Journal of Neurology

, 254:972 | Cite as

A novel mutation in the SPG3A gene (atlastin) in hereditary spastic paraplegia

  • M. Matsui
  • T. Kawarai
  • Y. Hase
  • H. Tomimoto
  • K. Iseki
  • E. Rogaeva
  • A. Orlacchio
  • G. Bernardi
  • P. St. George-Hyslop
  • R.  Takahashi
  • M. Matsui
LETTER TO THE EDITORS

References

  1. 1.
    Zhao X, Alvarado D, Rainier S, Lemons R, Hedera P, Weber CH, Tukel T, Apak M, Heiman-Patterson T, Ming L, Bui M, Fink JK (2001) Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. Nat Genet 29:326–331CrossRefPubMedGoogle Scholar
  2. 2.
    Orlacchio A, Kawarai T, Rogaeva E, Song YQ, Paterson AD, Bernardi G, St. George-Hyslop PH (2002) Clinical and genetic study of a large Italian family linked to SPG12 locus. Neurology 59:1395–1401CrossRefPubMedGoogle Scholar
  3. 3.
    Orlacchio A, Kawarai T, Totaro A, Errico A, St George-Hyslop PH, Rugarli EI, Bernardi G (2004) Hereditary spastic paraplegia: clinical genetic study of 15 families. Arch Neurol 61:849–855CrossRefPubMedGoogle Scholar
  4. 4.
    Rogaeva E, Bergeron C, Sato C, Moliaka I, Kawarai T, Toulina A, Song Y-Q, Kolesnikova T, Orlacchio A, Bernardi G, St. George-Hyslop PH (2003) PS1 Alz- heimer’s disease family with spastic paraplegia: the search for a gene modifier. Neurology 61:1005–1007PubMedGoogle Scholar
  5. 5.
    Zhu PP, Patterson A, Lavoie B, Stadler J, Shoeb M, Patel R, Blackstone C (2003) Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin. J Biol Chem 278:49063–49071CrossRefPubMedGoogle Scholar
  6. 6.
    Dürr A, Camuzat A, Colin E, Tallaksen C, Hannequin D, Coutinho P, Fontaine B, Rossi A, Gil R, Rousselle C, Ruberg M, Stevanin G, Brice A (2004) Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. Arch Neurol 61:1867–1872CrossRefPubMedGoogle Scholar
  7. 7.
    Abel A, Fonknechten N, Hofer A, Du¨rr A, Cruaud C, Voit T, Weissenbach J, Brice A, Klimpe S, Auburger G, Hazan J (2004) Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A. Neurogenetics 5:239–243CrossRefPubMedGoogle Scholar
  8. 8.
    Scarano V, Mancini P, Criscuolo C, De Michele G, Rinaldi C, Tucci T, Tessa A, Santorelli FM, Perretti A, Santoro L, Filla A (2005) The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy. J Neurol 252:901–903CrossRefPubMedGoogle Scholar
  9. 9.
    Sanderson CM, Connell JW, Edwards TL, Bright NA, Duley S, Thompson A, Luzio JP, Reid E (2006) Spastin and atlastin, two proteins mutated in autosomal- dominant hereditary spastic paraplegia, are binding partners. Hum Mol Genet 15:307–318CrossRefPubMedGoogle Scholar

Copyright information

© Steinkopff-Verlag 2007

Authors and Affiliations

  • M. Matsui
    • 1
    • 8
  • T. Kawarai
    • 3
  • Y. Hase
    • 1
  • H. Tomimoto
    • 1
  • K. Iseki
    • 2
  • E. Rogaeva
    • 3
    • 4
  • A. Orlacchio
    • 6
    • 7
  • G. Bernardi
    • 6
    • 7
  • P. St. George-Hyslop
    • 3
    • 5
  • R.  Takahashi
    • 1
  • M. Matsui
    • 8
  1. 1.Dept. of NeurologyKyoto University Graduate School of MedicineKyotoJapan
  2. 2.Dept. of NeurologyShizuoka General HospitalShizuokaJapan
  3. 3.Centre for Research in Neurodegenerative DiseasesDept. of Medicine University of TorontoTorontoCanada
  4. 4.Dept. of Medicine Division of NeurologyUniversity of TorontoTorontoCanada
  5. 5.Dept. of Medicine Division of NeurologyUniversity Health NetworkTorontoCanada
  6. 6.Laboratorio di Neurogenetica Centro Europeo di Ricerca sul Cervello (CERC) Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Santa LuciaRomeItaly
  7. 7.Dipartimento di NeuroscienzeUniversità di Roma "Tor Vergata" Policlinico "Tor Vergata" (Neurologia)RomeItaly
  8. 8.Dept. of NeurologyKanazawa Medical UniversityIshikawaJapan

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