摘要:

Introduction– The human leukocyte antigen (HLA) phenotype Dw2 is known to be increased in multiple sclerosis (MS), but only slightly in optic neuritis (ON). Materials and methods — 127 consecutive patients with unilateral monosymptomatic ON were typed genomically for HLA‐DR and ‐DQ genes.Results‐ The frequency of HLA‐Dw2 among ON patients (47%) was found to be significantly higher than among 250 controls (30%) but significantly lower than in a group of 245 MS patients (60%), all of the same ethnic origin. At the group level, these figures can be calculated to indicate that 53% of the ON patients belong to the group of “MS‐type ON” (95% confidence limits 25–78%). A compilation of published data on the frequency of the HLA‐DR17(3), DQ2 haplotype, prompted by a slight increase in this material, revealed a significant association with this haplotype in ON, after compensation for the increase of Dw2.Conclusion— ON differs from both MS and controls regarding HLA‐Dw2. Thus, a substantial number of patients with ON may suffer from conditions not immuno‐genetically related to MS, which might be designated as non‐MS type ON. This condition may be more common in men and in

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1996.tb07047.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

Introduction– Preferential maternal transmission in familial cases and the occasional association of multiple sclerosis (MS) and LHON suggests an involvement of mtDNA mutations in the aetiology of MS.Material&methods— DNA obtained from 100 MS patients with pathological alterations in visually evoked potentials and 100 controls, was used for PCR amplification of mtDNA segments. Mutations were identified by restriction enzyme analysis and DNA sequencing.Results— Whereas primary LHON mutations are not detected, MS patients show a higher percentage of secondary LHON mutations, usually in a combinatorial manner, than controls. Two neighbouring base pair substitutions that are alleles in aHpaII‐polymorphism in the mt tRNAThrgene are significantly more frequent in MS patients than in controls (p=0.00018).Conclusion— Primary LHON mutations are not characteristic for MS with optic involvement, but secondary LHON mutations and two substitutions abolishing aHpaII site in the mt tRNAThrgene may contribute to the aetiology of MS with optic in

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1996.tb07048.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

Introduction– The basal ganglia are thought to be involved in the primary dystonias, largely because of the repeated demonstration of neuropathological changes in these nuclei in the secondary dystonias. A hyperactivity of a network involving basal ganglia has been suggested in experimental animal dystonia. To test this hypothesis in humans, we studied the functional correlates of primary cervical dystonia using [18F]FDG and PET.Material and methods— Regional cerebral glucose metabolism (rCMRglc) was measured in 10 patients with idiopathic torticollis (6 drug‐free and 4 drug‐naive) and in 15 normal controls, using 2‐[18F]‐fluoro‐2‐deoxy‐D‐glucose ([18F]FDG) and positron emission tomography (PET).Results— A significant hypermetabolism in the basal ganglia, thalamus, premotor‐motor cortex and cerebellum in the patients compared with normal controls was found. The patients were correctly assigned to their clinical category by a discriminant function analysis with a total accuracy of 96%.Conclusion— The results support the hypothesis that a dysfunction of a subcortical‐cortical motor network may play a role in the pathogenesis of focal dystonia, in agreement with the e

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1996.tb07049.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

The limb‐girdle muscular dystrophies (LGMD) are autosomally inherited neuromuscular diseases. Recently six different loci for LGMD have been reported: 5q (LGMD1A), 15q (LGMD2A), 2p (LGMD2B), 13q (LGMD2C), 17q (LGMD2D) and 4p‐14‐q21.2 (LGMD2E) respectively. We have studied 79 patients affected by LGMD during the period 1976 to 1995. All patients were examined clinically, and various investigations, including genetics were performed. According to their data we divided them as follow: 1) Cases with autosomal recessive inheritance (34.19%) of these two families are linked to chromosome 2p and the others were subdivided according to the age at onset into childhood LGMD and juvenile‐adult LGMD; 2) Cases with dominant inheritance (13.92%); 3) Sporadic cases (51.89%). Onset of symptoms occurs from the first to the third decade. The clinical course varies considerably, as does the degree of disability. Our study allowed to identify two different groups of patients who relatively homogeneous with respect to their clinical and laboratory characte

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1996.tb07050.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

Introduction– Toxic phytanic acid concentrations in patients with Refsum's disease can be reduced by plasma separation, performed either as plasmapheresis, or as cascade filtration. The latter procedure is as efficient and safe as plasmapheresis, and eliminates the need for albumin replacement. This study investigates the loss of immunoglobulins associated with the procedure.Material and methods— Immunoglobulin‐ and phytanic acid serum concentrations before and after cascade filtration (n=16) were measured in a patient with Refsum's disease and their removal determined. Filters with sieving coefficients for immunoglobulin G of 70% and 30% were compared with each other and with historical data on plasmapheresis.Results— While differences in immunoglobulin M loss are negligible, the loss of immunoglobulin G in cascade filtration is significantly less than that reported for plasmapheresis and depends upon the pore size of the employed filters. The loss is least with larger pore size, but this advantage becomes statistically insignificant if immunoglobulin G loss is related to the lesser decrease in phytanic acid concentration that was achieved simultaneously in this study.Conclusion— Unless transplantation of a‐hydroxylase containing tissue can be established as treatment for Refsum's disease, cascade filtration appears to be the treatment of choice in order to avoid loss of albumin and to reduce the loss of immun

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1996.tb07051.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

We studied the concentration of hyaluronan in cerebrospinal fluid (CSF) in various diseases and attempted to define its reference interval. A radioassay utilizing cartilage proteins with affinity for hyaluronan was used in determining the concentration of 200 lumbar and 27 ventricular CSF specimens and 11 brain cyst fluids. Molecular weight distributions were determined by gel chromatography and localization in brain tissue by histochemistry. The hyaluronan level of lumbar CSF showed an increase with age; comparatively healthy children had (meanSD) 50·41 μg/L (n=40) and adults 166·77 μg/L (n=9); i.e. significantly different values. The highest level was recorded in a patient with meningitis (>8000 μg/L). More than 4000 μg/L was noted in a patient with tumour metastasis in the cerebellum. Significantly elevated levels were especially found with spinal stenosis, head injury and cerebral infarction, but also in inflammatory medical disorders, hydrocephalus and encephalitis. We found no significant increase in multiple sclerosis and some other neurological diseases. Ventricular CSF of adults contained significantly less hyaluronan (53·73 μg/L; n=16) than lumbar CSF. Hyaluronan in cyst fluids varied from 31 to 25,000 μg/L. Weight average molecular weight of hyaluronan in CSF was 2.9–3.0 times 105and in brain tumour cyst fluid 2.4 times 106. In search for the origin of hyaluronan in CSF it was found that its concentration in the choroid plexus and leptomeninges was low, but that hyaluronan was accumulated in the superficial layer of the cerebral cortex. Continued screening for hyaluronan in CSF may be valuable in cases of inflammatory diseases, tumours and obstruction t

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1996.tb07052.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

Introduction– There are conflicting reports concerning the variation in duration of symptoms relief for patients with hemifacial spasm who have undergone several injections of botulinum A toxin (BOTX‐A). We present our experience of BOTX‐A injections in Taiwanese patients to analyze this issues, and to inspect whether the efficacy of treatment depends on the pre‐injection severity.Material and method— From July 1992 to December 1994, 137 patients received injections of BOTX‐A. We used objective and subjective score system to evaluate the efficacy and side effects of BOTX‐A injection.Results— The overall successful rate of substantial relief of spasm was 88%. The mean duration of response was 20 weeks. Patents with more severe spasm tended to have shorter duration of improvement. The effects of consecutive injections remained fairly constant over the first 4 injections.Conclusion— The BOTX‐A injection is an effective and safe treatment for patients with hemifacial spasm and the effect could be sustained over the con

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1996.tb07053.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

Objectives— It has been assumed that the sterotyped hand movements in Rett syndrome are symmetrical, midline and that they prevent purposeful use of the hands. Their relationship with respiration has not been previously explored.Material and methods— Twenty‐five girls whose Rett syndrome included disorganised breathing were selected. Their parents were contacted and interviewed by telephone at their convenience. None refused.Results— The hand movements were asymmetrical in 44% of girls. Those with mainly unilateral hand movements used the same hand for purposeful tasks. The hand movements appeared to change with changing emotional or mental states. In 72% of girls the intensity of hand movements varied directly or inversely with the respiratory pattern.Conclusion— In almost half of the Rett girls the hand stereotypy is asymmetrical and non‐midline. It is not the hand movements which prevent purposeful use of the hands. The hand movements together with the erratic breathing are employed as a useful means of co

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1996.tb07054.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

Objective— We retrospectively studied serum and cerebrospinal fluid (CSF) specimens from AIDS patients with either Cytomegalovirus (2 cases) or Toxoplasma gondii (5 cases) encephalitis. The samples, which had previously proved to be negative for total IgG oligoclonal bands (OCBs), were investigated for antigen‐specific OCBs directed to the disease‐related opportunistic agent.Material&methods— Paired serum and CSF samples from the given AIDS patients were considered. We undertook affinity immunoblotting of either virus‐ or protozoan‐specific IgG onto antigen‐coated nitrocellulose paper after protein separation by agarose isoelectric focusing (IEF).Results— Antigen‐specific OCBs to the disease‐related opportunistic agent were detected in serum and in CSF samples from all the patients.Conclusions— During overt AIDS, routine IEF methods may fail to detect OCBs, probably because nonspecific polyclonal hypergammaglobulinemia, which is typical of this disease, reduces their visibility. Our IEF/immunoblotting profiles are characterized by identical serum and CSF bands. The detection of antigen‐specific OCBs may support the diagnosis of some opportunistic infections of the central

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1996.tb07055.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1996.tb07056.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY