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Normal dopaminergic nigrostriatal innervation in SPG3A hereditary spastic paraplegia
Roger L Albin1, Robert A Koeppe, Shirley Rainier
1Geriatrics Research, Education, and Clinical Center, Ann Arbor VAHS, Ann Arbor, Michigan 48109-2200, USA. ralbin@umich.edu
Abstract:
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.
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