Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms.
Hereditary spastic paraplegia (HSP) describes a heterogeneous group of genetic neurodegenerative disorders in which the most severely affected neurons are those of the spinal cord. These disorders are characterised clinically by progressive spasticity and weakness of the lower limbs, and pathologically by retrograde axonal degeneration of the corticospinal tracts and posterior columns. In recent years, genetic studies have identified key cellular functions that are vital for the maintenance of axonal homoeostasis in HSP. Here, we describe the clinical and diagnostic features of the various forms of HSP. We also discuss the genes that have been identified and the emerging pathogenic mechanisms.
Salinas
Sara
S
Neuropathobiology Laboratory, Cancer Research UK, London, UK.
Proukakis
Christos
C
Crosby
Andrew
A
Warner
Thomas T
TT
D001369:Axons / Q000378:metabolism / Q000473:pathology; D002490:Central Nervous System / Q000473:pathology / Q000503:physiopathology*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D009154:Mutation / Q000235:genetics; D009410:Nerve Degeneration / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D009419:Nerve Tissue Proteins / Q000235:genetics; D009434:Neural Pathways / Q000473:pathology / Q000503:physiopathology; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*
D009419:Nerve Tissue Proteins