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References

These sources were used to develop the Genetics Home Reference condition summary on Troyer syndrome.

Auer-Grumbach M, Fazekas F, Radner H, Irmler A, Strasser-Fuchs S, Hartung HP. Troyer syndrome: a combination of central brain abnormality and motor neuron disease? J Neurol. 1999 Jul;246(7):556-61. PubMed citation
Bakowska JC, Jupille H, Fatheddin P, Puertollano R, Blackstone C. Troyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor trafficking. Mol Biol Cell. 2007 May;18(5):1683-92. Epub 2007 Mar 1. PubMed citation
Burgunder JM, Hunziker W. Hereditary spastic paraplegia: clues from a rare disorder for a common problem? IUBMB Life. 2003 Jun;55(6):347-52. Review. PubMed citation
Patel H, Cross H, Proukakis C, Hershberger R, Bork P, Ciccarelli FD, Patton MA, McKusick VA, Crosby AH. SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nat Genet. 2002 Aug;31(4):347-8. Epub 2002 Jul 22. PubMed citation
Proukakis C, Cross H, Patel H, Patton MA, Valentine A, Crosby AH. Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia. J Neurol. 2004 Sep;251(9):1105-10. PubMed citation
Reid E. Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias. J Med Genet. 2003 Feb;40(2):81-6. Review. PubMed citation

Reviewed: January 2008

Published: May 20, 2013