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1 - 2 of 2 results found for SPG20.

  1. SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia

    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

  2. Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary...

    Troyer syndrome, originally described in 1967 in an Old Order Amish population, is a complicated form of hereditary spastic paraplegia (HSP) inherited in an autosomal recessive fashion and slowly progressive. The cardinal features are spastic

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