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N C Notermans

Publications and source records attributed to N C Notermans.

At least 19 recordsLinked to original sources
PubMed2003

Increase of sural nerve T cells in progressive axonal polyneuropathy and monoclonal gammopathy.

The authors investigated whether T cells have a role in the pathogenesis of axonal polyneuropathy and monoclonal gammopathy by comparing the presence of T cells in sural nerves of 23 patients with axonal polyneuropathy and monoclonal gammopathy (12 IgM, 11 IgG), of 15 patients with chronic idiopathic axonal polyneuropathy, and of 10 autopsy cases. Seven patients with an increased T-cell density had a progressive disease course, and four of these patients were treated with prednisone with a good response, suggesting that vasculitis plays a role in the pathogenesis.

Axons↗
PubMed2002

Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis.

BACKGROUND: International prevalence estimates of autosomal dominant cerebellar ataxias (ADCA) vary from 0.3 to 2.0 per 100,000. The prevalence of ADCA in the Netherlands is unknown. Fifteen genetic loci have been identified (SCA-1-8, SCA-10-14, SCA-16, and SCA-17) and nine of the corresponding genes have been cloned. In SCA-1, SCA2, SCA3, SCA6, SCA7, SCA-12 and SCA-17 the mutation has been shown to be an expanded CAG repeat. Previously, the length of the CAG repeat was found to account for 50 to 80% of variance in age at onset. Because of heterogeneity in encoded proteins, different pathophysiologic mechanisms leading to neurodegeneration could be involved. The relationship between CAG repeat length and age at onset would then differ accordingly. METHOD: Based on the results of SCA mutation analysis in the three DNA diagnostic laboratories that serve the entire Dutch population, the authors surveyed the number of families and affected individuals per SCA gene, as well as individual repeat length and age at onset. Regression analysis was applied to study the relationship between CAG repeat length and age at onset per SCA gene. The slopes of the different regression curves were compared. RESULTS: On November 1, 2000, mutations were found in 145 ADCA families and 391 affected individuals were identified. The authors extrapolated a minimal prevalence of 3.0 per 100,000 (range 2.8 to 3.8/100,000). SCA3 was the most frequent mutation. CAG repeat length contributed to 52 to 76% of age at onset variance. Regression curve slopes for SCA-1, SCA2, SCA3, and SCA7 did not differ significantly. CONCLUSIONS: The estimated minimal prevalence of ADCA in the Netherlands is 3.0 per 100,000 inhabitants. Except for SCA6, the relationship between age at onset and CAG repeat expansion does not differ significantly between SCA-1, SCA2, SCA3, and SCA7 patient groups in our population, indicating that these SCA subtypes share similar mechanisms of polyglutamine-induced neurotoxicity, despite heterogeneity in gene products.

Adult↗
PubMed2002

Quantitative assessment of the innervation of epineurial arteries in the peripheral nerve by immunofluorescence: differences between controls and patients with peripheral arterial disease.

The peripheral nerve is supplied by the vasa nervorum. The epi- and perineurial vessels are innervated by an autonomic plexus, which plays a role in regulation of the endoneurial blood flow. This innervation is decreased in diabetes and alcohol polyneuropathy and seems to precede the development of diabetic polyneuropathy. A decreased innervation may therefore play a role in the development of polyneuropathy. In peripheral arterial disease (PAD) clinical and morphological features are present, related to severity of ischemia. To investigate the innervation of the vasa nervorum in severe ischemia, we performed immunofluorescence staining with the general neural marker protein gene product (PGP) 9.5 in whole mount preparations of epineurial vessels of nine sural nerves taken from patients with legs amputated because of severe PAD (59+/-15 years, mean +/- SD) and ten age-matched controls (61+/-24 years). In patients with PAD the nerve density of the perivascular plexus was decreased in comparison with controls (mean intercept density/mm +/- SD) 26.0+/-6.9 in PAD and 39.9+/-10.7 in controls, area% 6.0+/-1.6 in PAD and 9.9+/-2.6 in controls, both P<0.01, t-test). A decreased perivascular plexus may result in a diminished regulation of the endoneurial blood flow in patients with severe PAD.

Adult↗
PubMed2002

Response to exercise of patients with idiopathic hyper-CK-emia.

Patients with an idiopathic increase in serum creatine kinase (CK) levels (hyper-CK-emia) have a benign prognosis, but symptoms may be disabling in daily life. Previous studies have suggested that physical exercise increases the severity of complaints in these patients. We studied whether maximal and submaximal bouts of exercise on a cycle ergometer are harmful for patients with idiopathic hyper-CK-emia. Such dynamic exercise did not lead to larger increases in serum CK activity or more complaints in 11 patients with idiopathic hyper-CK-emia, compared with 11 age-matched healthy controls. Our data suggest that exercise does not result in more extensive muscle damage in patients with idiopathic hyper-CK-emia than in healthy subjects.

Adolescent↗
PubMed2002

Is cardiovascular disease a risk factor in the development of axonal polyneuropathy?

OBJECTIVES: To determine if cardiovascular disease may be a risk factor in the development of chronic idiopathic axonal polyneuropathy (CIAP). METHODS: In this incidence case-control study, the prevalence of cardiovascular disease and risk factors in 97 patients with CIAP (mean age 67.5 (SD 7.9) years) and the prevalence of neuropathic features in 97 patients with peripheral arterial disease (PAD) (mean age 67.1 (SD 7.3) years) were investigated. The results were compared with those for 96 age and sex matched controls without diagnosed PAD or polyneuropathy (mean age 67.5 (SD 9.1) years). In a randomly chosen subgroup of 23 patients with CIAP, 42 patients with PAD, and 48 controls, an electrodiagnostic investigation was performed. RESULTS: Patients with CIAP more often had manifest cardiovascular disease and cardiovascular risk factors than controls (stroke 18% v 6% of patients, odds ratio (OR) 3.2 (95% confidence interval (CI) 1.8 to 5.9); heart disease 29% v 15%, OR 2.4 (95% CI 1.2 to 4.9); family history of cardiovascular disease 42% v 21%, OR 2.8 (95% CI (1.5 to 5.2); hypertension 56% v 39%, OR 2.0 (95% CI 1.1 to 3.6); hypercholesterolaemia 46% v 21%, OR 3.3 (95% CI 1.5 to 7.3); current smoking 38% v 23%, OR 2.1 (95% CI 1.1 to 3.9)). The prevalence of cardiovascular disease and cardiovascular risk factors was lower than in patients with PAD. Patients with PAD more often had polyneuropathy than controls (15% v 5%, OR 3.3 (95% CI 1.1 to 10.0)). There was a trend towards lower nerve conduction velocities and lower amplitudes on electrodiagnostic investigation compared with controls. CONCLUSION: This study shows that cardiovascular disease and CIAP often coexist, and therefore cardiovascular disease may be a cofactor in the development of CIAP.

Aged↗
PubMed2001

Antiganglioside antibodies in polyneuropathy associated with monoclonal gammopathy.

Antibody reactivity to GA1, GM1, GM2, GD1a, GD1b, and GQ1b gangliosides was measured in 87 patients with polyneuropathy associated with monoclonal gammopathy (60 IgM, 25 IgG, 2 IgA) and 42 control patients with monoclonal gammopathy without polyneuropathy (21 IgM, 21 IgG). Of these 87 patients, 30% had anti-myelin-associated glycoprotein antibodies and 15% had antiganglioside antibodies. Antiganglioside antibodies were significantly associated with demyelinating neuropathy and with IgM monoclonal gammopathy. Anti-GD1b and anti-GQ1b antibodies were significantly associated with predominantly sensory ataxic neuropathy.

Adult↗
PubMed2001

Sural nerve T cells in demyelinating polyneuropathy associated with monoclonal gammopathy.

The clinical presentation of polyneuropathy associated with monoclonal gammopathy is heterogeneous. As T cells in sural nerve biopsy specimens may represent a marker of inflammation, we analyzed whether the presence of sural nerve T cells in patients with demyelinating polyneuropathy associated with monoclonal gammopathy may help to define a specific clinical entity. Using immunohistochemical analysis we investigated the number and distribution of sural nerve T cells in 18 patients with polyneuropathy associated with IgM monoclonal gammopathy (including 14 with antibodies to the myelin-associated glycoprotein) and 7 with IgG monoclonal gammopathy, and compared them with sural nerves of 23 patients with chronic inflammatory demyelinating polyneuropathy (CIDP), 15 patients with chronic idiopathic axonal polyneuropathy (CIAP), and 10 normal controls. Six patients with polyneuropathy associated with monoclonal gammopathy had increased T cell densities compared with CIAP patients and normal controls. No differences were found in distribution or phenotype of the T cells. T cell densities in patients with IgM monoclonal gammopathy were significantly lower than in patients with IgG monoclonal gammopathy or with CIDP. Increased sural nerve T cells were significantly associated with a subset of patients who had a more progressive disease course and more pronounced weakness. Increased sural nerve T cells were found significantly more often in patients with a monoclonal gammopathy of the IgG isotype, which was frequently associated with hematological malignancy.

Adult↗
PubMed2001

Neuropathy and IgM M-proteins: prognostic value of antibodies to MAG, SGPG, and sulfatide.

BACKGROUND: In polyneuropathy associated with immunoglobulin M (IgM) monoclonal gammopathy, antibodies to myelin-associated glycoprotein (MAG), sulfoglucuronyl paragloboside (SGPG), and sulfatide have been associated with specific clinical and electrophysiologic features. However, it is not known whether the results of antibody tests provide additional information for the individual patient (and the neurologist) in terms of future neurologic deficit or outcome. OBJECTIVE: To study the independent contribution of potential prognostic factors to the prediction of outcome of neuropathy associated with IgM monoclonal gammopathy. METHODS: In accordance with the chronology in which prognostic factors are available in clinical practice, the association between prognostic factors and outcome was evaluated by univariate and multivariate logistic regression analysis in 65 patients with polyneuropathy and IgM monoclonal gammopathy. RESULTS: In univariate analysis, the initial symptoms, the IgM light chain type, electrophysiologic and pathologic studies, the presence of sural nerve IgM deposition, and anti-MAG or anti-SGPG antibodies were significantly associated with outcome. However, multivariate analysis showed that only initial symptoms and electrophysiologic studies are independent prognostic factors: initial sensory symptoms of the feet are prognostic for a slowly progressive disease course and less disability at 4 years, and evidence for demyelination on electrophysiologic examination is prognostic for development of weakness and symptoms of the upper extremities at 4 years. Addition of anti-MAG or anti-SGPG antibody tests did not yield any additional prediction of outcome. CONCLUSION: These results indicate that in clinical practice, antibody tests in polyneuropathy associated with IgM monoclonal gammopathy do not have a prognostic value in terms of future neurologic deficit or outcome.

Globosides↗
PubMed2001

Risk factors for hematological malignancy in polyneuropathy associated with monoclonal gammopathy.

Polyneuropathy associated with monoclonal gammopathy of undetermined significance (MGUS) is a well-known disease entity. Of the patients with monoclonal gammopathy without neuropathy, 25% develop a hematological malignancy during long-term follow-up. Whether the frequency of hematological malignancy is similar in patients with polyneuropathy associated with monoclonal gammopathy and whether hematological screening is necessary in these patients is unknown. To determine the frequency of and risk factors for a hematological malignancy, we investigated 104 patients with polyneuropathy and monoclonal gammopathy. Potential diagnostic variables were obtained from medical history, physical and neurological examination, and laboratory analysis. The associations between potential diagnostic variables and outcome, hematological malignancy, were evaluated by univariable and multivariable logistic-regression analysis. Among our patients, 23 had a hematological malignancy (8 multiple myeloma, 10 low-grade lymphoma, 3 plasmacytoma, 1 Castleman's disease and 1 POEMS syndrome [polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes]). Weight loss, progression of the neuropathy, and an M-protein level > 1 g/L were independent risk factors for malignancy. Extensive screening is indicated in patients with these features.

Adult↗
PubMed2001

MRI of the brachial plexus in polyneuropathy associated with monoclonal gammopathy.

On magnetic resonance (MR) imaging of the brachial plexus increased signal intensity and swelling of the brachial plexus has been found in chronic inflammatory demyelinating polyneuropathy (CIDP). Whether these proximal abnormalities are also present in the distal polyneuropathy associated with monoclonal gammopathy is unknown. Therefore, we performed MR imaging of the brachial plexus in 21 patients with polyneuropathy associated with IgM monoclonal gammopathy (11 IgM with anti-MAG antibodies, 10 IgM without anti-MAG antibodies). For comparison we studied 9 patients with polyneuropathy associated with IgG monoclonal gammopathy and 8 patients with CIDP. Among the 30 patients with monoclonal gammopathy, 24 patients had demyelinating polyneuropathy. Among these 24 patients, there was increased signal intensity of the brachial plexus on the T2-weighted images regardless of whether clinical deficits were generalized or purely distal in location. No association was found with the isotype of the monoclonal gammopathy. Of the 8 patients with CIDP, 5 had brachial plexus abnormalities. None of the 6 patients with axonal polyneuropathy associated with monoclonal gammopathy had such abnormalities. Thus, MR imaging of the brachial plexus shows that the distal demyelinating polyneuropathy associated with monoclonal gammopathy is more generalized than presumed.

Adult↗
PubMed2001

Medullary cone movement in subjects with a normal spinal cord and in patients with a tethered spinal cord.

PURPOSE: To compare movement of the normal medullary cone when the patient has changed from a supine to prone position with that in patients with known or suspected tethered spinal cord syndrome. MATERIALS AND METHODS: Fifty-six individuals divided into three groups were examined with lumbar spine magnetic resonance (MR) imaging performed with the patient in the prone and supine positions. Group 1 consisted of 15 healthy volunteers and six patients with a herniated disk; group 2, 25 patients clinically suspected of having a tethered cord; and group 3, 10 patients who previously had undergone tethered cord surgery. RESULTS: All group 1 subjects showed distinct and statistically significant medullary cone movement (range, 21%--41%); no patient in group 3 showed movement (Wilcoxon rank sum test, P <.001). In group 2, the 20 patients in whom a definite diagnosis of tethered cord syndrome was made on the basis of initial supine MR image findings showed no movement, whereas two of five patients with normal supine MR images had abnormal and decreased cone movement at prone imaging. CONCLUSION: Prone MR imaging has no additional value when the supine MR image has clearly shown the cause of tethering or in patients who have undergone tethered cord surgery, but it can provide additional information in patients clinically suspected of having a tethered cord and in whom supine MR imaging depicted no abnormalities.

Adolescent↗
PubMed2001

Surgery in adults with tethered cord syndrome: outcome study with independent clinical review.

OBJECT: The authors conducted a study to evaluate the risks and short-term benefits of surgical treatment for tethered cord syndrome (TCS) in patients older than 18 years of age. METHODS: The authors studied a series of 57 consecutive adult patients with TCS of varying origins. Patients were examined by the same neurologist in a standardized fashion before and after surgery, and most were followed for at least 2 years postoperatively. Patient age ranged from 19 to 75 years. The mean age at onset of symptoms and diagnosis was 30 years and 37 years, respectively. Muscle strength improved (15 cases) or showed no change postoperatively (38 cases) in a large majority of patients (93%). In four patients a minor decrease in muscle strength was demonstrated, and there was significant deterioration in two (3.5%). In the two latter patients, a rapid decline in motor function was present preoperatively. Subjective assessment of pain, gait, sensory function, and bladder/bowel function at 4 weeks, 6 months, and 2 years postsurgery revealed improvement in a substantial percentage of patients. No major surgery-related complications occurred. CONCLUSIONS: This is the largest series to date in which adult patients with TCS comprise the report. Untethering procedures in these patients were safe and effective, at least in the short term. Patients with rapid loss of motor function, lipomyelomeningocele, or split cord malformation seem to be at a higher risk of postsurgery deterioration. A follow-up period of many more years will be necessary to determine whether aggressive surgery is beneficial in the long term.

Adult↗
PubMed2000

Three families with polyneuropathy associated with monoclonal gammopathy.

OBJECTIVE: To report familial occurrence of polyneuropathy associated with monoclonal gammopathy. DESIGN: Case reports. PATIENTS: We describe 6 patients (3 pairs) with a polyneuropathy associated with IgM monoclonal gammopathy. Four of the 6 patients had a demyelinating polyneuropathy on neurophysiological examination. Three patients had elevated antibodies against myelin-associated glycoprotein. No duplication on chromosome 17 or a mutation on chromosome 1 was found in any family. CONCLUSION: Familial occurrence of polyneuropathy without the presence of hereditary motor and sensory neuropathy type I is a reason to search for the presence of monoclonal gammopathy.

Aged↗
PubMed2000

Diagnostic criteria for demyelinating polyneuropathy associated with monoclonal gammopathy.

In order to define diagnostic criteria for the demyelinating polyneuropathy associated with monoclonal gammopathy of undetermined significance (MGUS), we compared 30 patients with idiopathic chronic inflammatory demyelinating polyneuropathy (CIDP) without a monoclonal gammopathy, with 29 patients with polyneuropathy associated with MGUS. All 59 patients fulfilled research criteria for CIDP. In the patients with MGUS, sensory symptoms and signs predominated, there was usually no cranial nerve involvement, and the neuropathy was symmetrical with a slowly progressive course. On electrophysiological examination, an abnormal median nerve sensory action potential in combination with a normal sural nerve action potential (AMNS) was not found. In idiopathic CIDP patients, a preceding infection was frequent, motor features predominated, there was often cranial nerve involvement, the neuropathy could be asymmetrical, and AMNS was frequently found. Diagnostic criteria for demyelinating polyneuropathy associated with MGUS are presented.

Action Potentials↗
PubMed2000

Benign prognosis in idiopathic hyper-CK-emia.

We report on the long-term follow-up in 31 patients with idiopathic hyper-CK-emia. At referral, all patients underwent a neurological interview and examination. Ancillary investigations included an open muscle biopsy and electromyography (EMG) in almost all, and other ancillary tests in some patients. After a follow-up period of 7.2 (mean; range 4-18) years, 74% of the patients had a final evaluation. The most common complaints at referral were fatigue and myalgia. EMG and muscle biopsy demonstrated minor, non-diagnostic abnormalities in 30 and 71% of patients, respectively. At follow-up, the pattern and the number of complaints had not changed substantially. One patient developed a sensory polyneuropathy. Neurological abnormalities were absent in all other patients. In conclusion, long-term follow-up of patients with idiopathic hyper-CK-emia does not reveal clinical deterioration. It seems justifiable to refrain from routine long-term follow-up in these patients.

Adolescent↗
PubMed2000

Thickness of endoneurial vessel basal lamina area in chronic idiopathic axonal polyneuropathy.

For chronic idiopathic axonal polyneuropathy (CIAP), even after extensive evaluation, no cause has yet been found. Considering the age and sex distribution of patients with this disease, it is possible that vascular disease plays a role in the development of this polyneuropathy. As endoneurial vessel abnormalities can be related to ischemia, we investigated endoneurial vessels in sural nerve biopsies of 18 patients with CIAP. As controls we used sural nerves of 4 patients with diabetes mellitus, 6 patients with hereditary motor and sensory neuropathy type II (HMSN type III) and 10 autopsy cases. Basal lamina area thickness, endothelial cell area, lumen area, and the number of basal laminae, endothelial cells and periendothelial cell nuclei were investigated. Basal lamina area thickness, endoneurial cell area and number of endothelial cell nuclei in CIAP were increased in comparison with HMSN type III, whereas the basal lamina area thickness of patients with CIAP and diabetes mellitus were in the same range. The structure of the basal lamina area in CIAP differed from diabetes mellitus; in diabetes mellitus there was a larger number of lamellae, whereas in CIAP there was an increase in collagen. There was no correlation between basal lamina area thickness and age. In CIAP patients with peripheral vascular disease of the legs, basal lamina area thickness was increased. The relation between basal lamina area thickening and peripheral vascular disease of the legs in CIAP may indicate a role for ischemia in the development of this polyneuropathy.

Adult↗
PubMed2000

Quality of life in patients with axonal polyneuropathy.

"Quality of life" (QOL) measurement reflects the impact of a disease on the daily life of a patient, and this can be used as an outcome measure in clinical trials. QOL measurements are rarely used in patients with neuromuscular disease. The aim of this study was to determine whether QOL is reduced in chronic polyneuropathy, whether there is a relationship between QOL and objective measures of disease severity, and whether measuring QOL is a useful addition to the assessment of severity of polyneuropathy. We measured QOL in 90 patients with chronic axonal polyneuropathy (33 with hereditary motor and sensory neuropathy type II and 57 with chronic idiopathic axonal polyneuropathy) using the RAND 36-item Health Survey questionnaire (RAND-36). We compared the results with the QOL of a reference population, with summed motor and sensory scores, and with the Rankin scale for handicap. Patients had worse scores than the reference population on seven of eight areas of the RAND-36. Patients with both low motor and low sensory scores rated lower in physical and emotional areas than less impaired patients. A low Rankin score was related only to physical domains. We conclude that in patients with chronic axonal polyneuropathy the severity of disease can be assessed with a general QOL instrument, and that this provides additional information, particularly on areas related to emotional and social functioning.

Aged↗