Ueber infantile und hereditäre multiple Sklerose

Eichhorst, Hermann

doi:10.1007/bf01882681

Cited by 52 publications

(12 citation statements)

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“…There can be no question that MS occurs in children based on the autopsy reports of Eichhors t, 12 Schlesinger,l' 3 Arnouts,&dquo; Nobel,9 and Picard and Richardson.15 The case of Eichhorse2 was most interesting because the boy was born from a mother who also had NIS; the onset was at 8 years of age, and in both mother and son the spinal cord was involved.…”

Section: Discussionmentioning

confidence: 95%

Multiple Sclerosis Beginning in Infancy

Shaw

Alvord

1987

J Child Neurol

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The clinical and autopsy findings on a 6-year-old child presenting with 11 episodes of relapsing neurological symptoms since age 10 months are reported. The brain showed multiple and irregular demyelinative lesions in the cerebral and cerebellar white matter as well as in the tegmentum and base of the brain stem. This case reconfirms the existence of typical multiple sclerosis (MS) in childhood, beginning even in infancy. In addition, elevated Epstein-Barr virus antibody titers during the clinical course of this patient raise an interesting but still speculative etiological possibility for MS.

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Section: Discussionmentioning

confidence: 95%

Multiple Sclerosis Beginning in Infancy

Shaw

Alvord

1987

J Child Neurol

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“…Although MS was initially thought to be a sporadic disease, the familial occurrence of MS was recognized by the late 19th century (Gowers, 1893;Eichorst, 1896). Systematic studies of familial aggregation in MS support a genetic contribution to the disease (Curtius, 1938;McAlpine, 1946;Pratt et al, 1951;Millar and Allison, 1954;Sadovnick et al, 1988;Robertson et al, 1996;Carton et al, 1997).…”

Section: Familial Aggregationmentioning

confidence: 99%

Multiple sclerosis genetics

Cree

2014

Handbook of Clinical Neurology

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“…Environmental influences and genetic factors are implicated in the risk of developing MS. The idea that genetic factors may playa role in MS was first raised in the 1890's with the identification of familial aggregation (2). The data from twin studies indicate a strong familial factor in MS, with a concordance rate for monozygotic twins of about 20% (range 0-40%) (3).…”

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confidence: 99%

CD1A and CD1E Gene Polymorphisms are Associated with Susceptibility to Multiple Sclerosis

Caporale

Notturno

Pace

et al. 2011

Int J Immunopathol Pharmacol

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Multiple sclerosis (MS) is thought to be an autoimmune T-cell-mediated disease directed at myelin antigens of the central nervous system. Besides myelin proteins, lipid components of CNS are supposed to playa role as antigens for T cells in MS. CDI is a family of MHC-like glycoproteins specialized in capturing and presenting a variety of microbial and self lipids and glycolipids to antigen-specific T cells. CD L-restricted T cells specific for gangliosides and sulfatide have been isolated from subjects with MS and in mice with experimental allergic encephalopathy. We genotyped exon 2 of CDIA and CDIE in 205 MS patients and 223 unrelated healthy controls and determined their association with the presence of anti-ganglioside and anti-sulfatide antibodies. CDIE 01-01 is associated with a reduced risk ofMS (OR 0.54, p=O.OOI); CDIA 02-02 (OR 1.99, p=0.012) or CDIE 02-02 (OR 2.45, p=O.OOO) with an increased risk. The combination of the genotypes CDIA 02-02 and CDIE 02-02 is present in 90.7% of patients but in only 9.4% controls (OR 94.16, p= 0.000). CDIA and CDIE polymorphisms contribute to the polygenic susceptibility to MS. The functional effects of CDI polymorphisms are unknown, however changes in CDI alleles may affect numerous immunological functions.Multiple Sclerosis (MS) is a complex demyelinating disorder ofthe central nervous system (1). Environmental influences and genetic factors are implicated in the risk of developing MS. The idea that genetic factors may playa role in MS was first raised in the 1890's with the identification of familial aggregation (2). The data from twin studies indicate a strong familial factor in MS, with a concordance rate for monozygotic twins of about 20% (range 0-40%) (3). More than 20 whole genome studies have been performed employing up to 6,000 microsatellite markers and different methodologies in different MS populations (4). The strongest association was found for one or more susceptibility genes on chromosome 6p21 in the area of the major histocompatibility complex (MHC) (5). More recently, genome-wide association studies have described polymorphisms within genes related to the regulation of the immune response not MHC-dependent (6). All the newly identified MS risk alleles are common, exert only modest individual effects on risk (odds ratios 1.1-1.3) and act independently (6).

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Ueber infantile und hereditäre multiple Sklerose

Cited by 52 publications

References 1 publication

Multiple Sclerosis Beginning in Infancy

Multiple Sclerosis Beginning in Infancy

Multiple sclerosis genetics

CD1A and CD1E Gene Polymorphisms are Associated with Susceptibility to Multiple Sclerosis

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