SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia
H Patel, H Cross, C Proukakis, R Hershberger, P Bork… - Nature …, 2002 - nature.com
Nature genetics, 2002•nature.com
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.
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.
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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