Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia

D. S. Mccorquodale, U. Ozomaro, J. Huang, G. Montenegro, A. Kushman, L. Citrigno, J. Price, F. Speziani, Margaret A Pericak-Vance, Stephan L Zuchner

Research output: Contribution to journalArticle

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Abstract

Hereditary spastic paraplegia (HSP) comprises a group of clinically and genetically heterogeneous diseases that affect the upper motor neurons and their axonal projections. Over 40 chromosomal loci have been identified for autosomal dominant, recessive, and X-linked HSP. Mutations in the genes atlastin, spastin and REEP1 are estimated to account for up to 50% of autosomal-dominant HSP and currently guide the molecular diagnosis of HSP. Here, we report the mutation screening results of 120 HSP patients from North America for spastin, atlastin, and REEP1, with the latter one partially reported previously. We identified mutations in 36.7% of all tested HSP patients and describe 20 novel changes in spastin and atlastin. Our results add to a growing number of HSP disease-associated variants and confirm the high prevalence of atlastin, spastin, and REEP1 mutations in the HSP patient population.

Original languageEnglish
Pages (from-to)523-530
Number of pages8
JournalClinical Genetics
Volume79
Issue number6
DOIs
StatePublished - Jun 1 2011

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Hereditary Spastic Paraplegia
Mutation
Motor Neuron Disease
North America

Keywords

  • ATL1
  • Hereditary spastic paraplegia
  • REEP1
  • SPAST

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Mccorquodale, D. S., Ozomaro, U., Huang, J., Montenegro, G., Kushman, A., Citrigno, L., ... Zuchner, S. L. (2011). Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. Clinical Genetics, 79(6), 523-530. https://doi.org/10.1111/j.1399-0004.2010.01501.x

Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. / Mccorquodale, D. S.; Ozomaro, U.; Huang, J.; Montenegro, G.; Kushman, A.; Citrigno, L.; Price, J.; Speziani, F.; Pericak-Vance, Margaret A; Zuchner, Stephan L.

In: Clinical Genetics, Vol. 79, No. 6, 01.06.2011, p. 523-530.

Research output: Contribution to journalArticle

Mccorquodale, DS, Ozomaro, U, Huang, J, Montenegro, G, Kushman, A, Citrigno, L, Price, J, Speziani, F, Pericak-Vance, MA & Zuchner, SL 2011, 'Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia', Clinical Genetics, vol. 79, no. 6, pp. 523-530. https://doi.org/10.1111/j.1399-0004.2010.01501.x
Mccorquodale DS, Ozomaro U, Huang J, Montenegro G, Kushman A, Citrigno L et al. Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. Clinical Genetics. 2011 Jun 1;79(6):523-530. https://doi.org/10.1111/j.1399-0004.2010.01501.x
Mccorquodale, D. S. ; Ozomaro, U. ; Huang, J. ; Montenegro, G. ; Kushman, A. ; Citrigno, L. ; Price, J. ; Speziani, F. ; Pericak-Vance, Margaret A ; Zuchner, Stephan L. / Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. In: Clinical Genetics. 2011 ; Vol. 79, No. 6. pp. 523-530.
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