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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Scarano, V., Mancini, P., Criscuolo, C. et al. The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy. J Neurol 252, 901–903 (2005). https://doi.org/10.1007/s00415-005-0768-1
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DOI: https://doi.org/10.1007/s00415-005-0768-1