Auer-Grumbach M, Strasser-Fuchs S, Wagner K, Körner E, Fazekas F
Department of Neurology, Karl-Franzens-University Graz, Austria.
J Neurol Sci. 1998 Jan 21;154(1):72-5. doi: 10.1016/s0022-510x(97)00218-9.
The Roussy-Lévy syndrome (MIM #180800) was described in 1926 as a disorder presenting with pes cavus and tendon areflexia, distal limb weakness, tremor in the upper limbs, gait ataxia and distal sensory loss. We report a family with affected members in four generations, showing these clinical signs of Roussy-Lévy syndrome and a partial duplication at chromosome 17p11.2. This genetic defect is commonly found in patients with the hypertrophic form of the Charcot-Marie-Tooth syndrome. Our finding provides evidence against the Roussy-Lévy syndrome as a distinct entity but suggests a close relation with the Charcot-Marie-Tooth syndrome. What causes the additional features of gait ataxia and essential tremor needs further clarification.
鲁西-勒维综合征（MIM #180800）于1926年被描述为一种伴有高弓足和腱反射消失、肢体远端无力、上肢震颤、步态共济失调及远端感觉丧失的疾病。我们报告了一个四代均有受累成员的家族，其成员表现出鲁西-勒维综合征的这些临床症状，并且在17p11.2染色体处存在部分重复。这种基因缺陷常见于肥厚型夏科-马里-图斯综合征患者中。我们的发现提供了证据，反对将鲁西-勒维综合征视为一个独立的疾病实体，但提示其与夏科-马里-图斯综合征关系密切。导致步态共济失调和特发性震颤这些额外特征的原因尚需进一步阐明。
