Diagnostic criteria for multiple sclerosis research involving multiply affected families
D. E. Goodkin, T. H. Doolittle, S. S. Hauser, R. M. Ransohoff, A. D. Roses and R. A. Rudick
Cleveland Clinic Foundation, Mellen Center for Multiple Sclerosis Treatment and Research, OH 44195.
Existing diagnostic criteria for multiple sclerosis present significant
limitations when assessing multiplex families for three reasons: (1)
restricting age of onset to 10 to 50 years is likely to exclude 10% of
patients known to have a later onset, (2) diagnoses based on subjective
information can potentially result in a false-positive diagnosis, and (3)
including progressive myelopathies occurring within families, particularly
when highly symmetrical, may result in the improper inclusion of
genetically determined neurological diseases such as familial spastic
paraparesis. The validity of any molecular genetic approach for determining
disease susceptibility critically depends on diagnostic accuracy. We
present adapted diagnostic criteria that address each of these diagnostic
pitfalls unique to multiplex multiple sclerosis family research.
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