Hereditary spastic paraplegias: One disease for many genes, and still counting

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Hereditary spastic paraplegias (HSPs) are genetically heterogeneous Mendelian disorders characterized by spastic gait with stiffness and weakness in the legs and an associated plethora of neurological or extraneurological signs in " complicated" forms. Major advances have been made during the past two decades in our understanding of their molecular bases with the identification of a large number of gene loci and the cloning of a set of them. The combined genetic and clinical information obtained has permitted a new, molecularly-driven classification and an improved diagnosis of these conditions. This represents a prerequisite for better counseling in families and more appropriate therapeutic options. However, further heterogeneity is expected and new insight into the possible mechanisms anticipated.

Original languageEnglish
Pages (from-to)1899-1912
Number of pages14
JournalHandbook of Clinical Neurology
Publication statusPublished - 2013

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology


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