The role of hereditary spastic paraplegia related genes in multiple sclerosis : A study of disease susceptibility and clinical outcome

Multiple sclerosis (MS) is a common inflammatory disease of the central nervous system unsurpassed for its variability in disease outcome. It has been observed that axonal loss in MS is significant and that irreversible clinical disability relates to such axonal loss. The clinical similarities betwe...

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Bibliographic Details
Published in:Journal of neurology 2007-09, Vol.254 (9), p.1221-1226
Main Authors: DELUCA, G. C, RAMAGOPALAN, S. V, EBERS, G. C, CADER, M. Z, DYMENT, D. A, HERRERA, B. M, ORTON, S, DEGENHARDT, A, PUGLIATTI, M, SADOVNICK, A. D, SOTGIU, S
Format: Article
Language:English
Subjects:
Adenosine Triphosphatases - genetics
Adult
Biological and medical sciences
Cohort Studies
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Disability Evaluation
Disease Progression
Female
Genetic Predisposition to Disease
Genotype
Haplotypes
Humans
Male
Medical sciences
Multiple Sclerosis - diagnosis
Multiple Sclerosis - genetics
Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis
Neurology
Polymorphism, Single Nucleotide
Prognosis
Spastic Paraplegia, Hereditary - genetics
Spastin
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Summary:Multiple sclerosis (MS) is a common inflammatory disease of the central nervous system unsurpassed for its variability in disease outcome. It has been observed that axonal loss in MS is significant and that irreversible clinical disability relates to such axonal loss. The clinical similarities between Hereditary Spastic Paraplegia (HSP) and progressive MS, along with their analogous profiles of axonal loss in the long tracts, make the genes known to cause HSP biologically relevant candidates for the study of clinical outcome in MS. A cohort of sporadic MS cases and a set of unaffected controls were used to determine the role of HSP genes on MS susceptibility and disease severity. The MS cases were taken from opposite extremes of the putative distribution of long-term outcome using the most stringent clinical criteria to date. Genotyping the two sets of MS patients and controls could not provide any evidence to suggest that genes involved in the pathogenesis of HSP (Paraplegin, NIPA1, KIF5A, HSPD1, Atlastin, Spartin, Spastin, PLP1, L1CAM, Maspardin and BSCL2) play a role in susceptibility to, or modifying the course of, MS, although small effects of these genes cannot be ruled out.
ISSN:0340-5354
1432-1459
DOI:10.1007/s00415-006-0505-4