SPG3A/atlastin-1 gene mutations cause an autosomal dominant form of hereditary spastic paraplegia (SPG3A-HSP). We used positron emission tomography with [(11)C]DTBZ to assess nigrostriatal dopaminergic integrity in two unrelated adults with SPG3A-HSP due to the common SPG3A/atlastin-1 mutation, R239C. Nigrostriatal dopaminergic terminal density was normal. A difference from the human pattern of neurodegeneration is a critical limitation of this Drosophila model of SPG3A-HSP. This major difference between human SPG3A/atlastin-1 mutations and the Drosophila atl(l) phenotype has several possible explanations.

中文翻译：

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SPG3A 遗传性痉挛性截瘫中的正常多巴胺能黑质纹状体神经支配。

SPG3A/atlastin-1 基因突变导致常染色体显性遗传性痉挛性截瘫 (SPG3A-HSP)。由于常见的 SPG3A/atlastin-1 突变 R239C，我们使用正电子发射断层扫描和 [(11)C]DTBZ 来评估两个不相关的 SPG3A-HSP 成人的黑质纹状体多巴胺能完整性。黑质纹状体多巴胺能终末密度正常。与人类神经变性模式的差异是这种 SPG3A-HSP 果蝇模型的关键限制。人类 SPG3A/atlastin-1 突变与果蝇 atl(l) 表型之间的这种主要差异有几种可能的解释。