Purpose of Review

The hereditary spastic paraplegias (HSPs) are a group of disorders characterised by progressive lower limb weakness and spasticity. We address the challenges and controversies involved in the genetic diagnosis of HSP.

Recent Findings

There is a large and rapidly expanding list of genes implicated in HSP, making it difficult to keep gene testing panels updated. There is also a high degree of phenotypic overlap between HSP and other disorders, leading to problems in choosing the right panel to analyse. We discuss genetic testing strategies for overcoming these diagnostic hurdles, including the use of targeted sequencing gene panels, whole-exome sequencing and whole-genome sequencing. Personalised treatments for HSP are on the horizon, and a genetic diagnosis may hold the key to access these treatments.

Summary

Developing strategies to overcome the challenges and controversies in HSP may hold the key to a rapid and accurate genetic diagnosis.

中文翻译：

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遗传性痉挛性截瘫遗传诊断的挑战和争议

审查目的

遗传性痉挛性截瘫（HSP）是一组以进行性下肢无力和痉挛为特征的疾病。我们解决了HSP基因诊断中涉及的挑战和争议。

最近的发现

HSP中涉及的基因数量庞大且正在迅速扩展，这使得保持基因检测专家组的更新非常困难。HSP与其他疾病之间也存在高度的表型重叠，从而导致在选择正确的面板进行分析时出现问题。我们讨论了克服这些诊断障碍的基因测试策略，包括使用靶向测序基因组，全外显子组测序和全基因组测序。HSP的个性化治疗即将到来，遗传诊断可能是获得这些治疗的关键。

概括

制定克服HSP挑战和争议的策略可能是快速准确进行基因诊断的关键。