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Nathalie Doerflinger Catherine Linder Karim Ouahchi Gabor Gyapay Jean Weissenbach Denis Le Paslier Philippe Rigault Samir Belal Christiane Ben Hamida Faycal Hentati Mongi Ben Hamida Massimo Pandolfo Stephano DiDonato Ronald Sokol Herbert Kayden Pierre Landrieu Alexandra Durr Alexis Brice Fran?oise Goutières Alfried Kohlschütter Pascal Sabouraud Ali Benomar Mohamed Yahyaoui Jean-Louis Mandel Michel Koenig 《American journal of human genetics》1995,56(5):1116-1124
Ataxia with vitamin E deficiency (AVED) is an autosomal recessive disease characterized clinically by neurological symptoms with often striking resemblance to those of Friedreich ataxia. This disorder has been reported previously as familial isolated vitamin E deficiency. We have mapped recently the AVED locus to a 5-cM confidence interval on chromosome 8q by homozygosity mapping in six Mediterranean families. We have now analyzed six new and two previously described families and demonstrate genetic homogeneity despite important clinical variability and wide geographic origins. Analysis of nine new tightly linked microsatellite markers, including four characterized in this study, revealed a predominant but not unique mutation in northern African populations, where this condition is more frequent. Haplotype analysis but also classical recombinations allowed us to refine the AVED position to a 1-cM interval. A YAC contig over this interval was constructed from marker STSs and YAC fingerprint data, in order to facilitate the search of the AVED gene. 相似文献
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Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. 总被引:13,自引:0,他引:13
L Cavalier K Ouahchi H J Kayden S Di Donato L Reutenauer J L Mandel M Koenig 《American journal of human genetics》1998,62(2):301-310
Ataxia with vitamin E deficiency (AVED), or familial isolated vitamin E deficiency, is a rare autosomal recessive neurodegenerative disease characterized clinically by symptoms with often striking resemblance to those of Friedreich ataxia. We recently have demonstrated that AVED is caused by mutations in the gene for alpha-tocopherol transfer protein (alpha-TTP). We now have identified a total of 13 mutations in 27 families. Four mutations were found in >=2 independent families: 744delA, which is the major mutation in North Africa, and 513insTT, 486delT, and R134X, in families of European origin. Compilation of the clinical records of 43 patients with documented mutation in the alpha-TTP gene revealed differences from Friedreich ataxia: cardiomyopathy was found in only 19% of cases, whereas head titubation was found in 28% of cases and dystonia in an additional 13%. This study represents the largest group of patients and mutations reported for this often misdiagnosed disease and points to the need for an early differential diagnosis with Friedreich ataxia, in order to initiate therapeutic and prophylactic vitamin E supplementation before irreversible damage develops. 相似文献
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Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration 下载免费PDF全文
Tsaousidou MK Ouahchi K Warner TT Yang Y Simpson MA Laing NG Wilkinson PA Madrid RE Patel H Hentati F Patton MA Hentati A Lamont PJ Siddique T Crosby AH 《American journal of human genetics》2008,82(2):510-515
The hereditary spastic paraplegias (HSPs) are a genetically and clinically heterogeneous group of upper-motor-neuron degenerative diseases characterized by selective axonal loss in the corticospinal tracts and dorsal columns. Although numerous mechanisms involving defective subcellular transportation, mitochondrial malfunction, and increased oxidative stress have been proposed, the pathogenic basis underlying the neuronal loss is unknown. We have performed linkage analysis to refine the extent of the SPG5 disease locus and conducted sequence analysis of the genes located within this region. This identified sequence alterations in the cytochrome P450-7B1 (CYP7B1) associated with this pure form of HSP. In the liver, CYP7B1 offers an alternative pathway for cholesterol degradation and also provides the primary metabolic route for the modification of dehydroepiandrosterone neurosteroids in the brain. These findings provide the first direct evidence of a pivotal role of altered cholesterol metabolism in the pathogenesis of motor-neuron degenerative disease and identify a potential for therapeutic intervention in this form of HSP. 相似文献
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Abstract Check list of the benthic marine flora of Tunisia. — 393 species, varieties, formae and stadii of algae and seagrasses are listed: 6 Bangiophyceae, 239 Florideophyceae, 1 Xanthophyceae, 82 Phaeophyceae, 20 Chlorophyceae, 45 Bryopsidophyceae and 5 seagrasses. 相似文献
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Jalali A Aldinger KA Chary A McLone DG Bowman RM Le LC Jardine P Newbury-Ecob R Mallick A Jafari N Russell EJ Curran J Nguyen P Ouahchi K Lee C Dobyns WB Millen KJ Pina-Neto JM Kessler JA Bassuk AG 《Human genetics》2008,123(3):237-245
We previously reported a Vietnamese-American family with isolated autosomal dominant occipital cephalocele. Upon further neuroimaging
studies, we have recharacterized this condition as autosomal dominant Dandy-Walker with occipital cephalocele (ADDWOC). A
similar ADDWOC family from Brazil was also recently described. To determine the genetic etiology of ADDWOC, we performed genome-wide
linkage analysis on members of the Vietnamese-American and Brazilian pedigrees. Linkage analysis of the Vietnamese-American
family identified the ADDWOC causative locus on chromosome 2q36.1 with a multipoint parametric LOD score of 3.3, while haplotype
analysis refined the locus to 1.1 Mb. Sequencing of the five known genes in this locus did not identify any protein-altering
mutations. However, a terminal deletion of chromosome 2 in a patient with an isolated case of Dandy-Walker malformation also
encompassed the 2q36.1 chromosomal region. The Brazilian pedigree did not show linkage to this 2q36.1 region. Taken together,
these results demonstrate a locus for ADDWOC on 2q36.1 and also suggest locus heterogeneity for ADDWOC. 相似文献
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