Journal of the Neurological Sciences
Volume 201, Issue 1 , Pages 65-69 , 15 September 2002

Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia

  • Christos Proukakis

      Affiliations

    • Department of Clinical Neurosciences, Royal Free and University College Medical School, Rowland Hill Street, London NW3 2PF, UK
    • Department of Medical Genetics, St George's Hospital Medical School, Cranmer Terrace, London SW17 0RE, UK
    • ,
  • Paul E Hart

      Affiliations

    • Department of Clinical Neurosciences, Royal Free and University College Medical School, Rowland Hill Street, London NW3 2PF, UK
    • ,
  • Amy Cornish

      Affiliations

    • Department of Medical Genetics, St George's Hospital Medical School, Cranmer Terrace, London SW17 0RE, UK
    • ,
  • Thomas T Warner

      Affiliations

    • Department of Clinical Neurosciences, Royal Free and University College Medical School, Rowland Hill Street, London NW3 2PF, UK
    • ,
  • Andrew H Crosby

      Affiliations

    • Corresponding Author InformationCorresponding author. Tel.: +44-20-87250229; fax: +44-20-87251039
    • Department of Medical Genetics, St George's Hospital Medical School, Cranmer Terrace, London SW17 0RE, UK

Received 19 February 2002 ,Revised 3 June 2002 ,Accepted 4 June 2002.

References 

  1. McDermott CJ, White K, Bushby K, Shaw PJ. Hereditary spastic paraparesis: a review of new developments. J. Neurol. Neurosurg. Psychiatry. 2000;69:150–160
  2. Tallaksen CM, Durr A, Brice A. Recent advances in hereditary spastic paraplegia. Curr. Opin. Neurol. 2000;14:457–463
  3. Patel H, Hart PE, Warner TT, Houlston RS, Patton MA, Jeffery S, et al.  The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12–q14, with evidence for genetic heterogeneity within this subtype. Am. J. Hum. Genet. 2001;69:209–215
  4. Hazan J, Fonknechten N, Mavel D, Paternotte C, Samson D, Artiguenave F, et al.  Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat. Genet. 1999;23:296–303
  5. Bannai H, Tamada Y, Maruyama O, Nakai K, Miyano S. Views: fundamental building blocks in the process of knowledge discovery. In: Proceedings of the 14th International FLAIRS Conference. Menlo Parl California, USA: AAAI Press; 2001;p. 233–238 Website: http://hypothesiscreator.net/iPSORT
  6. Errico A, Ballabio A, Rugarli EI. Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. Hum. Mol. Genet. 2002;11:153–163
  7. Heinzlef O, Paternotte C, Mahieux F, Prud'homme JF, Dien J, Madigand M, et al.  Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p. J. Med. Genet. 1998;35:89–93
  8. Mead SH, Proukakis C, Wood NW, Crosby AH, Plant GT, Warner TT. A large family with hereditary spastic paraparesis due to a frameshift mutation of the spastin (SPG4) gene: association with multiple sclerosis in two affected siblings and epilepsy in other affected family members. J. Neurol. Neurosurg. Psychiatry. 2001;71:788–791
  9. Svenson IK, Ashley-Koch AE, Gaskell PC, Riney TJ, Cumming WJ, Kingston HM, et al.  Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. Am. J. Hum. Genet. 2001;68:1077–1085
  10. Burger J, Fonknechten N, Hoeltzenbein M, Neumann L, Bratanoff E, Hazan J, et al.  Hereditary spastic paraplegia caused by mutations in the SPG4 gene. Eur. J. Hum. Genet. 2000;8:771–776
  11. Fonknechten N, Mavel D, Byrne P, Davoine C-S, Cruaud C, Boentsch D, et al.  Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum. Mol. Genet. 2000;9:637–644
  12. Lindsey JC, Lusher ME, McDermott CJ, White KD, Reid E, Rubinsztein DC, et al.  Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis. J. Med. Genet. 2000;37:759–765
  13. Pegoraro E, Molon AM, Fassina A, Magalhaes P, Angelini C. Two spastin isoforms are developmentally regulated in fetal and adult human brain. Am. J. Hum. Genet. 2001;69(S):601
  14. Harding AE. Hereditary “pure” spastic paraplegia: a clinical and genetic study of 22 families. J. Neurol. Neurosurg. Psych. 1981;44:871–883
  15. Nielsen JE, Krabbe K, Jennum P, Koefoed P, Neerup Jensen L, Fenger K, et al.  Autosomal dominant pure spastic paraplegia: a clinical, paraclinical and genetic study. J. Neurol. Neurosurg. Psychiatry. 1998;64:61–66

PII: S0022-510X(02)00192-2

Journal of the Neurological Sciences
Volume 201, Issue 1 , Pages 65-69 , 15 September 2002

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