1/8. A case of McLeod syndrome with unusually severe myopathy.A 51-year-old man developed weakness and muscle atrophy in the legs at the age of 41, later followed by choreiform involuntary movements. Neurological and laboratory examinations revealed severe muscle weakness and atrophy, and areflexia in all the extremities, acanthocytosis and an elevated serum creatine kinase level. Together with these findings, the weak expression of Kell blood group antigens and the absence of the Kx antigen led to a definite diagnosis of McLeod syndrome for his condition. brain magnetic resonance imaging revealed marked atrophy of the head of the caudate nuclei. Although immunocytochemical analysis of dystrophin in muscle specimens from our patient revealed normal staining, we found prominent fiber size variability, central nuclei, and connective tissue proliferation as well as necrotic and regenerating fibers, which are as a whole compatible with the myopathology of muscular dystrophy. Moreover, muscle computerized tomography of the lower extremities revealed the 'selectivity pattern' characteristically reported in muscular dystrophies including Duchenne type muscular dystrophy. The muscular symptoms and pathology in McLeod syndrome have been reported to be mild, but the present case clearly shows that the muscular features in this condition may be much more severe than previously thought.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
2/8. The chorea of McLeod syndrome.Among the movement disorders associated with acanthocytosis, McLeod syndrome (McKusick 314850) is the one that is best characterized on the molecular level. Its defining feature is low reactivity of Kell erythrocyte antigens. This is due to absence of membrane protein KX that forms a complex with the Kell protein. KX is coded for by the XK gene on the X-chromosome. We present six males (aged 29 to 60 years), with proven XK mutations, to discuss the chorea associated with McLeod syndrome. The movement disorder commonly develops in the fifth decade and is progressive. It affects the limbs, the trunk and the face. In addition to facial grimacing, involuntary vocalization can be present. In early stages there may only be some restlessness or slight involuntary distal movements of ankles and fingers. lip-biting and facial tics seem more common in autosomal recessive choreoacanthocytosis linked to chromosome 9. This, together with the absence of dysphagia in McLeod syndrome, may help in differential diagnosis. Recent findings suggest a role for the endothelin system of the striatum in the pathogenesis of McLeod syndrome.- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |
3/8. Senescent cell antigen, band 3, and band 3 mutations in cellular aging.As part of our ongoing studies on mechanisms of cellular aging, we searched for "experiments of nature" that might provide insights into the process of normal cellular aging. Our search for band 3 protein alterations resulted in the discovery of three different ones. A band 3 alteration that results from an addition to band 3 does not alter red cell lifespan or produce clinical disease. In contrast, two band 3 alterations that are associated with band 3 aging and/or degradation are characterized by shortened red cell lifespan and clinical diseases.- - - - - - - - - - ranking = 2keywords = antigen (Clic here for more details about this article) |
4/8. ECHO 25 focal encephalitis and subacute hemichorea.ECHO virus 25 focal encephalitis was documented for the first time in a 5-year-old boy with unequivocal hemichorea. Hemichorea caused by enterovirus CNS disease has never been reported. ECHO virus antigen in cerebrospinal fluid (CSF) cells was demonstrated by the indirect immunofluorescent technique and typed by a significant rise in neutralizing antibodies against ECHO virus 25. Sequential computerized tomographic (CT) studies with digital analysis demonstrated the evolution of a focal process in the head of the left caudate nucleus, ultimately leading to replacement of tissue by a CSF-containing cyst. In the unclarified pathogenesis of cerebral disease in enterovirus infection, this case suggests a focal inflammatory process rather than vasculitis, occlusion, and infarction. Finally, the near-complete recovery of our patient demonstrated that the mere loss of neostriatal tissue was not decisive in itself, because the tissue loss was permanent and the symptoms were transient.- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |
5/8. An early-onset recessive cerebellar disorder with distal amyotrophy and, in two patients, gross myoclonia: a probable ataxia telangiectasia variant.We report a family of 4 siblings from a non-consanguineous marriage, presenting with an early onset recessive cerebellar ataxia and progressive distal limb wasting. Ocular or other telangiectasias were absent. There were neither frequent infections nor immunodeficiencies. The two youngest patients exhibited an incapacitating myoclonus which abated markedly after 20 years. Late onset diabetes was demonstrated in 3 patients. hypogonadism was not a feature and there was a prolonged survival in the 4 patients. The oldest sibling died of a pancreatic adenocarcinoma. alpha-Fetoprotein was elevated with normal carcinoembryonic antigen values in three patients. cytogenetic analysis and radioresistant dna synthesis was compatible with the diagnosis of ataxia-telagiectasia. This family probably represents a rare variant of ataxia-telangiectasia.- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |
6/8. Atypical McLeod syndrome manifested as X-linked chorea-acanthocytosis, neuromyopathy and dilated cardiomyopathy: report of a family.We report a family with three members affected by a typically X-linked McLeod syndrome. In the proband a very weak positivity for antigens of the Kell group was detected. His sister showed a normal antigenic pattern. We emphasize the prominent neurological picture characterized by a choreic syndrome with atrophy of the caudate nucleus on MRI, psychiatric disturbances, peripheral nerve and muscle biopsy findings indicating slight neuromuscular involvement, and cardiac abnormalities. The differential diagnosis is discussed.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
7/8. Diagnostic use of B-cell alloantigen D8/17 in rheumatic chorea.Two unrelated patients with a family history of rheumatic fever had isolated, acquired chorea. Both index cases, as well as affected family members, had increased expression of the rheumatic B-cell alloantigen D8/17. This test may help differentiate Sydenham chorea from lupus chorea.- - - - - - - - - - ranking = 2.5keywords = antigen (Clic here for more details about this article) |
8/8. chorea-acanthocytosis with polyclonal antibodies to ganglioside GM1.A patient with chorea-acanthocytosis presenting with axonal neuropathy showed an elevation in IgM polyclonal antibodies to the GM1 ganglioside, which were estimated by enzyme-linked immunosorbent assay and complement-mediated liposome immune lysis assay (LILA). This is the first demonstration of such antibodies in chorea-acanthocytosis. Anti-GM1 antibodies might have directly caused the axonal neuropathy by binding to GM1 or cross-reactive antigens in the nerves.- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |