Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum

Alice Kamal Abd El Aleem, Nourhan Abu-Shahba, Dominika Swistun, Jennifer Silhavy, Stephanie L. Bielas, Shifteh Sattar, Joseph G. Gleeson, Maha S. Zaki

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

Hereditary spastic paraplegia (HSP) represents a large group of neurological disorders characterized by progressive spasticity of the lower limbs. One subtype of HSP shows an autosomal recessive form of inheritance with thin corpus callosum (ARHSP-TCC), and displays genetic heterogeneity with four known loci. We identified a consanguineous Egyptian family with five affected individuals with ARHSP-TCC. We found linkage to the SPG11 locus and identified a novel homozygous p.Q498X stop codon mutation in exon 7 in the SPG11 gene encoding Spatacsin. Cognitive impairment and polyneuropathy, reported as frequent in SPG11, were not evident. This family supports the importance of SPG11 as a frequent cause for ARHSP-TCC, and expands the clinical SPG11 spectrum.

Original languageEnglish
Pages (from-to)82-85
Number of pages4
JournalEuropean Journal of Medical Genetics
Volume54
Issue number1
DOIs
Publication statusPublished - Jan 2011
Externally publishedYes

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Keywords

  • Autosomal recessive
  • Hereditary spastic paraparesis
  • Linkage analysis
  • Spatacsin
  • SPG11
  • Thin corpus callosum

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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