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PMID: 12566514 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Review

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

Journal of medical genetics ·Vol. 40 ·No. 2 ·2003-02-00 ·Pages 81-6

Reid E

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.

MeSH Terms
ATPases Associated with Diverse Cellular Activities Adenosine Triphosphatases/genetics Chaperonin 60/genetics Metalloendopeptidases/genetics Myelin Proteolipid Protein/genetics Neural Cell Adhesion Molecule L1/genetics Phenotype Spastic Paraplegia, Hereditary/genetics,pathology Spastin
Chemicals
Chaperonin 60 Myelin Proteolipid Protein Neural Cell Adhesion Molecule L1 Metalloendopeptidases SPG7 protein, human Adenosine Triphosphatases ATPases Associated with Diverse Cellular Activities Spastin SPAST protein, human
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
Reid E
Department of Medical Genetics, University of Cambridge, Box 134, Addenbrooke's Hospital, Cambridge, UK. ereid@hgmp.mrc.ac.uk
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Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
1468-6244
DOI
10.1136/jmg.40.2.81
Email
ereid@hgmp.mrc.ac.uk
Published
2003-02-00
Pages
81-6
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1735361
Subset
IM
External Links
PubMed source DOI: 10.1136/jmg.40.2.81 PMC Full Text View journal details
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