Journal
NEUROLOGY
Volume 55, Issue 9, Pages 1388-1390Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.55.9.1388
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Autosomal dominant hereditary spastic paraplegia is genetically heterogeneous, with at least five loci identified by linkage analysis. Recently, mutations in spastin were identified in SPG4, the most common locus for dominant hereditary spastic paraplegia that was previously mapped to chromosome 2p22. We identified five novel mutations in the spastin gene in five families with SPG4 mutations from North America and Tunisia and showed the absence of correlation between the predicted mutant spastin protein and age at onset of symptoms.
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