Sáenz-Farret Michel, Lang Anthony E, Kalia Lorraine, Cunha Inês, Sousa Mário, Kuhlman Greg, Ganos Christos, Munhoz Renato P, Fasano Alfonso, Piña-Avilés Carlos Eduardo, Zúñiga-Ramírez Carlos
Edmond J. Safra Program in Parkinson's Disease and Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital and Division of Neurology, UHN, Division of Neurology University of Toronto Toronto Ontario Canada.
Krembil Brain Institute Toronto Ontario Canada.
Mov Disord Clin Pract. 2022 Apr 1;9(4):522-529. doi: 10.1002/mdc3.13437. eCollection 2022 May.
Spastic paraplegia type 7 (SPG7) mutations can present either as a pure form or a complex phenotype with movement disorders.
Describe the main features of subjects with SPG7 mutations associated with movement disorders.
We analyzed the clinical and paraclinical information of subjects with SPG7 mutations associated with movement disorders.
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).
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.
7型痉挛性截瘫（SPG7）突变可表现为单纯型或伴有运动障碍的复杂表型。
描述与运动障碍相关的SPG7突变患者的主要特征。
我们分析了与运动障碍相关的SPG7突变患者的临床和辅助检查信息。
确定了来自11个家庭的16名受影响患者。男性居多（16例中有10例），平均发病年龄为41.25±16.1岁。小脑综合征是最常见的临床运动障碍表型（16例中有7例）；然而，也观察到帕金森综合征（16例中有2例）、肌张力障碍（16例中有1例）以及它们之间的混合表型。在4例患者中发现了“猞猁耳”征。共发现9种SPG7变体，其中最常见的是c.1529C>T（p.Ala510Val）。
该病例系列扩展了与SPG7突变相关的运动表型。临床医生在处理伴有运动障碍的散发性或家族性病例时必须考虑到这一疾病。
