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Journal of Neurology

, 254:897 | Cite as

A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia

  • J. HansenEmail author
  • K. Svenstrup
  • D. Ang
  • M. N. Nielsen
  • J. H. Christensen
  • N. Gregersen
  • J. E. Nielsen
  • C. Georgopoulos
  • P. Bross
ORIGINAL COMMUNICATION

Abstract

A mutation in the HSPD1 gene has previously been associated with an autosomal dominant form of spastic paraplegia in a French family. HSPD1 encodes heat shock protein 60, a molecular chaperone involved in folding and quality control of mitochondrial proteins. In the present work we have investigated 23 Danish index patients with hereditary spastic paraplegia (HSP) for mutations in the HSPD1 gene. One patient was found to be heterozygous for a c.1381C > G missense mutation encoding the mutant heat shock protein 60 p.Gln461Glu. The mutation was also present in two unaffected brothers, but absent in 400 unrelated Danish individuals. We found that the function of the p.Gln461Glu heat shock protein 60 was mildly compromised. The c.1381C > G mutation likely represents a novel low-penetrance HSP allele.

Key words

gait disorder hereditary spastic paraplegia mitochondrial chaperone motor neuron disease 

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Copyright information

© Steinkopff-Verlag 2007

Authors and Affiliations

  • J. Hansen
    • 1
    Email author
  • K. Svenstrup
    • 2
  • D. Ang
    • 3
  • M. N. Nielsen
    • 1
  • J. H. Christensen
    • 1
  • N. Gregersen
    • 1
  • J. E. Nielsen
    • 2
    • 4
  • C. Georgopoulos
    • 3
  • P. Bross
    • 1
  1. 1.Research Unit for Molecular MedicineFaculty of Health Sciences Aarhus University Hospital Aarhus NDenmark
  2. 2.Dept. of Medical Biochemistry and GeneticsThe Panum Institute University of CopenhagenCopenhagenDenmark
  3. 3.Dépt. de Microbiologie et MédecineMoléculaire Centre Médical Universitaire Université de GenèveGenevaSwitzerland
  4. 4.Dept. of Neurology N 2081Copenhagen University HospitalCopenhagenDenmark

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