Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, Tübingen, Germany.
Cerebellum. 2011 Mar;10(1):9-13. doi: 10.1007/s12311-010-0215-4.
Friedreich's ataxia (FA) is a multisystemic degenerative disease, but the prevalence of restless legs syndrome (RLS) is unknown. FA patients might be particularly susceptible to develop RLS as FA presents with features commonly associated with RLS, e.g. multisystemic network dysfunction, peripheral neuropathy and disturbances in subcellular brain iron homeostasis. In this work, we assessed the following: (1) the prevalence of RLS; (2) the prevalence of sonographic hypoechogenicity of the substantia nigra (SN), which is known to be associated with idiopathic RLS; and (3) the relation between both in 28 FA patients. Thirty-two percent of the patients suffered from RLS, thus clearly exceeding the prevalence rate in the general population. SN hypoechogenicity was more frequent in FA patients (61%) compared to healthy controls (7%) and was significantly associated with RLS. However, as SN echogenicity also correlated inversely with disease severity, it seems to be related not only to RLS, but also to the neurodegenerative process in FA itself. The high prevalence of RLS in FA patients warrants specific assessment by neurologists involved in the care of FA patients as treatments are readily available. Similar to patients with idiopathic RLS, reduced SN echogenicity is a frequent finding in FA, possibly indicating regional changes in subcellular brain iron regulation in FA.
弗里德里希共济失调（FA）是一种多系统退行性疾病，但不安腿综合征（RLS）的患病率尚不清楚。FA 患者可能特别容易患上 RLS，因为 FA 表现出与 RLS 常见相关的特征，例如多系统网络功能障碍、周围神经病和细胞内脑铁稳态紊乱。在这项工作中，我们评估了以下内容：（1）RLS 的患病率；（2）已知与特发性 RLS 相关的黑质（SN）超声低回声的患病率；以及（3）两者在 28 例 FA 患者中的关系。32%的患者患有 RLS，明显高于普通人群的患病率。与健康对照组（7%）相比，FA 患者的 SN 低回声更常见（61%），并且与 RLS 显著相关。然而，由于 SN 回声也与疾病严重程度呈负相关，因此它似乎不仅与 RLS 有关，而且与 FA 本身的神经退行性过程有关。FA 患者 RLS 的高患病率需要参与 FA 患者护理的神经科医生进行专门评估，因为治疗方法已经很容易获得。与特发性 RLS 患者类似，SN 回声降低是 FA 中的常见发现，可能表明 FA 中细胞内脑铁调节的区域变化。
