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

Fingerprint

Hereditary Spastic Paraplegia
Corpus Callosum
Mutation
Genetic Heterogeneity
Polyneuropathies
Terminator Codon
Nervous System Diseases
Genes
Lower Extremity
Exons

Keywords

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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum. / Kamal Abd El Aleem, Alice; Abu-Shahba, Nourhan; Swistun, Dominika; Silhavy, Jennifer; Bielas, Stephanie L.; Sattar, Shifteh; Gleeson, Joseph G.; Zaki, Maha S.

In: European Journal of Medical Genetics, Vol. 54, No. 1, 01.2011, p. 82-85.

Research output: Contribution to journalArticle

Kamal Abd El Aleem, Alice ; Abu-Shahba, Nourhan ; Swistun, Dominika ; Silhavy, Jennifer ; Bielas, Stephanie L. ; Sattar, Shifteh ; Gleeson, Joseph G. ; Zaki, Maha S. / Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum. In: European Journal of Medical Genetics. 2011 ; Vol. 54, No. 1. pp. 82-85.
@article{74a329b765a5432ab312291089f694e4,
title = "Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum",
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.",
keywords = "Autosomal recessive, Hereditary spastic paraparesis, Linkage analysis, Spatacsin, SPG11, Thin corpus callosum",
author = "{Kamal Abd El Aleem}, Alice and Nourhan Abu-Shahba and Dominika Swistun and Jennifer Silhavy and Bielas, {Stephanie L.} and Shifteh Sattar and Gleeson, {Joseph G.} and Zaki, {Maha S.}",
year = "2011",
month = "1",
doi = "10.1016/j.ejmg.2010.10.006",
language = "English",
volume = "54",
pages = "82--85",
journal = "European Journal of Medical Genetics",
issn = "1769-7212",
publisher = "Elsevier Masson SAS",
number = "1",

}

TY - JOUR

T1 - Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum

AU - Kamal Abd El Aleem, Alice

AU - Abu-Shahba, Nourhan

AU - Swistun, Dominika

AU - Silhavy, Jennifer

AU - Bielas, Stephanie L.

AU - Sattar, Shifteh

AU - Gleeson, Joseph G.

AU - Zaki, Maha S.

PY - 2011/1

Y1 - 2011/1

N2 - 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.

AB - 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.

KW - Autosomal recessive

KW - Hereditary spastic paraparesis

KW - Linkage analysis

KW - Spatacsin

KW - SPG11

KW - Thin corpus callosum

UR - http://www.scopus.com/inward/record.url?scp=79951950273&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=79951950273&partnerID=8YFLogxK

U2 - 10.1016/j.ejmg.2010.10.006

DO - 10.1016/j.ejmg.2010.10.006

M3 - Article

C2 - 20971220

AN - SCOPUS:79951950273

VL - 54

SP - 82

EP - 85

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

SN - 1769-7212

IS - 1

ER -