Abstract

RODRIGUES, Nádia et al. Hereditary spastic paraplegia type 4: anticipation or phenotypic variability?. Nascer e Crescer [online]. 2012, vol.21, n.1, pp.37-39. ISSN 0872-0754.

Introduction: Hereditary spastic paraplegia is a heterogeneous group of inherited neurodegenerative diseases, with a prevalence of 2/100000 in the Portuguese population. It is mainly characterized by progressive and insidious spasticity of the lower limbs due to degeneration of corticospinal tracts. Case Report: We present a child with progressive spasticity and hyperreflexia of lower limbs, with several relatives of the paternal line with similar symptoms, suggesting the diagnosis of hereditary spastic paraplegia. A causing mutation of hereditary spastic paraplegia type 4 was identified in the proband. Conclusion: In this family, the age of onset varies from five to 50 years, and decreased in average 22,5 years over three generations. The clinical presentation and progression apparently tended to be more severe in successive generations, witch these suggests the phenomenon of anticipation.

Keywords : Strümpell-Lorrain disease; hereditary spastic paraplegia; hereditary spastic paraplegia type 4; spastin; anticipation; phenotypic variability.

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