A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy

S. Al-Yahyaee, L. I. Al-Gazali, P. De Jonghe, H. Al-Barwany, M. Al-Kindi, E. De Vriendt, P. Chand, R. Koul, P. C. Jacob, A. Gururaj, L. Sztriha, A. Parrado, C. Van Broeckhoven, R. A. Bayoumi

Research output: Contribution to journalArticle

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Abstract

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.

Original languageEnglish
Pages (from-to)1230-1234
Number of pages5
JournalNeurology
Volume66
Issue number8
DOIs
Publication statusPublished - Apr 2006

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Hereditary Spastic Paraplegia
Corpus Callosum
Epilepsy
Genetic Loci
Neuregulins
Nervous System Malformations
Lod Score
Chromosomes, Human, Pair 8
Intellectual Disability
Genes
Chromosomes
Genome

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Al-Yahyaee, S., Al-Gazali, L. I., De Jonghe, P., Al-Barwany, H., Al-Kindi, M., De Vriendt, E., ... Bayoumi, R. A. (2006). A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy. Neurology, 66(8), 1230-1234. https://doi.org/10.1212/01.wnl.0000208501.52849.dd

A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy. / Al-Yahyaee, S.; Al-Gazali, L. I.; De Jonghe, P.; Al-Barwany, H.; Al-Kindi, M.; De Vriendt, E.; Chand, P.; Koul, R.; Jacob, P. C.; Gururaj, A.; Sztriha, L.; Parrado, A.; Van Broeckhoven, C.; Bayoumi, R. A.

In: Neurology, Vol. 66, No. 8, 04.2006, p. 1230-1234.

Research output: Contribution to journalArticle

Al-Yahyaee, S, Al-Gazali, LI, De Jonghe, P, Al-Barwany, H, Al-Kindi, M, De Vriendt, E, Chand, P, Koul, R, Jacob, PC, Gururaj, A, Sztriha, L, Parrado, A, Van Broeckhoven, C & Bayoumi, RA 2006, 'A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy', Neurology, vol. 66, no. 8, pp. 1230-1234. https://doi.org/10.1212/01.wnl.0000208501.52849.dd
Al-Yahyaee S, Al-Gazali LI, De Jonghe P, Al-Barwany H, Al-Kindi M, De Vriendt E et al. A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy. Neurology. 2006 Apr;66(8):1230-1234. https://doi.org/10.1212/01.wnl.0000208501.52849.dd
Al-Yahyaee, S. ; Al-Gazali, L. I. ; De Jonghe, P. ; Al-Barwany, H. ; Al-Kindi, M. ; De Vriendt, E. ; Chand, P. ; Koul, R. ; Jacob, P. C. ; Gururaj, A. ; Sztriha, L. ; Parrado, A. ; Van Broeckhoven, C. ; Bayoumi, R. A. / A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy. In: Neurology. 2006 ; Vol. 66, No. 8. pp. 1230-1234.
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abstract = "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.",
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T1 - A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy

AU - Al-Yahyaee, S.

AU - Al-Gazali, L. I.

AU - De Jonghe, P.

AU - Al-Barwany, H.

AU - Al-Kindi, M.

AU - De Vriendt, E.

AU - Chand, P.

AU - Koul, R.

AU - Jacob, P. C.

AU - Gururaj, A.

AU - Sztriha, L.

AU - Parrado, A.

AU - Van Broeckhoven, C.

AU - Bayoumi, R. A.

PY - 2006/4

Y1 - 2006/4

N2 - 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.

AB - 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.

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