Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

S Salinas, C Proukakis, A Crosby… - The Lancet Neurology, 2008 - thelancet.com
S Salinas, C Proukakis, A Crosby, TT Warner
The Lancet Neurology, 2008thelancet.com
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 …
Summary
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.
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