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Beginning to Understand Hereditary Spastic Paraplegia Atlastin
Arch Neurol. 2004;61:1842-1843.
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Hereditary spastic paraplegias (HSP) represent a genetically diverse set of disorders that share a common phenotype of upper motor neuron–type spasticity and weakness affecting the lower extremities. Hereditary spastic paraplegias can be categorized as noncomplicated (pure) or complicated depending on whether additional neurologic signs, such as amyotrophy, ataxia, optic atrophy, or mental retardation, are present. Certain forms of complicated HSP may also manifest systemic abnormalities, including cataracts, gastroesophageal reflux, or gastrointestinal dysfunction. There are several excellent reviews of HSP, including 1 recently published in this journal, that describe the various clinical phenotypes, gene localizations, and possible pathophysiologic mechanisms underlying HSP.1-2 However, indicative of the rapid advances in this field, new genes causative of HSP continue to be recognized at an accelerated pace. The Table lists the known gene loci for HSP, including the BSCL2 gene recently identified as causative of SPG17.3
Table appears in full text version.
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Table. Genetic Loci for HSP
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In this issue of . . . [Full Text of this Article] AUTHOR INFORMATION
Jeffrey L. Elliott, MD
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