The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy (original) (raw)

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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Authors and Affiliations

1. Dipartimento di Scienze Neurologiche, Università degli Studi di Napoli Federico II, Via Pansini 5, 80131, Napoli, Italy
   Valentina Scarano MD, Pietro Mancini MD, Chiara Criscuolo MD, Giuseppe De Michele MD, Carlo Rinaldi MD, Tecla Tucci MD, Anna Perretti MD, Lucio Santoro MD & Alessandro Filla MD
2. Molecular Medicine & Neurology, IRCCS-Bambino Gesù Hospital, Rome, Italy
   Alessandra Tessa MD & Filippo M. Santorelli MD

Authors

1. Valentina Scarano MD
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2. Pietro Mancini MD
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3. Chiara Criscuolo MD
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4. Giuseppe De Michele MD
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5. Carlo Rinaldi MD
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6. Tecla Tucci MD
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7. Alessandra Tessa MD
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8. Filippo M. Santorelli MD
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9. Anna Perretti MD
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10. Lucio Santoro MD
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11. Alessandro Filla MD
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Corresponding author

Correspondence to Alessandro Filla MD.

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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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• Received: 11 March 2004
• Revised: 15 September 2004
• Accepted: 23 September 2004
• Published: 08 March 2005
• Issue Date: August 2005
• DOI: https://doi.org/10.1007/s00415-005-0768-1

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