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首页> 外文期刊>Journal of neurology >Striatal morphology correlates with sensory abnormalities in unaffected relatives of cervical dystonia patients.
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Striatal morphology correlates with sensory abnormalities in unaffected relatives of cervical dystonia patients.

机译：纹状体形态与宫颈肌张力障碍患者未受影响亲属的感觉异常有关。

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摘要

Structural grey matter abnormalities have been described in adult-onset primary torsion dystonia (AOPTD). Altered spatial discrimination thresholds are found in familial and sporadic AOPTD and in some unaffected relatives who may be non-manifesting gene carriers. Our hypothesis was that a subset of unaffected relatives with abnormal spatial acuity would have associated structural abnormalities. Twenty-eight unaffected relatives of patients with familial cervical dystonia, 24 relatives of patients with sporadic cervical dystonia and 27 control subjects were recruited. Spatial discrimination thresholds (SDTs) were determined using a grating orientation task. High-resolution magnetic resonance imaging (MRI) images (1.5 T) were analysed using voxel-based morphometry. Unaffected familial relatives with abnormal SDTs had reduced caudate grey matter volume (GMV) bilaterally relative to those with normal SDTs (right Z = 3.45, left Z = 3.81), where there was a negative correlation between SDTs and GMV (r = -0.76, r(2) = 0.58, p < 0.0001). Familial relatives also had bilateral sensory cortical expansion relative to unrelated controls (right Z = 4.02, left Z = 3.79). Unaffected relatives of patients with sporadic cervical dystonia who had abnormal SDTs had reduced putaminal GMV bilaterally compared with those with normal SDTs (right Z = 3.96, left Z = 3.45). Sensory abnormalities in some unaffected relatives correlate with a striatal substrate and may be a marker of genetic susceptibility in these individuals. Further investigation of grey matter changes as a candidate endophenotype may assist future genetic studies of dystonia.
机译：在成人发作的原发性扭转肌张力障碍（AOPTD）中已描述了结构性灰质异常。在家族性和散发性AOPTD中以及在一些未受影响的亲戚中可能发现了空间歧视阈值的改变，这些亲戚可能是非表现基因携带者。我们的假设是，空间视敏度异常的未受影响亲属的子集将具有相关的结构异常。招募了28例家族性颈肌张力障碍患者的亲属，散发性子宫颈肌张力障碍患者的24名亲属和27名对照对象。使用光栅定向任务确定空间辨别阈值（SDT）。使用基于体素的形态计量学分析高分辨率磁共振成像（MRI）图像（1.5 T）。 SDTs异常的家族亲属相对于正常SDTs的家族亲属双侧尾状灰质体积（GMV）减少（右Z = 3.45，左Z = 3.81），其中SDTs与GMV之间呈负相关（r = -0.76， r（2）= 0.58，p <0.0001）。相对于无关对照组，家族亲属也有双侧感觉皮层扩张（右Z = 4.02，左Z = 3.79）。 SDT异常的散发性子宫颈肌张力障碍患者的未受影响亲属与正常SDT相比，双侧足肠GMV降低（右Z = 3.96，左Z = 3.45）。一些未受影响亲属的感觉异常与纹状体底物相关，可能是这些个体遗传易感性的标志。对灰质变化作为候选内表型的进一步研究可能有助于将来对肌张力障碍的遗传学研究。

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