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

Research output: Contribution to journalArticlepeer-review

Abstract

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
Volume113
DOIs
Publication statusPublished - 2013

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Fingerprint Dive into the research topics of 'Hereditary spastic paraplegias: One disease for many genes, and still counting'. Together they form a unique fingerprint.

Cite this