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首页> 外文期刊>Journal of Neurology, Neurosurgery and Psychiatry >Patients with horizontal gaze palsy and progressive scoliosis due to ROBO3 E319K mutation have both uncrossed and crossed central nervous system pathways and perform normally on neuropsychological testing.
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Patients with horizontal gaze palsy and progressive scoliosis due to ROBO3 E319K mutation have both uncrossed and crossed central nervous system pathways and perform normally on neuropsychological testing.

机译：由于ROBO3 E319K突变而导致水平凝视麻痹和进行性脊柱侧弯的患者具有未交叉和交叉的中枢神经系统途径，并且在神经心理学测试中表现正常。

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摘要

BACKGROUND: Horizontal gaze palsy and progressive scoliosis (HGPPS) is caused by mutations of the ROBO3 gene, which encodes a receptor associated with axonal guidance during development. Although there is evidence for uncrossed cuneatal and corticospinal tracts in HGPPS, it is unclear whether other central nervous system pathways are involved. OBJECTIVE: To study two patients with HGPPS homozygotic for the ROBO3 E319K mutation using a variety of neurophysiological and neuropsychological tests. METHODS: A battery of neuropsychological tests was applied to assess various cognitive and perceptual functions. The corticospinal, somatosensory and auditory pathways were evaluated using appropriate neurophysiological tests. To access motor pathways to the neck muscles, electromyographic recordings were obtained from the sternocleidomastoideus and splenius capitis muscle during active head rotation. RESULTS: Both patients performed normally on manual dexterity, complex sensory and visuospatial functions, reading and general intelligence tests. Motor evoked potentials in both patients showed uncrossed corticospinal tracts for the extremities, although in one patient, electromyography indicated pyramidal tract crossing for the neck muscles. Although somatosensory evoked potentials showed uncrossed somatosensory fibres subserving proprioception and light touch, right median nerve somatosensory evoked potential in one patient indicated a partial lemniscal crossing. Sympathetic skin response and blink reflex showed a midline crossing of the spinothalamic and quintothalamic tracts. Brain stem auditory evoked potentials indicated a lack of crossing in the level of the trapezoid body. CONCLUSIONS: Our patients with the ROBO3 E319Kappa mutation show normal perceptual and cognitive functions and have both crossed and uncrossed motor, sensory and auditory pathways.
机译：背景：水平凝视性麻痹和进行性脊柱侧弯（HGPPS）是由ROBO3基因的突变引起的，该基因编码在发育过程中与轴突导向相关的受体。尽管有证据表明HGPPS中有不交叉的角膜和皮质脊髓束，但尚不清楚是否涉及其他中枢神经系统途径。目的：通过各种神经生理学和神经心理学测试研究两名HGPPS纯合子患者的ROBO3 E319K突变。方法：一组神经心理学测试被用于评估各种认知和知觉功能。使用适当的神经生理学测试评估了皮质脊髓，体感和听觉通路。为了进入运动至颈部肌肉的路径，在主动旋转头部时从胸锁乳突肌和脾脏脾炎肌获得了肌电图记录。结果：两名患者均正常进行手部敏捷，复杂的感觉和视觉空间功能，阅读和一般智力测试。两名患者的运动诱发电位显示四肢的皮质脊髓横道未交叉，尽管一名患者的肌电图显示颈部肌肉呈锥体横道交叉。尽管体感诱发电位显示出没有交叉的体感纤维，可以保持本体感受和轻触感，但是一名患者的右中神经体感诱发电位表明部分睑板交叉。交感性皮肤反应和眨眼反射显示出脊髓中丘脑和丘脑丘脑中线交叉。脑干听觉诱发电位表明梯形体水平缺乏交叉。结论：我们的ROBO3 E319Kappa突变患者表现出正常的知觉和认知功能，并且具有交叉和不交叉的运动，感觉和听觉通路。

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