Background

Gait impairment and its etiologic correlate has not previously been subject of special attention in Batten disease.

Methods

In the present review, the clinical picture of gait phenotype during Batten disease course accompanied by descriptions of the known concomitant patho-anatomical changes is presented.

Results

In CLN1 a non-rhythmic gait is seen around 1-1½ years of age. Shortly after, postural hypotonia and exaggerated tendon reflexes develop. The disease reaches a burnt-out stage during the third year of age and subsequently the children are almost without voluntary movements. The existing literature indicates that gait phenotype in CLN1 is caused by early involvement of the spinal interneurons followed by impact of the cortex and the cortico-spinal tracts. The earliest walking abnormality in children with CLN2 is a clumsy, ataxic, and spastic gait, which is in accordance with the existing imaging and histologic studies showing early involvement of the cerebellum and the cortico-spinal pathways. In CLN3, a reduction in walking speed is present at the age of 7–8 years. It occurs simultaneously with a reduction in the white matter microstructure and brain connectivity networks. Functional impairment of the basal ganglia contributing to a parkinsonian gait phenotype occurs in the mid-teens. In the late teens and early twenties involvement of the peripheral nerves, neurogenic musculoskeletal atrophy, loss of tendon reflexes and postural control are seen.

Conclusion

The progressively impaired gait function in Batten disease is related to timing of damage of distinct areas of the nervous system depending on subtype and is a powerful marker of disease progression.

中文翻译：

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Batten病的步态表型：疾病进展的标志

背景

步态障碍及其病因相关性以前在 Batten 病中并未受到特别关注。

方法

在本综述中，介绍了 Batten 病程中步态表型的临床图片，以及对已知伴随病理解剖学变化的描述。

结果

在 CLN1 中，在 1-1½ 岁左右可以看到非节律性步态。不久之后，出现姿势性肌张力减退和过度的腱反射。这种疾病在三岁时达到倦怠期，随后孩子们几乎没有自主运动。现有文献表明，CLN1 中的步态表型是由脊髓中间神经元的早期参与引起的，随后是皮质和皮质脊髓束的影响。CLN2患儿最早的行走异常是笨拙、共济失调和痉挛步态，这与现有的影像学和组织学研究显示小脑和皮质脊髓通路的早期受累一致。在 CLN3 中，步行速度在 7-8 岁时出现下降。它与白质微观结构和大脑连接网络的减少同时发生。导致帕金森步态表型的基底神经节功能障碍发生在青少年时期。在十几岁和二十岁出头的时候，可以看到周围神经受累、神经源性肌肉骨骼萎缩、腱反射丧失和姿势控制。

结论

Batten 病的步态功能逐渐受损与神经系统不同区域的损伤时间有关，具体取决于亚型，并且是疾病进展的有力标志。