Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P01889 (ankylosing spondylitis)
 5,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The purpose of this investigation was to see whether or not the hypothetical disease susceptibility locus to ankylosing spondylitis is linked to the MLC determinant 27a. Firstly, we discovered a strong MLC determinant which we called 27a because of its association with the second series specificity W27. Later, we found that this determinant was the same as that which Jorgensen et al. (1973) found to be associated with the second series specificity W5. These MLC determinants may, therefore, be in linkage disequilibrium with more than one HL-A specificity (in this case, of the second series) as previously described by Dupont et al. (1973). However, we found no association between 27a and ankylosing spondylitis. On the other hand, we confirmed the association of ankylosing spondylitis with W27 and also found an increase of HL-A2 of the first series which, however, was not statistically significant. In view of the high incidence of HL-A2 in the general population, more information is required to definitely establish such an association. We found no special association with specificities AJ and Hu (Sa 532), third series antigens, but confirmed their linkage disequilibrium with W27. Disease predisposition loci seem, therefore, to be associated with either type of MHS marker, multiple sclerosis and MLC determinant 7a, or ankylosing spondylitis and the second series antigen W27. It will be interesting to discover whether there is any special significance of the association of one marker rather than another.
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PMID:Ankylosing spondylitis and the major histocompatibility system. 4 91

A possible association between ankylosing spondylitis (AS) and multiple sclerosis (MS) has been suggested in whites. The authors describe the first report of the coexistence of AS and MS in a black patient. The clinical diagnosis of MS was further substantiated by the results of magnetic resonance imaging of the brain. The diagnosis of AS met the Rome as well as the New York criteria. The patient possessed HLA-B27; his complete HLA phenotype was Aw66, B27, Cw2, DR3, and DR5.
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PMID:Unusual occurrence of ankylosing spondylitis and multiple sclerosis in a black patient. 260 79

The prevalence of HLA-B27 in 420 patients with multiple sclerosis (MS) was 43 (10.2%). Five of 20 B27 positive patients who were further assessed clinically and radiologically had ankylosing spondylitis (AS), a prevalence of between 12 and 25%, compared with previously established prevalence rates of B27 in members of the normal population of between 1 and 2% Sixteen patients with AS underwent brainstem auditory (BAEP), visual (VEP) and somatosensory (SSEP) evoked potential studies, with only minor, and predominantly peripheral, abnormalities of SSEP, except for one patient who developed MS during the study. Our data lend some support to an association between AS and MS but refute the possibility of a frequent subclinical MS-like syndrome in AS. They show there is unlikely to be any confusion when performing evoked potential studies in patients with AS.
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PMID:Ankylosing spondylitis and multiple sclerosis: an apparent association? 326 79

Visual, brainstem auditory and somatosensory evoked potentials were studied in 30 patients with ankylosing spondylitis (AS). Twenty-four patients were male and 6 were female. The mean age was 44 years and the mean duration of AS was 16 years (range 1-34 years). Evoked potential abnormalities affecting the visual pathways were recorded in 18 (60%) patients. Somatosensory evoked potentials were abnormal in 19 (63%) patients, and 9 patients had impaired function on brainstem auditory evoked potentials. The pathophysiology of these abnormalities is unknown. We recommend that caution be exercised in interpreting delayed evoked potentials if multiple sclerosis is suspected in a patient with AS.
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PMID:Delayed evoked potentials in patients with ankylosing spondylitis. 370 27

In a review of 45 patients with ankylosing spondylitis 10 had neurological symptoms and signs and three of them had two separate neuropathological disorders. The neurological profiles fell into five main categories-multiple sclerosis, the cauda equina syndrome, focal epilepsy, vertebrobasilar insufficiency, and peripheral nerve lesions. An association between ankylosing spondylitis and multiple sclerosis is suggested, possibly due to an immunological defect or to one being a complication of the other.
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PMID:Nervous system involvement in ankylosing spondylitis. 435 25

A patient with ankylosing spondylitis developed a neurological disorder suggesting multiple sclerosis. An increased level of gammaglobulin was detected in the analysis of the cerebro spinal fluid. The response to steroid therapy, however, was unusual to that of multiple sclerosis since clinical manifestations disappeared shortly after, recurred some months later after discontinuance of the treatment, and subside again when the administration of corticosteroids was repeated. On the other hand, the patient developed an acute right peroneal neuritis with slowness of the conduction velocity. Although the association of a clinical picture resembling multiple sclerosis with ankylosing spondylitis has been reported, there are a few, and sometimes poorly documented, published cases. The literature is reviewed and the possibility of a relationship between the isolated peripheral neuritis and the underlying disease is suggested.
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PMID:[Ankylosing spondylitis with mononeuritis and possible multiple sclerosis (author's transl)]. 615 12

Statistical features of the method of antigen genotype frequencies among the diseased, for single and multiple disease associations at a locus, will be presented. A methodology to determine when a true intermediate mode of inheritance can be distinguished from strict recessive or additive inheritance will be developed. The effect of sporadics and ascertainment bias on the observed antigen genotype frequencies will be investigated. Data on ankylosing spondylitis, multiple sclerosis and dermatitis herpetiformis are very close to expectations for an additive (or dominant) mode of inheritance for the HLA-linked disease-predisposing gene, and data on hemochromatosis, insulin dependent diabetes mellitus and celiac disease are close to recessive expectations. If an intermediate model does apply in any of these cases, it must be an intermediate model that is fairly close to a strict recessive or dominant model; as appropriate. DR data for insulin dependent diabetes mellitus (IDDM) strongly indicate that there are two separate "disease" alleles, which exhibit negative complementation, predisposing individuals to IDDM, where the mode of inheritance of the "disease" alleles considered separately is close to recessive. In general, this method cannot rule out the existence of sporadics or a second disease-predisposing gene, when the penetrance values over the two disease-predisposing genes are strictly additive, for diseases showing agreement with additive (or dominant) modes of inheritance.
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PMID:Investigation of the mode of inheritance of the HLA associated diseases by the method of antigen genotype frequencies among diseased individuals. 640 4

Although less frequently, ankylosing spondylitis (AS) may also occur during childhood. The present report describes the clinical features in 24 patients with AS of juvenile onset and its comparison with those found in 71 patients with adult onset AS. A slightly increased prevalence of female patients was found in the juvenile onset group. Peripheral joint involvement as a mono- or oligoarticular arthritis was significantly more frequent in juvenile onset patients, not only as a mode of onset but also during the course of the disease. 5.4 years after onset all these patients had developed axial involvement. Extra-articular manifestations occurred with similar frequency in juvenile and adult onset patients. One juvenile patient had associated multiple sclerosis; one juvenile and one adult onset patient developed amyloidosis. Impairment of functional capacity was more severe in the juvenile onset group; hip joint involvement was closely related to a poorer prognosis.
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PMID:Ankylosing spondylitis of juvenile onset: comparison with adult onset disease. 662 13

The genes of the human leukocyte antigen (HLA) region, the major histocompatibility complex (MHC) of humans, control a variety of functions involved in immune response and influence susceptibility to over 40 diseases. Theoretical studies in the development of models to determine the modes of inheritance of the HLA-associated diseases have led to a better understanding of the inheritance patterns in insulin-dependent diabetes mellitus (IDDM), rheumatoid arthritis, multiple sclerosis, ankylosing spondylitis, hemochromatosis, celiac disease, and others. It is now clear that many of the HLA-associated diseases involve heterogeneity in their HLA components, as well as non-HLA genetic factors. This review is presented using HLA-associated diseases, and in particular IDDM, as the example of interest, but the observations and techniques presented have direct relevance to the study of all human diseases with a complex genetic component. Three methods for localizing disease-predisposing genes are presented: (1) association studies, including population, family, and relative predispositional effects, (2) affected sib pair and other affected-relative methods, and (3) lod score analysis. A variety of complementary methods for studying the mode(s) of inheritance of the alleles at the disease-predisposing locus and for identifying the alleles and amino acids directly involved in the disease process also are presented.
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PMID:HLA disease associations: models for the study of complex human genetic disorders. 759 90

Two men with longstanding ankylosing spondylitis (AS) developed spastic paraparesis. Extensive investigation failed to find a cause and it was concluded that some acute undetermined intrinsic spinal cord lesion had occurred. Similar descriptions in the past have been attributed to associated multiple sclerosis, but we suggest that the finding may represent a rare complication of AS with an unknown etiology.
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PMID:Intrinsic spinal cord lesions in 2 patients with ankylosing spondylitis. 793 36


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