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.
journal_name
J Neurogenetjournal_title
Journal of neurogeneticsauthors
Albin RL,Koeppe RA,Rainier S,Fink JKdoi
10.1080/01677060802337307subject
Has Abstractpub_date
2008-01-01 00:00:00pages
289-94issue
4eissn
0167-7063issn
1563-5260pii
906553044journal_volume
22pub_type
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