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

被引：10

作者：

Aleem, Alice Abdel ^{[1
]}

Abu-Shahba, Nourhan ^{[1
]}

Swistun, Dominika ^{[3
]}

Silhavy, Jennifer ^{[3
]}

Bielas, Stephanie L. ^{[3
]}

Sattar, Shifteh ^{[3
]}

Gleeson, Joseph G. ^{[3
]}

Zaki, Maha S. ^{[2
]}

机构：

[1] Natl Res Ctr, Med Mol Genet Dept, Cairo, Egypt

[2] Natl Res Ctr, Dept Clin Genet, Cairo, Egypt

[3] Univ Calif San Diego, Dept Neurosci, Howard Hughes Med Inst, San Diego, CA 92103 USA

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2011年 / 54卷 / 01期

关键词：

Hereditary spastic paraparesis; Thin corpus callosum; SPG11; Spatacsin; Linkage analysis; Autosomal recessive; KJELLIN-SYNDROME; SPATACSIN; PHENOTYPE; HETEROGENEITY; DEGENERATION; FREQUENT;

D O I：

10.1016/j.ejmg.2010.10.006

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

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. (C) 2010 Elsevier Masson SAS. All rights reserved.

引用

页码：82 / 85

页数：4

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