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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families
Neurogenetics, Volume 8, No. 4, Year 2007
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Description
Hereditary spastic paraplegia (HSP) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly progressive spastic paraplegia, mental retardation, intellectual deterioration, maculopathy, distal amyotrophy, and mild cerebellar signs that has been associated with the Kjellin syndrome. The locus for this form of HSP, designated SPG15, was mapped to an interval of 19 cM on chromosome 14q22-q24 in two Irish families. We performed a clinical-genetic study of this form of HSP on 147 individuals (64 of whom were affected) from 20 families with AR-HSP. A genome-wide scan was performed in three large consanguineous families of Arab origin after exclusion of linkage to several known loci for AR-HSP (SPG5, SPG7, SPG21, SPG24, SPG28, and SPG30). The 17 other AR-HSP families were tested for linkage to the SPG15 locus. Only the three large consanguineous families showed evidence of linkage to the SPG15 locus (2.4>Zmax>4.3). Recombinations in these families reduced the candidate region from ∼16 to ∼5 Mbases. Among the ~50 genes assigned to this locus, two were good candidates by their functions (GPHN and SLC8A3), but their coding exons and untranslated regions (UTRs) were excluded by direct sequencing. Patients had spastic paraplegia associated with cognitive impairment, mild cerebellar signs, and axonal neuropathy, as well as a thin corpus callosum in one family. The ages at onset ranged from 10 to 19 years. Our study highlights the phenotypic heterogeneity of SPG15 in which mental retardation or cognitive deterioration, but not all other signs of Kjellin syndrome, are associated with HSP and significantly reduces the SPG15 locus. © 2007 Springer-Verlag.
Authors & Co-Authors
Elleuch, Nizar
France, Paris
Hôpital Universitaire Pitié Salpêtrière
France, Paris
Sorbonne Université
Tunisia, Sfax
Chu Habib Bourguiba
Bouslam, Naïma
France, Paris
Hôpital Universitaire Pitié Salpêtrière
France, Paris
Sorbonne Université
Morocco, Agdal Rabat
Ibn Sina Hospital, Agdal Rabat
Hanein, Sylvain
France, Paris
Hôpital Universitaire Pitié Salpêtrière
France, Paris
Sorbonne Université
Lossos, Alexander
Israel, Jerusalem
Hadassah University Medical Centre
Hamri, Abdelmadjid
Algeria, Constantine
Centre Hospitalo-universitaire dr Benbadis Constantine
Klebe, Stephan
France, Paris
Hôpital Universitaire Pitié Salpêtrière
France, Paris
Sorbonne Université
Meiner, Vardiella L.
Israel, Jerusalem
Hadassah University Medical Centre
Birouk, Nazha
Morocco, Agdal Rabat
Ibn Sina Hospital, Agdal Rabat
Lerer, Israela
Israel, Jerusalem
Hadassah University Medical Centre
Grid, Djamel
France, Evry
Généthon
Bacq-Daian, Delphine
France, Evry
Centre National de Recherche en Génomique Humaine
Tazir, Mériem
Algeria, Algiers
Centre Hospitalo-universitaire de Mustapha Bacha
Zélénika, Diana
France, Evry
Centre National de Recherche en Génomique Humaine
Argov, Zohar
Israel, Jerusalem
Hadassah University Medical Centre
Dürr, Alexandra
France, Paris
Hôpital Universitaire Pitié Salpêtrière
France, Paris
Sorbonne Université
Yahyaoui, Mohamed
Morocco, Agdal Rabat
Ibn Sina Hospital, Agdal Rabat
Benomar, Ali
Morocco, Agdal Rabat
Ibn Sina Hospital, Agdal Rabat
Brice, Alexis
France, Paris
Hôpital Universitaire Pitié Salpêtrière
France, Paris
Sorbonne Université
Stévanin, Giovanni
France, Paris
Hôpital Universitaire Pitié Salpêtrière
France, Paris
Sorbonne Université
Statistics
Citations: 19
Authors: 19
Affiliations: 9
Identifiers
Doi:
10.1007/s10048-007-0097-x
ISSN:
13646745
Research Areas
Genetics And Genomics