Abstract
Troyer syndrome (TRS) is an autosomal recessive complicated hereditary spastic paraplegia (HSP) that occurs with high frequency in the Old Order Amish. We report mapping of the TRS locus to chromosome 13q12.3 and identify a frameshift mutation in SPG20, encoding spartin. Comparative sequence analysis indicates that spartin shares similarity with molecules involved in endosomal trafficking and with spastin, a molecule implicated in microtubule interaction that is commonly mutated in HSP.
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Acknowledgements
We thank the Amish families for their support, help and generosity; and R. Geiser and J. Hostetler for help with geneology. This work was supported by the Birth Defects Foundation (UK), the Wellcome Trust, and Research to Prevent Blindness.
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Patel, H., Cross, H., Proukakis, C. et al. SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nat Genet 31, 347–348 (2002). https://doi.org/10.1038/ng937
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DOI: https://doi.org/10.1038/ng937
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