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- Title
Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism?
- Authors
Bakowska, Joanna C; Wang, Heng; Xin, Baozhong; Sumner, Charlotte J; Blackstone, Craig
- Abstract
Hereditary spastic paraplegias (SPG1-SPG33) are characterized by progressive spastic weakness of the lower limbs. A nucleotide deletion (1110delA) in the (SPG20; OMIM 275900) spartin gene is the origin of autosomal recessive Troyer syndrome. This mutation is predicted to cause premature termination of the spartin protein. However, it remains unknown whether this truncated spartin protein is absent or is present and partially functional in patients.
- Publication
Archives of neurology, 2008, Vol 65, Issue 4, p520
- ISSN
1538-3687
- Publication type
Journal Article
- DOI
10.1001/archneur.65.4.520