Albin Roger L, Koeppe Robert A, Rainier Shirley, Fink John K
Geriatrics Research, Education, and Clinical Center, Ann Arbor VAHS, Ann Arbor, Michigan 48109-2200, USA.
J Neurogenet. 2008;22(4):289-94. doi: 10.1080/01677060802337307.
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.
痉挛性截瘫3型（SPG3A）/atlastin-1基因突变导致常染色体显性遗传型遗传性痉挛性截瘫（SPG3A-HSP）。我们使用[（11）C]DTBZ正电子发射断层扫描来评估两名因常见的SPG3A/atlastin-1突变R239C而患SPG3A-HSP的无关成年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。与人类神经退行性变模式的差异是这种SPG3A-HSP果蝇模型的一个关键局限性。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。
