摘要:

Introduction– fatigue is a common and disabling symptom in multiple sclerosis (MS). In this study we evaluated if fatigue is associated with different demographic and clinical features of MS.Material‐ A survey was performed on 507 consecutive patients affected by clinically definite MS referred to our centre between January 1 and December 31, 1993. During the examination patients were asked to answer a brief fatigue questionnaire. To evaluate the probability of the occurrence of fatigue in association with several covariant factors (age, sex, duration, disease form, disease severity, month of examination, functional sub‐systems on the expanded disability status scale (EDSS), a logistic regression analysis was performed.Results‐ we confirmed that fatigue is common in MS, recorded in 53% of patients. Patients affected by a more severe disability, by progressive MS, both primary and secondary, with an older age at examination, and assessed during spring, had a significantly higher risk of fatigue. Sex was not associated with the occurrence of fatigue. When the single items of EDSS were considered, we found that fatigue is also associated with the occurrence of cerebellar, sphincteric, pyramidal and sensitive signs, but not with brain stem, visual and cognitive impairment.Conclusion‐ fatigue in MS is more frequent in association with specific clinical

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1995.tb00145.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY

摘要:

Autonomic dysfunction is frequent in patients with multiple sclerosis (MS). The sympathetic skin response (SSR) and the R‐R interval variation (RRIV) are simple electrophysiologic tests for the assessment of central and peripheral autonomic disturbances. Both tests were performed in 60 patients with clinically definite MS and 30 controls. The SSR was recorded simultaneously from both upper and both lower limbs. In all volunteers normal responses were recorded from the four limbs, but 39 patients (65%) showed abnormal responses in at least one limb. The reduction in amplitude of the response was correlated with patients' EDSS. In individual limbs, the SSR amplitude correlated with weakness, spasticity and cerebellar dysfunction, but was not sufficiently related to the deep sensory loss. The RRIV was abnormal in 48 MS patients (80%), as compared to the controls, but showed no significant relationship either to the EDSS or to the SSR. The sensitivity of SSR and RRIV is high and comparable with that of visual and somatosensory evoked potential

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1995.tb00146.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY

摘要:

The relevance of abnormalities in the distribution of peripheral blood T lymphocyte subsets to the clinical manifestations of multiple sclerosis is not firmly established. A clinical and immunological follow‐up of relapsing‐remitting multiple sclerosis patients was performed in order to study the relationship of immune changes with the clinical course of the disease. Twenty patients were monitored monthly during a mean time of nine months for peripheral blood lymphocyte subsets (CD3, CD4, CD8, CD19), including the immunoregulatory subsets CD4CD29 (helper‐inducer), and CD4CD45RA (suppressor‐inducer) and activated T helper cells (CD4CD25) by flow cytometry. A total of 14 untreated relapses was included. The most significant observations were a decrease in T suppressor‐inducer CD4+CD45RA+subset during clinical relapses (P= 0.028) that was also detectable one month before (P= 0.020) and the lack of changes in CD4+CD29+and CD8+T cells. In addition, variations in the percentage of CD4+CD25+activated T helper cells were not associated with clinical exacerbations. These results indicate the existence of a temporal association of immune changes in peripheral blood, but not activation, with the clinical manifestations of multiple

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1995.tb00147.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY

摘要:

Some investigators reported pharmacogenetic differences in the metabolism of sulfur‐containing drugs and lower plasma sulfate levels in patients with Parkinson's disease (PD) compared with controls. However, other group did not confirm these findings. We studied the plasma levels of sulfate by indirect atomic absorption spectrophotometry in 55 PD patients and 57 age and sex‐matched controls. The plasma sulfate levels did not differ significantly between PD patient and control groups (mean ± SEM 73 ± 8 and 75 ± 7 mg/1, respectively). They were not influenced by antiparkinsonian drugs and they did not correlate with age at onset, duration, Hoehn&Yahr staging or activities of daily living subscale of the Unified Parkinson's disease rating scale. There was a low but significant correlation of plasma sulfate levels with motor examination (r= ‐ 0.36,p<0.05) and total score (r=−0.33,p<0.05) of this scale in the PD group. These data suggest that plasma sulfate levels are apparently unrelated with the r

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1995.tb00148.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY

摘要:

Nine consecutive patients with essential mixed cryoglobulinaemia type II (EMCII) were investigated by a follow‐up study of 3–6 years (mean 5.3), to verify the long‐term outcome of the peripheral nerve involvement in the disease. At the beginning of the study, a peripheral neuropathy, mild or moderate, mainly sensory, was present approximately in 50% of cases. All patients maintained good general conditions, low‐staging of EMCII, were well controlled by therapy or did not need any medical treatment. During the neurological follow‐up all patients had regular controls, usually at 1‐year intervals, and only slight changes were seen with respect to the first evaluation. Therefore, we conclude that peripheral neuropathy during EMCII is less progressive than it can be thought at least in patients with benign course of

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1995.tb00149.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY

摘要:

We describe the clinical details of 20 elderly patients with idiopathic small fiber neuropathy. This neuropathy is ubiquitous in practice but has not been well characterized. The clinical syndrome is relatively stereotyped and appears to be a frequent cause of burning feet in the elderly. The main features were burning, painful paresthesias and dysesthesias in the feet, lancinating pains, moderate to severe distal small fiber sensory loss, absent ankle reflexes, and minimal or no distal foot weakness. All but 2 had mild loss of vibration sense but none had significant proprioceptive loss or sensory ataxia. EMG was normal in 9 while the others had a mild sensorimotor axonal neuropathy. Sural nerve biopsy was normal in 3 and showed axonal loss in 6. Progression was slow, and although pain was a troublesome symptom, no patient became disabled. Symptoms were refractory to most symptomatic therapies but several patients improved with gammaglobulin infusions.

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1995.tb00150.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY

摘要:

Transcranial magnetic stimulation (TMS) and transcranial electrical stimulation (TES) of the human motor cortex produce a silent period (SP) following motor evoked potentials (MEPs). The early part of the SP can be explained by decreased alpha motor neuron excitability, whereas the late part is presumably due to suprasegmental mechanisms. In order to determine the level of the suprasegmental contribution to the generation of SPs, we recorded excitatory and inhibitory responses to TMS, TES, and percutaneous electrical brainstem stimulation (PBS) in the voluntarily activated first dorsal interosseous muscle of the hand. Stimulus intensities were set so that PBS and TES induced MEPs with areas equal to or larger than those of MEPs obtained with TMS. This procedure revealed that SPs were 49% and 83% shorter with TES and PBS, respectively, than with TMS. As TMS is more effective than TES or PBS in activating cortical interneurons, these findings support the idea that a significant component of the SP arises from intracortical mechanisms.

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1995.tb00151.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY

摘要:

Introduction– The significance of the association of motor neuron syndromes with anti‐GM1 antibodies remains unclear. We report the immunological study of a juvenile case of amyotrophic lateral sclerosis (ALS).Material and methods‐ Serum anti‐GM1 and anti‐neurofilament antibodies were assayed by ELISA and western blotting and cerebrospinal fluid (CSF) isoelectrofocusing was performed. Immunocytochemical studies were carried out with the patient's serum and CSF on human brain and spinal cord sections.Results‐ Serum polyclonal IgM anti‐GM1, anti‐neurofilament antibodies and CSF oligoclonal bands were detected. Furthermore, anin vitroproduction of anti‐GM1 IgM was demonstrated. Immunocytochemical studies showed cytoplasm motor neuron immunostaining, due to both IgG and IgM, that substantially decreased after immunoabsorption of the serum with bovine neurofilament proteins but not with GM1‐containing liposomes. No immunostaining was obtained with CSF. Immunosuppressive treatment with cyclophosphamide and two cycles of plasma exchanges lowered anti‐GM1 antibody levels, but did not determine any clinical improvement.Conclusion‐ To our knowledge, this is the first report of ALS, associated with circulating levels andin vitroproduction of polyclonal IgM anti‐GM1, anti‐neurofilament antibodies and CSF oligoclonal bands. These findings suggest the occurrence in our patient of an autoimmune process that could be involved

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1995.tb00152.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY

摘要:

We have investigated nine maternal offsprings to patients with a hereditary syndrome of cerebellar ataxia, photomyoclonus, skeletal deformities and lipoma, originally described by Ekbom. The nine family members underwent a thorough neurological examination, neurophysiological investigations and molecular genetic analysis of mtDNA from lymphocytes and muscle. Clinical examination showed a partial syndrome in one relative and minor signs and symptoms in three additional offsprings. We found the heteroplasmic tRNALySA8344G point mutation in mtDNA in all investigated maternal offsprings. The fraction of mutated mtDNA ranged from 33 to 87% in lymphocytes and from 59 to 92% in muscle tissue. Analysis of mtDNA from a lipoma showed a high level (96%) of the tRNALySA8344G mutation. We conclude that Ekbom's syndrome is a mitochondrial encephalomyopathy associated with the same heteroplasmic tRNA mutation as seen in myoclonus epilepsy with ragged‐red fiber (MERRF) syndrom

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1995.tb00153.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY

摘要:

Kennedy‐Alter‐Sung (KAS) disease is a hereditary lower motor neuron disease. In this study, we investigated 2 KAS patients presenting with progressive muscle weakness and wasting, action tremor, perioral fasciculation and gynecomastia. Three carriers and 5 healthy members from this 3–generation KAS Chinese family and 60 normal Chinese controls were included in this study. Hormone studies revealed normal serum level in thyrotropin, prolactin, testosterone, leuteinizing hormone, follicle stimulating hormone, and estradiol. Lipid study disclosed type IV hyperlipoproteinemia in 2 KAS patients and 3 healthy members. Molecular studies revealed that the number of CAG triplet repeats in the first exon of androgen receptor gene of the normal allele is in the range of 15–19 and 12–25 in this family and normal controls, respectively. However, the number of CAG repeat of androgen receptor gene were unstable in the mutant alleles with a range of 41–45 and increased from generation to generation (genomic anticipation) in the 2 KAS patients and 3 female carriers. We conclude that the CAG triplet repeats in mutant alleles were unstable in the family with the KAS disease. Furthermore, type IV hyperlipoproteinemia may be a co‐transmitted syndrome in the family wit

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1995.tb00154.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY