Service of Neurology, University Hospital Marqués de Valdecilla (IFIMAV), 39008, Santander, Spain.
Cerebellum. 2013 Aug;12(4):437-40. doi: 10.1007/s12311-012-0434-y.
The aim of this study is to assess the presence of substantia nigra (SN) hypoechogenicity in a cohort of Friedreich's ataxia (FRDA) patients and its possible association with restless syndrome (RLS). Fourteen genetically confirmed FRDA patients and 14 sex- and age-matched healthy controls underwent transcranial sonography examination to evaluate the area of echogenicity of the SN. Both groups were clinically assessed with the essential and additional diagnostic criteria for RLS established by the International RLS Study Group. Ataxia was evaluated using the Scale for the Assessment and Rating of Ataxia. We did not find significant differences between the mean sum area of SN echogenicity in FRDA patients and in controls. Only one patient in the FDRA group and two control subjects showed SN hypoechogenicity. Two out of the 14 FDRA patients and one of the controls fulfilled diagnostic criteria for RLS. The areas of SN echogenicity in the two FRDA patients with RLS were the lowest found in this group. We conclude that our data do not support the notion that SN hypoechogenicity is related to FRDA itself, although it might be associated with RLS.
本研究旨在评估弗里德赖希共济失调症 (FRDA) 患者黑质 (SN) 低回声的存在及其与不宁腿综合征 (RLS) 的可能关联。14 名经基因确诊的 FRDA 患者和 14 名性别和年龄匹配的健康对照者接受了经颅超声检查，以评估 SN 回声的区域。两组均采用国际 RLS 研究组制定的 RLS 的基本和附加诊断标准进行临床评估。共济失调使用共济失调评估量表进行评估。我们没有发现 FRDA 患者和对照组之间 SN 回声的平均总面积存在显著差异。在 FRDA 组中仅有 1 名患者和对照组的 2 名受试者表现出 SN 低回声。在 14 名 FRDA 患者中有 2 名和对照组中有 1 名符合 RLS 的诊断标准。在有 RLS 的 2 名 FRDA 患者中，SN 回声的区域是该组中发现的最低的。我们的结论是，我们的数据不支持 SN 低回声与 FRDA 本身有关的观点，尽管它可能与 RLS 有关。
