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J Med Genet. 2003 Feb;40(2):81-6.

Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias.

Author information

1
Department of Medical Genetics, University of Cambridge, Box 134, Addenbrooke's Hospital, Cambridge, UK. ereid@hgmp.mrc.ac.uk

Abstract

The hereditary spastic paraplegias are a group of neurodegenerative conditions that all share the principal clinical feature of progressive lower limb spastic paralysis, caused by either failure of development or progressive degeneration of the corticospinal tract. The conditions are characterised by extreme genetic heterogeneity, with at least 20 genes involved. Until recently, no functional overlap was apparent in the associated molecular pathological mechanisms. However, with recent progress in hereditary spastic paraplegia gene identification, common pathological themes are now emerging.

PMID:
12566514
PMCID:
PMC1735361
DOI:
10.1136/jmg.40.2.81
[Indexed for MEDLINE]
Free PMC Article

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