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Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

Salinas, Sara, Proukakis, Christos, Crosby, Andrew, Warner, Thomas T·2008·The Lancet Neurology
DOI 10.1016/s1474-4422(08)70258-8
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Abstract

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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Metadata

Authors
Salinas, S., Proukakis, C., Crosby, A., & Warner, T. T.
Venue
The Lancet Neurology
Publisher
Elsevier BV
Published
2008-12
Volume
7
Issue
12
Pages
1127-1138
ISSN
1474-4422
DOI
10.1016/s1474-4422(08)70258-8
Cited by
474
References
4
Language
en
Licence
www.elsevier.com/tdm/userlicense/1.0/ (tdm)

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