Spastic paraplegia type 7 (SPG7) is one of the most common hereditary spastic paraplegias. SPG7 mutations most often lead to spastic paraparesis (HSP) and/or hereditary cerebellar ataxia (HCA), frequently with mixed phenotypes. We sought to clinically and genetically characterize a Spanish cohort of SPG7 patients. Patients were recruited from our HCA and HSP cohorts. We identified twenty-one patients with biallelic pathogenic SPG7 mutations. Mean age at onset was 37.4 years (SD ± 14.3). The most frequent phenotype was spastic ataxia (57%), followed by pure spastic paraplegia (19%) and complex phenotypes (19%). Isolated patients presented with focal or multifocal dystonia, subclinical myopathy or ophthalmoplegia. p.Ala510Val was the most frequent pathogenic variant encountered. Compound heterozygous for p.Ala510Val displayed younger onset (p < 0.05) and more complex phenotypes (p < 0.05) than p.Ala510Val homozygotes. Two novel variants were found: p.Lys559Argfs*33 and p.Ala312Glu. In conclusion, spastic ataxia is the most common phenotype found in Spanish patients. Nonetheless, SPG7 analysis should also be considered in patients with less frequent clinical findings such as dystonia or ophthalmoplegia especially when these symptoms are associated with mild spastic ataxia.

痉挛性截瘫 7 型 (SPG7) 是最常见的遗传性痉挛性截瘫之一。SPG7突变最常导致痉挛性截瘫 (HSP) 和/或遗传性小脑共济失调 (HCA)，通常具有混合表型。我们试图在临床和基因上表征西班牙的 SPG7 患者队列。患者是从我们的 HCA 和 HSP 队列中招募的。我们确定了 21 名双等位基因致病性SPG7患者突变。平均发病年龄为 37.4 岁 (SD ± 14.3)。最常见的表型是痉挛性共济失调（57%），其次是单纯的痉挛性截瘫（19%）和复杂表型（19%）。孤立的患者表现为局灶性或多灶性肌张力障碍、亚临床肌病或眼肌麻痹。p.Ala510Val 是最常见的致病性变异。p.Ala510Val 的复合杂合子比 p.Ala510Val 纯合子表现出更年轻的发病 ( p  < 0.05) 和更复杂的表型 (p < 0.05)。发现了两个新变体：p.Lys559Argfs*33 和 p.Ala312Glu。总之，痉挛性共济失调是西班牙患者中最常见的表型。尽管如此，SPG7对于临床表现不常见的患者，如肌张力障碍或眼肌麻痹，尤其是当这些症状与轻度痉挛性共济失调相关时，也应考虑进行分析。