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INTRODUCTION

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The diagnosis of hereditary spastic paraparesis (HSP) is based on the identification of a phenotype characterized as a slowly progressive, symmetric, spastic paraparesis in which the morbidity is largely related to impaired leg control rather than weakness, with or without recognition of other family members. The prevalence of dominantly inherited HSP, at least in Ireland, is estimated at 1.27/105.1 Like many of the disorders discussed in this text, the nosology of HSP is confounded by insights generated by molecular biology. The HSP phenotype is now recognized to result from mutations involving at least 50 different genetic loci and 18 identified genes (Table 7-1).2 Despite the potential precision that a classification system based solely on gene location and gene product would provide, it remains an impractical bedside tool. Due to current limitations of genetic testing, a pragmatic classification system requires at least some consideration of clinical features. This chapter will attempt to provide a classification hybrid that addresses both clinical and genetic considerations (Table 7-1).

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TABLE 7-1.HEREDITARY SPASTIC PARAPARESIS 2,3

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