCA6，脑桥参与SCA1和SCA2，和前庭神经或核参与SCA3。这些表型可用于临床诊断和研究SCA综合征的系统特异性机制。
Objective: To quantify the oculomotor features of the common spinocerebellar ataxia (SCA) syndromes.Setting: University ataxia clinic.Patients: Twenty probands with documented SCA mutations.Methods: Electro-oculographic recordings of saccadic, smooth pursuit, optokinetic, vestibular, and visual-vestibular eye movements.Results: Distinct phenotype and genotype patterns were identified with modest overlap between patterns. Slowing of saccade peak velocities occurred only in SCA1 and SCA2, being present in 100% of patients with SGA2, Impaired vestibule-ocular reflex gain occurred with SCA3 only. Patients with SCA6 had prominent deficits in smooth tracking but normal saccade velocities and vestibuloocular reflex gain.Conclusions: The oculomotor findings are consistent with pure cerebellar involvement in SCA6, pontine involvement in SCA1 and SCA2, and vestibular nerve or nuclei involvement in SCA3. These phenotypes can be useful for clinical diagnosis and for investigating the mechanism of system Specificity with the SCA syndromes.