Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias.
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.
Reid
E
E
Department of Medical Genetics, University of Cambridge, Box 134, Addenbrooke's Hospital, Cambridge, UK. ereid@hgmp.mrc.ac.uk
D000074183:ATPases Associated with Diverse Cellular Activities; D000251:Adenosine Triphosphatases / Q000235:genetics; D018834:Chaperonin 60 / Q000235:genetics; D008666:Metalloendopeptidases / Q000235:genetics; D018991:Myelin Proteolipid Protein / Q000235:genetics; D039842:Neural Cell Adhesion Molecule L1 / Q000235:genetics; D010641:Phenotype; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000473:pathology; D000074181:Spastin
D018834:Chaperonin 60; D018991:Myelin Proteolipid Protein; D039842:Neural Cell Adhesion Molecule L1; D008666:Metalloendopeptidases; C112889:SPG7 protein, human; D000251:Adenosine Triphosphatases; D000074183:ATPases Associated with Diverse Cellular Activities; D000074181:Spastin; C400283:SPAST protein, human