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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.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Abdel Aleem A,Abu-Shahba N,Swistun D,Silhavy J,Bielas SL,Sattar S,Gleeson JG,Zaki MS

doi

10.1016/j.ejmg.2010.10.006

subject

Has Abstract

pub_date

2011-01-01 00:00:00

pages

82-5

issue

1

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(10)00119-9

journal_volume

54

pub_type

杂志文章

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