Although hereditary ataxias are a group of clinically and genetically heterogeneous disorders, specific clinical clues can sometimes incriminate certain genes. This can trigger genetic testing in sporadic patients or prompt dissecting certain genes more thoroughly when initial genetic testing is negative. Also for the assembly of gene panels and interpretation of the results, genotype−phenotype correlations remain important to establish.

中文翻译：

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RNF170 突变导致具有可变锥体受累的常染色体显性感觉共济失调

尽管遗传性共济失调是一组临床和遗传异质性疾病，但特定的临床线索有时可以与某些基因有关。这可以触发散发性患者的基因检测，或者在初始基因检测为阴性时提示更彻底地解剖某些基因。同样对于基因组的组装和结果的解释，基因型 - 表型相关性仍然很重要。