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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy
Neurology, Volume 66, No. 8, Year 2006
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Description
Background: Hereditary spastic paraplegia (HSP) are classified clinically as pure when progressive spasticity occurs in isolation or complicated when other neurologic abnormalities are present. At least 22 genetic loci have been linked to HSP, 8 of which are autosomal recessive (ARHSP). HSP complicated with the presence of thin corpus callosum (HSP-TCC) is a common subtype of HSP. One genetic locus has been identified on chromosome 15q13-q15 (SPG11) for HSP-TCC, but some HSP-TCC families have not been linked to this locus. Methods: The authors characterized two families clinically and radiologically and performed a genome-wide scan and linkage analysis. Results: The two families had complicated ARHSP. The affected individuals in Family A had thin corpus callosum and mental retardation, whereas in Family B two of three affected individuals had epilepsy. In both families linkage analysis identified a locus on chromosome 8 between markers D8S1820 and D8S532 with the highest combined lod score of 7.077 at marker D8S505. This 9 cM interval located on 8p12-p11.21 represents a new locus for ARHSP-TCC. Neuregulin and KIF13B genes, located within this interval, are interesting functional candidate genes for this HSP form. Conclusion: Two consanguineous families with complicated autosomal recessive hereditary spastic paraplegia were clinically characterized and genetically mapped to a new locus on 8p12-p11.21. Copyright © 2006 by AAN Enterprises, Inc.
Authors & Co-Authors
Al-Yahyaee, Said Ali S.
Oman, Muscat
Sultan Qaboos University
Al-Gazali, Lihadh I.
United Arab Emirates, Al Ain
United Arab Emirates University
de Jonghe, Peter
Belgium, Ghent
Vlaams Instituut Voor Biotechnologie
Al-Barwany, Hameeda S.
Oman, Muscat
Sultan Qaboos University
Al-Kindi, Mohammed Nasser
Oman, Muscat
Sultan Qaboos University
De Vriendt, E.
Belgium, Ghent
Vlaams Instituut Voor Biotechnologie
Chand, P.
Oman, Muscat
Sultan Qaboos University
Koul, Roshan Lal
Oman, Muscat
Sultan Qaboos University
Jacob, P. C.
Oman, Muscat
Sultan Qaboos University
Gururaj, Aithala K.
United Arab Emirates, Al Ain
United Arab Emirates University
Sztriha, László
United Arab Emirates, Al Ain
United Arab Emirates University
Parrado, Antonio R.
United States, New York
Rockefeller University
van Broeckhoven, Christine L.
Belgium, Ghent
Vlaams Instituut Voor Biotechnologie
Bayoumi, Riad A.L.
Oman, Muscat
Sultan Qaboos University
Statistics
Citations: 46
Authors: 14
Affiliations: 4
Identifiers
Doi:
10.1212/01.wnl.0000208501.52849.dd
ISSN:
00283878
Research Areas
Genetics And Genomics