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Biomedical subjects

K Reiners

Publications and source records attributed to K Reiners.

At least 19 recordsLinked to original sources
PubMed2001

Cervical dystonia in monozygotic twins: case report and review of the literature.

We report on monozygotic male twins of German origin with early onset cervical dystonia. No other family members were affected. Although identical in age of onset and clinical course, there were phenotypic variations. While the second-born, more affected twin suffered from a symmetric retrocollis, the twin brother mainly presented with a spasmodic torticollis to the left. Dystonia remained focal in both siblings. A DYT1 gene deletion was excluded. Including our patients, hitherto only four twin pairs with idiopathic dystonia have been reported. Although dystonia in twins can be remarkably uniform in some cases, major differences in terms of disease progression, remissions, and disability may be found. These observations underline the role of inheritance in the pathogenesis of idiopathic dystonia but also indicate that some other factors contribute to the clinical presentation of dystonia.

Adult↗
PubMed2001

[Cardiac arrhythmias in Guillain-Barre syndrome. An overview of the diagnosis of a rare but potentially life-threatening complication].

Autonomic neuropathy is an important complication of Guillain-Barré syndrome (GBS). In particular, over-reactivity of vagal function may lead to serious cardiac disturbances ranging from bradycardia to asystole. Early recognition of these events is essential for appropriate intervention such as the insertion of a cardiac pacemaker. Recent studies indicate that serious bradyarrhythmias could be observed in severely and even less severely affected patients who were still able to walk more than 5 meters. Conventional measures such as the presence of tachycardia, heart rate and blood pressure fluctuations, or short-term heart rate variability and standardized autonomic function tests were not useful in predicting serious bradyarrhythmias. However, abnormal sensitivity to eyeball pressure testing correctly identified two of three patients who needed cardiac pacing or cardiopulmonary resuscitation due to heart arrest; eight of ten patients without bradyarrhythmic events showed normal responses. New methods such as the 24-hour heart rate power spectrum may yield sensitive and specific markers for assessing the risk of impending and potentially life-threatening arrhythmias in patients with GBS.

Autonomic Nervous System Diseases↗
PubMed2001

[Myotonic dystrophy (DM/Curschmann-Steinert disease) and proximal myotonic myopathy (PROMM/Ricker syndrome). Myotonic muscle diseases with multisystemic manifestations].

Myotonic disorders are characterised by slowed muscle relaxation and myotonic discharges in the electromyogram. "Pure" myotonic disorders affect only muscle and can be separated into ion channel disorders affecting either the chloride channel (myotonia congenita Thomsen or myotonia congenita Becker) or those affecting the sodium channel (paramyotonia, hyperkalemic periodic paralysis, and myotonia fluctuans). The genetic defects in these disorders are point mutations or deletions within the respective channel genes. A second group of myotonias consists of multisystem disorders with muscle weakness and atrophy plus extramuscular symptoms and signs including cardiac arrhythmias, cataracts, hypogonadism, and pain. Classic myotonic dystrophy (Steinert's disease or DM 1), and proximal myotonic myopathy (PROMM or Ricker's syndrome) are the major syndromes. PROMM is characterised by predominantly proximal muscle weakness and myalgias. Similarly to DM 1, anticipation also occurs in PROMM, but the disease course is usually milder. Steinert's disease belongs to the group of trinucleotide repeat-associated disorders. The DM 1 mutation is an unstable CTG trinucleotide repeat expansion on chromosome 19q13.3 which is diagnostic for the disease. A number of families with PROMM have been linked to a gene locus on chromosome 3q, but the mutation is still unknown. Therefore, direct molecular genetic testing for PROMM is not yet possible.

Biopsy↗
PubMed2001

Morphine in tardive and idiopathic dystonia (short communication).

Opioids have been shown to improve L-Dopa induced dyskinesias in patients with Parkinson's disease. In this pilot trial of five patients with tardive and four patients with idiopathic dystonia we tested the effect of morphinsulfate in a retarded form with a dosage of 20-60 mg per day. A substantial improvement of dystonic movements could be observed in four patients with tardive and one patient with idiopathic dystonia. The effect was only transient in tardive dystonia while pain relief mediated by morphine overlasted the effect on involuntary movements.

Adult↗
PubMed2001

Mycophenolate mofetil in the therapy of severe myasthenia gravis.

Mycophenolate mofetil is a novel immunosuppressive drug already established in transplantation medicine. Recently, results of three open clinical trials on mycophenolate mofetil in myasthenia gravis have been reported. Mycophenolate mofetil in a dose of 1.0-2.0 g/day was given in 2 patients with severe refractory myasthenia gravis and in 1 patient with myasthenia gravis-polymyositis syndrome. Apart from dose-dependent reversible hemolytic anemia in 1 patient, no severe side effects occurred. Considerable improvement of myasthenic symptoms was seen in all patients within 3-6 months after the initiation of this therapy. Mycophenolate mofetil may be considered as a useful alternative in the treatment of severe myasthenia gravis when standard therapeutic regimens fail. It is usually well tolerated and its application is simple.

Aged↗
PubMed2001

Autonomic dysfunction in multiple sclerosis is related to disease activity and progression of disability.

BACKGROUND: Autonomic dysfunction is frequently observed in patients with multiple sclerosis (MS) but the evolution over time and the relationship to clinical characteristics are not yet established. OBJECTIVES: We investigated the correlation of disease activity and progression of disability with composite scores of cardiovascular autonomic dysfunction and serum levels of catecholamines in a cross-sectional study of patients with clinically active and clinically stable MS. In a longitudinal study of clinically active MS patients, we performed cardiovascular reflex tests for up to 2 years. METHODS: Twenty-six patients with clinically active relapsing-remitting MS, age 33.0 +/- 7.3 years, and nine patients with clinically stable MS, age 41.3 +/- 10.9 were studied. Twenty-four healthy volunteers served as controls. Standard autonomic tests were repeated at 3, 6, 12, 18 and 24 months in 18 of the 26 active patients participating in a placebo-controlled trial with interferon-beta-1a. Parasympathetic dysfunction was assessed by heart rate response to the Valsalva manoeuvre, deep breathing and active change of posture, while sympathetic dysfunction was analysed by blood pressure response to active change of posture and to sustained handgrip, and by measuring levels of norepinephrine and epinephrine in serum obtained in the supine position. RESULTS: In the cross-sectional study, the number of patients with at least one abnormal sympathetic test was higher in the 'active' patient group (39%) than in healthy controls (8%, P< 0.02) or 'stable' patients (0%, P< 0.04), while no difference was seen in the parasympathetic score. Median catecholamine levels were significantly lower in 'active' MS patients than in those with stable disease (norepinephrine, 204 ng/l (interquartile range 158-310 ng/l) vs 363 ng/l (269-507 ng/l), P<0.02 and epinephrine, 23 ng/l (16-28 ng/l) vs 32 ng/l (24-107 ng/l), P<0.04). In the subgroup of patients studied longitudinally, parasympathetic but not sympathetic dysfunction increased slightly during the follow-up period, with a significant correlation to the increase in clinical disability (r=0.7, P<0.002). No difference was seen for any of the autonomic scores between patients treated with interferon-beta (n=12) and those receiving placebo (n=6). During acute exacerbations, only parasympathetic dysfunction tended to increase in parallel with a deterioration in the EDSS. CONCLUSIONS: Parasympathetic dysfunction was closely related to the progression of disability in patients with MS. In contrast, sympathetic dysfunction was associated to the clinical activity of MS. This is in line with previous observations suggesting that the autonomic nervous system may be intimately linked with the disordered immune regulation in MS.

Adjuvants, Immunologic↗
PubMed2001

Reduction of Menkes mRNA and copper in leukocytes of patients with primary adult-onset dystonia.

Studies on postmortem tissue of patients with primary adult-onset dystonia revealed a significant increase in copper levels and a reduction of copper transporting Menkes protein of the lentiform nuclei. Here we demonstrate that patients with idiopathic adult-onset cervical dystonia (n = 14) have reduced Menkes mRNA copies and lower copper levels in leukocytes compared to controls (n = 17; U test, p < 0.05). Changes were less distinct in patients with blepharospasm. Therefore, disturbances of copper metabolism in focal dystonia may not be restricted to the basal ganglia.

Adenosine Triphosphatases↗
PubMed2000

Proximal myotonic myopathy: evidence for anticipation in families with linkage to chromosome 3q.

OBJECTIVE: To investigate anticipation in proximal myotonic myopathy (PROMM). BACKGROUND: PROMM is a recently described autosomal dominantly inherited disorder similar to but distinct from myotonic dystrophy (DM). DM belongs to the group of inherited disorders with anticipation caused by an unstable trinucleotide repeat expansion. In PROMM, no mutation has been identified, although PROMM has recently been mapped to a gene locus on chromosome 3q. METHODS: We investigated 10 German families with the PROMM phenotype and linkage to chromosome 3q. We based our analysis of anticipation on the age of disease onset. Anticipation was assumed if the offspring had first symptoms earlier in life than his or her affected parent. For statistical analysis Independence Estimating Equations (IEE) and a Monte-Carlo bootstrap were used. RESULTS: In 27 affected living parent-offspring pairs from these 10 families, the mean difference of disease onset was 18.8 years with either statistical analysis (p < 10-14 and p < 10-15). The mean disease onset interval in years was greater in father-offspring as compared to the mother-offspring pairs (p < 0.05; IEE). CONCLUSION: Our findings suggest the occurrence of anticipation in parent-offspring pairs from families with the PROMM phenotype and linkage to chromosome 3q. The different disease onset intervals in mother-offspring and father-offspring pairs could indicate a mild parent-of-origin effect. These observations are compatible with the suggestion that PROMM, like DM, may be a trinucleotide repeat associated disorder. In contrast to DM, anticipation in PROMM is milder, a congenital form does not seem to occur, and fertility does not appear to be affected.

Adolescent↗
PubMed2000

Detection of serious bradyarrhythmias in Guillain-Barré syndrome: sensitivity and specificity of the 24-hour heart rate power spectrum.

This study was undertaken to determine the nature of bradyarrhythmic events and their relationship to motor disability, disease stages and tachycardia in patients with Guillain-Barré syndrome, and to investigate the potential of the 24-hour heart rate power spectrum (HRPS) for the detection of serious bradyarrhythmias in individual patients. Thirty-five consecutive patients with Guillain-Barré syndrome who were admitted to the authors' intensive care unit were studied. In all patients, the heart rate was continuously recorded during the early stages of the disease, averaged at 1-minute intervals, and stored for 1 to 87 days. The HRPS (n = 556, 16 +/- 19 per patient; median, 9) was calculated by Fourier analysis of 24-hour recordings and logarithmically transformed. The slope was estimated by regression analysis of log (power) on log (frequency) between 10(-4) and 4 x 10(-3) Hz, showing an inverse power law behavior in all 556 HRPSs. Eleven patients (31%) had serious bradyarrhythmias. Most of these patients were not dependent on mechanical ventilation, with 3 of 11 patients (27%) still being able to walk more than 5 meters. Sustained tachycardia occurred less frequently in patients with than in those without bradyarrhythmias. The combination of the slope of the power law regression line and the log (power) at 10(-4) Hz (log P4) of the 24-hour HRPS correctly identified 8 of 11 bradyarrhythmic patients (sensitivity 73%) and 16 of 22 patients with Guillain-Barré syndrome who did not have bradyarrhythmias (specificity 73%). All bradyarrhythmic patients could be detected in the subgroup of patients without sustained tachycardia. The 24-hour HRPS is a powerful predictor of serious autonomic complications in patients with Guillain-Barré syndrome and may help to identify patients at risk of potentially life-threatening arrhythmias.

Adolescent↗
PubMed2000

Technical advances in ultrasound and MR imaging of carpal tunnel syndrome.

The aim of this study was to compare the latest ultrasound-array technology to a conventional "high-resolution" transducer, modified MRI technique, and nerve conduction studies (NCS), in the diagnosis of carpal tunnel syndrome (CTS). In 19 normal wrists and 15 wrists with CTS, US with two different transducers was performed: a conventional linear-array transducer (LA) and a newly developed Multi-D linear-array transducer (MDA) were used. The US images were evaluated determining the swelling and the flattening ratios of the median nerve and correlated to respective findings in MRI (1.5 T) and to NCS. The NCS confirmed CTS in all 15 wrists. Measures of median nerve compression (swelling and flattening ratios) were significantly different in patients with CTS and controls (p < 0.01) with both types of US transducers and MRI. The MDA yielded higher correlation to MRI than the LA. Using critical values of 1.3 for the swelling and 3.4 for the flattening ratio, MRI, and US with the MDA yielded a sensitivity of 100% each. Modern imaging modalities allow for an exact diagnosis of CTS even in cases with only slight median nerve pathology.

Adult↗
PubMed2000

Sensory tricks in cervical dystonia: perceptual dysbalance of parietal cortex modulates frontal motor programming.

Cervical dystonia is a disabling basal ganglia disorder characterized by an involuntary head deviation to one side. A typical but also mysterious feature is the impressive improvement of muscle spasms and involuntary head posture by application of a sensory facial stimulus (sensory trick). Here, we report the effect of a sensory trick on cortical activation patterns in 7 patients with cervical dystonia by using H2(15)O positron emission tomography. The application of the sensory trick stimulus, resulting in a near-neutral head position, led to an increased activation mainly of the superior and inferior parietal lobule (ipsilateral to the original head turn) and bilateral occipital cortex and to a decreased activity of the supplementary motor area and the primary sensorimotor cortex (contralateral to the head turn). We propose that a perceptual dysbalance induced by a sensory trick maneuver leads to a relative displacement of the egocentric midvertical reference to the opposite side and a decrease in motor cortex activity. This modulation of motor programming gives novel insights into the mechanisms involved in sensorimotor integration in movement disorders.

Adult↗
PubMed2000

Changes of copper-transporting proteins and ceruloplasmin in the lentiform nuclei in primary adult-onset dystonia.

A recent study reported an increase of brain tissue copper content in the lentiform nuclei of patients with primary adult-onset dystonia. In this study we analyze copper-metabolizing proteins (Menkes protein, Wilson protein, ceruloplasmin) by Western blot analysis in frozen brain tissue (lentiform nuclei) of 3 patients with primary dystonia. Menkes protein was reduced in all patients, while Wilson protein and ceruloplasmin were increased in the 2 patients with focal dystonia and reduced in the patient with generalized dystonia. Our data provides further evidence for a disturbance of copper metabolism in primary dystonia.

Adenosine Triphosphatases↗
PubMed1999

Vulnerability of the nigrostriatal system as detected by transcranial ultrasound.

OBJECTIVE: To assess the incidence of a hyperechogenic substantia nigra (SN) by transcranial sonography (TCS) in healthy people and to evaluate whether an enlarged hyperechogenic SN area is associated with functional impairment of the nigrostriatal system. BACKGROUND AND METHODS: Until now, preclinical impairment of the nigrostriatal system could be identified only by functional neuroimaging techniques such as PET in selected groups of patients. TCS is a new, noninvasive ultrasound technique that has demonstrated an increased echogenicity of the SN in patients with PD, whereas in most healthy individuals, the SN is either barely detectable or undetectable by TCS. RESULTS: Of 330 healthy volunteers, 8.6% exhibited an increased echogenicity of the SN. From these, 10 clinically healthy individuals with distinct unilateral or bilateral hyperechogenic signals in the SN region (SN area above 0.25 cm2) underwent comprehensive motor testing, neuropsychological assessment, MRI, and [18F]-dopa PET examination. With regard to motor functions, these individuals did not differ from 10 age- and sex-matched controls with a low echogenic SN and an area of echogenic signals below 0.2 cm2. Enlargement of hyperechogenic areas in the 10 healthy individuals was associated with a marked decrease in the accumulation of [15F]-dopa in the caudate nucleus and putamen. CONCLUSIONS: Substantia nigra hyperechogenicity appears to indicate a functional impairment of the nigrostriatal system. Transcranial sonography may be a suitable method of identifying persons at risk of nigrostriatal alterations, making possible the introduction of early neuroprotective therapy.

Adolescent↗
PubMed1999

Twenty-four-hour heart rate power spectrum for evaluation of autonomic dysfunction in Guillain-Barré syndrome.

Long-term fluctuations of the heart rate have an important prognostic impact after myocardial infarction, in patients with chronic heart failure and even in elderly subjects. Autonomic dysfunction is a common complication in patients with Guillain-Barré syndrome, and particularly vagally-mediated bradyarrhythmias require early recognition for immediate initiation of appropriate preventive therapy. This study aimed at investigating (1) whether the 24-h heart rate power spectrum (HRPS) could be used as a measure of autonomic dysfunction also in patients with GBS, and (2) whether the slope of the regression line of power on frequency of the 24-h HRPS could indicate potentially fatal bradyarrhythmias in these patients. In 13 patients with GBS, the heart rate was continuously recorded in the intensive care unit during the early stages of the disease, averaged at 1-min intervals and stored for 4 to 82 days. The HRPS (n = 76, 2 to 14 per patient, median 5) was calculated by Fourier analysis of 24-h recordings and logarithmically transformed. The slope was estimated by regression analysis of log(power) on log(frequency) between 10(-4) and 4x10(-3) Hz demonstrating an inverse power law behaviour in all 76 HRPS. The slope of the regression line ranged from -0.66 to -2.18, and was significantly steeper in patients with tachycardia (median -1.51, interquartile range -1.35 to -1.71) than in those with vagal overreactivity (median -1.14. -1.02 to -1.23) who are suspected to be at risk for fatal arrhythmias. Correlation analysis suggested that the slope was moderately associated with the spectral components of 5-min epochs, but not significantly to standard tests of autonomic hypofunction. Patients with and without vagal overreactivity were better discriminated by the 24-h HRPS than by conventional measures of autonomic function. Therefore, the 24-h HRPS may be a useful adjunct to autonomic nervous system testing, and might be a promising tool to predict serious bradyarrhythmias in patients with GBS.

Adult↗
PubMed1999

Increased tissue copper and manganese content in the lentiform nucleus in primary adult-onset dystonia.

We analyzed trace metals in frozen brain tissue of several subcortical nuclei from 3 patients with primary adult-onset dystonia and 10 control subjects. Copper levels were significantly increased in the globus pallidus and putamen of patients with dystonia A slight increase in manganese content was identified in the putamen and thalamus of patients with dystonia. Our findings show for the first time an accumulation of trace metals in the lentiform nuclei in patients with primary dystonia, which may play a pathogenetic role in primary dystonia and may explain recent ultrasound and magnetic resonance imaging findings.

Age of Onset↗
PubMed1999

Cardiovascular autonomic dysfunction in multiple sclerosis: correlation with orthostatic intolerance.

Autonomic dysfunction is frequently observed in patients with multiple sclerosis (MS), but clinical studies disagree on the frequency and type of abnormalities in autonomic function tests. Orthostatic dizziness (OD) has been reported in up to 49% of patients, but the pathophysiological mechanisms are poorly understood. This study investigated cardiovascular reflex tests and their association with OD in patients with MS in order to examine the hypothesis that the sympathetic nervous system is specifically involved in these patients. Forty patients with clinically active relapsing-remitting (n = 27) and secondary progressive MS (n = 13), aged 35.0+/-8.5 years, were studied by parasympathetic (heart rate responses to the Valsalva maneuver, deep breathing, and active change in posture) and sympathetic function tests (blood pressure responses to active change in posture and sustained handgrip), and by spectral analysis of heart rate variability during rest and during standing. Results were compared to those obtained in 24 healthy volunteers, aged 29.4+/-7.2 years. A standardized questionnaire was used to evaluate symptoms of orthostatic intolerance. Abnormal responses on at least one cardiovascular reflex test were observed in 40% of MS patients, compared to 17% of the control group, with a statistically significant involvement of the sympathetic vasomotor system. Orthostatic intolerance was reported in 50% of patients (controls: 14%, P<0.006). Subgroup comparison of patients with and without OD suggests that orthostatic intolerance results from impaired sympathetic vasoconstriction. These results provide further evidence that the sympathetic nervous system is involved in patients with MS.

Adult↗
PubMed1999

Depression in Parkinson's disease: brainstem midline alteration on transcranial sonography and magnetic resonance imaging.

Recent studies using transcranial sonography (TCS) have provided evidence of alterations in the mesencephalic midline structures in patients with unipolar depression and depression in Parkinson's disease (PD), suggesting an involvement of the basal limbic system in primary and secondary mood disorders. This study tested the hypothesis of brainstem midline abnormality in depression and investigated 31 PD patients by magnetic resonance imaging (MRI) and TCS. Signal intensity of the pontine and mesencephalic brainstem midline was rated on T2-weighted images and measured by relaxometry. In addition, two blinded investigators assessed the echogenicity of the brainstem midline by TCS. The severity of motor symptoms and depression were graded independently using standard research scales. Rating of signal intensity and T2 relaxometry of the pontomesencephalic midline structures revealed significant difference between depressed and nondepressed PD patients (P < 0.05). This corresponded to a significant reduction in mesencephalic midline echogenicity of depressed PD patients on TCS images. No correlation was found between raphe signal intensity, T2 relaxation times, or TCS echogenicity and the severity of motor symptoms or depression. This study is the first to show changes in signal intensity and T2 relaxation time of the pontomesencephalic midline structures on MRI in depressed PD patients confirming previous TCS findings. As these midline structures comprise fiber tracts and nuclei of the basal limbic system, the findings may support the hypothesis of an alteration in the basal limbic system in mood disorders.

Aged↗