Comparative Study
doi: 10.1007/s00415-005-0768-1.
Epub 2005 Mar 8.
The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy
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- PMID: 15742100
- DOI: 10.1007/s00415-005-0768-1
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Comparative Study
The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy
J Neurol.
2005 Aug.
Abstract
Mutations in the SPG3A gene cause a form of pure, early-onset autosomal dominant hereditary spastic paraplegia linked to chromosome 14q. The encoded protein, atlastin, is a putative member of the dynamin superfamily of large GTPases involved in cellular trafficking patterns. We report a new atlastin mutation causing spastic paraplegia in association with axonal neuropathy in an Italian family.
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