Diagnostic Criteria for Multiple Sclerosis Research Involving Multiply Affected Families

Goodkin, Donald E.; Doolittle, Teresa H.; Hauser, Stephen; Ransohoff, Richard M.; Roses, Allen D.; Rudick, Richard A.

doi:10.1001/archneur.1991.00530200041016

Cited by 55 publications

(23 citation statements)

References 25 publications

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“…A total of 439 case-parent MS families, all comprising one affected child with definite MS 27,28 and his two parents, were recruited throughout France by the French Multiple Sclerosis Genetic Group as previously described. 29,30 Informed written consent was obtained from each individual participating in the study in accordance with the Helsinki Convention and the French law relating to biomedical research.…”

mentioning

confidence: 99%

Intercellular adhesion molecule-1: a protective haplotype against multiple sclerosis

et al. 2003

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Intercellular adhesion molecule-1 (ICAM-1) and its receptors are adhesion molecules that play a key role in the transmigration of inflammatory cells through the blood-brain barrier, one of the earliest events in multiple sclerosis (MS), which leads to demyelination in the central nervous system. To investigate the role of genes encoding ICAM-1 and its receptors, we used a strategy of genetic linkage and association in 439 case-parent MS families of French origin, well characterized according to HLA status and severity. We demonstrate that the genes encoding ICAM-1 receptors do not influence MS susceptibility or severity. ICAM-1 had a modest, but significant effect on MS genetic susceptibility, independent of HLA and disease severity. We observed a rare, and an as yet unreported, ICAM-1 gene haplotype defined by amino acids K469 and R241 that was never transmitted to patients suggesting a protective effect against MS in our population.

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confidence: 99%

Intercellular adhesion molecule-1: a protective haplotype against multiple sclerosis

et al. 2003

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“…Diagnostic criteria and ascertainment protocols have been summarized elsewhere. [48][49][50] Positive family histories were investigated by direct contact with other family members, requests for medical records, and by clinical examination, laboratory testing or paraclinical studies (MRI scanning and evoked-response testing). All affected family members were examined or had their medical records reviewed by one of the authors (SLH).…”

Section: Study Population and Measure Of Ms Severitymentioning

confidence: 99%

Allelic association of sequence variants in the herpes virus entry mediator-B gene (PVRL2) with the severity of multiple sclerosis

et al. 2006

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Discrepant findings have been reported regarding an association of the apolipoprotein E (APOE) gene with the clinical course of multiple sclerosis (MS). To resolve these discrepancies, we examined common sequence variation in six candidate genes residing in a 380-kb genomic region surrounding and including the APOE locus for an association with MS severity. We genotyped at least three polymorphisms in each of six candidate genes in 1540 Caucasian MS families (729 single-case and multiple-case families from the United States, 811 single-case families from the UK). By applying the quantitative transmission/ disequilibrium test to a recently proposed MS severity score, the only statistically significant (P ¼ 0.003) association with MS severity was found for an intronic variant in the Herpes Virus Entry Mediator-B Gene (PVRL2). Additional genotyping extended the association to a 16.6 kb block spanning intron 1 to intron 2 of the gene. Sequencing of PVRL2 failed to identify variants with an obvious functional role. In conclusion, the analysis of a very large data set suggests that genetic polymorphisms in PVRL2 may influence MS severity and supports the possibility that viral factors may contribute to the clinical course of MS, consistent with previous reports.

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“…The length variability of this repeat was then ascertained in 196 MS nuclear families (153 simplex and 43 multiplex). The 153 patients belonging to the simplex families fulfilled the criteria for definite MS according to Poser et al 38 and the 89 patients from multiplex families the Goodkin et al 39 criteria for research protocols in familial MS. Of the 242 patients, 239 were genotyped by PCR oligotyping 40 for the HLA marker DRB1.…”

Section: Dna Samplesmentioning

confidence: 99%

No evidence for transmission disequilibrium between a new marker at the myelin basic protein locus and multiple sclerosis in French patients

Coppin¹,

Mt²,

Bausero³

et al. 2000

Genes Immun

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Diagnostic Criteria for Multiple Sclerosis Research Involving Multiply Affected Families

Cited by 55 publications

References 25 publications

Intercellular adhesion molecule-1: a protective haplotype against multiple sclerosis

Intercellular adhesion molecule-1: a protective haplotype against multiple sclerosis

Allelic association of sequence variants in the herpes virus entry mediator-B gene (PVRL2) with the severity of multiple sclerosis

No evidence for transmission disequilibrium between a new marker at the myelin basic protein locus and multiple sclerosis in French patients

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