Clinical and genetic study of a large SP
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Antonio Orlacchio; Toshitaka Kawarai; Fabrizio Gaudiello; Antonio Totaro; Orazio
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Article
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2005
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John Wiley and Sons
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English
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## Abstract A novel __SPG4__ 906delT frameβshift mutation in exon 6 was identified in a large Italian family with an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Intrafamilial phenotypic variations observed in the pedigree included spasticity and additional clinical features, s