Key result
Familial MS in multiplex families shows less primary progressive disease compared to previously reported cohorts.
Why the study?
Different phenotypes of MS may reflect genetic heterogeneity that could explain inconsistencies in genetic linkage study results, requiring detailed clinical descriptions of affected multiplex family members for proper comparison.
Observational
Different phenotypes of MS in multiplex families may reflect genetic heterogeneity, highlighting the need for detailed clinical descriptions in genetic linkage studies.
May reflect genetic heterogeneity in familial MS; leaves open need for detailed phenotyping in linkage studies.
The demographic and clinical characteristics of 89 multiplex families whose affected members meet proposed diagnostic criteria for multiple sclerosis (MS) genetic research are described and compared with 425 sporadic cases of MS and other published collections of MS multiplex families. The proportion of affected multiplex family members who experienced gradual progression of disability from onset (primary progressive MS) is lower than reported by other investigators. Different phenotypes of MS may reflect genetic heterogeneity that may partially explain inconsistencies in the results of genetic linkage studies. Clinical details of affected multiplex family members must be described so that comparisons of genetic results across studies can be properly interpreted.
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A 1998 study conducted an observational in Multiple sclerosis. Familial multiple sclerosis (multiplex families) vs. Sporadic cases of MS and other published collections was evaluated on Proportion of affected members experiencing gradual progression of disability from onset (primary progressive MS). Familial multiple sclerosis cases in multiplex families showed a lower proportion of primary progressive MS compared to previously reported collections.
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