Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia
Neurology, Volume 66, No. 5, Year 2006
Notification
URL copied to clipboard!
Description
Background: Mutations in the SPG7 gene, which encodes paraplegin, are responsible for an autosomal recessive hereditary spastic paraplegia (HSP). Objective: To screen the SPG7 gene in a large population of HSP families compatible with autosomal recessive transmission. Methods: The authors analyzed 136 probands with pure or complex HSP for mutations in the SPG7 using denaturation high-performance liquid chromatography and direct sequencing. Results: The authors identified 47 variants including 6 mutations, 27 polymorphisms, and 14 changes with unknown effects. In one family from Morocco, compound c.850_851delTTinsC and c.1742_1744delTGG heterozygous mutations were shown to be causative. This family had complex HSP with cerebellar impairment. Progression of the disease was rapid, resulting in a severe disease after 8 years of duration. Also detected were 20 families with one heterozygous mutation that was not found in a large control population. The mutations produced highly defective proteins in four of these families, suggesting that they were probably causative. Direct sequencing of all exons and reverse transcription PCR experiments demonstrated the absence of a second mutation. However, the p.Ala510Val missense substitution previously described as a polymorphism was shown to be significantly associated with HSP, suggesting that it had a functional effect. Conclusion: SPG7 mutations account for less than 5% of hereditary spastic paraplegia (HSP) families compatible with autosomal recessive inheritance. Cerebellar signs or cerebellar atrophy on brain imaging were the most frequent additional features in patients with SPG7 HSP. Rare nucleotide variants in SPG7 are frequent, complicating routine diagnosis. Copyright © 2006 by AAN Enterprises, Inc.
Authors & Co-Authors
Elleuch, Nizar
France, Paris
Inserm
Depienne, Christel
France, Paris
Inserm
Benomar, Ali
Morocco, Agdal Rabat
Ibn Sina Hospital, Agdal Rabat
Hernandez, A. M.Ouvrard
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
Ferrer, X.
France, Talence
Centre Hospitalier Universitaire de Bordeaux
Fontaine, Bertrand
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Grid, Djamel
France, Evry
Généthon
Tallaksen, Chantal Me E.
France, Paris
Inserm
Zemmouri, Rabea
Algeria, Algiers
Centre Hospitalo-universitaire de Mustapha Bacha
Stévanin, Giovanni
France, Paris
Inserm
Dürr, Alexandra
France, Paris
Inserm
Brice, Alexis
France, Paris
Inserm
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Statistics
Citations: 102
Authors: 12
Affiliations: 7
Identifiers
Doi:
10.1212/01.wnl.0000201185.91110.15
ISSN:
00283878
Research Areas
Cancer
Genetics And Genomics
Study Design
Cross Sectional Study
Study Locations
Morocco