Spastic Paraplegia Type 7 and Movement Disorders: Beyond the Spastic Paraplegia
Spastic Paraplegia Type 7 and Movement Disorders: Beyond the Spastic Paraplegia
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DOI：
10.1002/mdc3.13437
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发表时间：
2022-04-01
影响因子：
4
通讯作者：
Zuniga-Ramirez, Carlos
中科院分区：
文献类型：
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作者：
Saenz-Farret, Michel;Lang, Anthony E.;Zuniga-Ramirez, Carlos
背景痉挛性截瘫7型（SPG7）突变既可以表现为单纯的形式，也可以表现为伴有运动障碍的复杂表型。目的描述与运动障碍相关的SPG7基因突变的主要特征。方法分析与运动障碍相关的SPG7基因突变患者的临床和临床旁信息。结果共确定了11个家庭的16名患者。男性居多（10 / 16），平均发病年龄41.25±16.1岁。A小脑综合征是最常见的临床运动障碍表型（7 / 16）；然而，帕金森病（16例中2例）、肌张力障碍（16例中1例）以及它们之间的混合表型也被观察到。在四名受试者中发现了“山猫的耳朵”标志。共发现9个SPG7变体，其中最常见的是c.1529C > T （p.Ala510Val）。结论该病例系列扩展了与SPG7突变相关的运动表型。临床医生必须在合并运动障碍的单一或家族病例中考虑这一实体。
Background Spastic paraplegia type 7 (SPG7) mutations can present either as a pure form or a complex phenotype with movement disorders. Objective Describe the main features of subjects with SPG7 mutations associated with movement disorders. Methods We analyzed the clinical and paraclinical information of subjects with SPG7 mutations associated with movement disorders. Results Sixteen affected subjects from 11 families were identified. Male sex predominated (10 of 16) and the mean age at onset was 41.25 +/- 16.1 years. A cerebellar syndrome was the most frequent clinical movement disorder phenotype (7 of 16); however, parkinsonism (2 of 16), dystonia (1 of 16), and mixed phenotypes between them were also seen. The "ears of the lynx" sign was found in four subjects. A total of nine SPG7 variants were found, of which the most frequent was the c.1529C > T (p.Ala510Val). Conclusion This case series expands the motor phenotype associated with SPG7 mutations. Clinicians must consider this entity in single or familial cases with combined movement disorders.