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Biomedical subjects

U Dillmann

Publications and source records attributed to U Dillmann.

At least 19 recordsLinked to original sources
PubMed2006

Striatal FP-CIT uptake differs in the subtypes of early Parkinson's disease.

In idiopathic Parkinson's disease (PD), a tremor-dominant type (TDT), an akinetic-rigid type (ART), and a mixed type (MT) are distinguished. We compared cerebral [I-123]FP-CIT SPECT in the PD subtypes (67 patients Hoehn and Yahr stage 1:26 with ART, 19 with MT, 22 with TDT). We measured the ratios putamen/occipital lobe binding and caudate nucleus/occipital lobe binding. Parkinsonian motor symptoms were quantified by UPDRS motor scale. In both putamen and caudate nucleus contralateral to the clinically affected body side TDT patients showed a significantly higher FP-CIT uptake than ART or MT patients (ANOVA; p<0.01). Contralateral putamen and caudate nucleus FP-CIT uptake correlated significantly with severity of rigidity (p<0.01) and hypokinesia (p<0.01) but not with severity of resting or postural tremor (p>0.05). The missing correlation between striatal FP-CIT uptake and tremor suggests, that further systems besides the nigrostriatal dopaminergic system may contribute to generation of parkinsonian tremor.

Adult↗
PubMed2006

Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy.

In this report, we describe the first known patient with a deficiency of sterol carrier protein X (SCPx), a peroxisomal enzyme with thiolase activity, which is required for the breakdown of branched-chain fatty acids. The patient presented with torticollis and dystonic head tremor as well as slight cerebellar signs with intention tremor, nystagmus, hyposmia, and azoospermia. Magnetic resonance imaging showed leukencephalopathy and involvement of the thalamus and pons. Metabolite analyses of plasma revealed an accumulation of the branched-chain fatty acid pristanic acid, and abnormal bile alcohol glucuronides were excreted in urine. In cultured skin fibroblasts, the thiolytic activity of SCPx was deficient, and no SCPx protein could be detected by western blotting. Mutation analysis revealed a homozygous 1-nucleotide insertion, 545_546insA, leading to a frameshift and premature stop codon (I184fsX7).

Adult↗
PubMed2004

Echogenic substantia nigra in patients with orthostatic tremor.

OBJECTIVES: Previous studies suggest that the nigrostriatal dopaminergic transmission is impaired in patients with primary orthostatic tremor. METHODS: We used transcranial sonography (TCS) to examine the morphology of the substantia nigra (SN) in four patients with primary orthostatic tremor (OT). RESULTS: TCS revealed an SN echogenicity in all patients, in three patients unilaterally, in one patient bilaterally. CONCLUSIONS: Our data suggest nigrostriatal dopaminergic deficits in OT patients. The exact impact of these dopaminergic deficits on OT generation is unclear.

Aged↗
PubMed2004

Impact of different stimulation types on orthostatic tremor.

OBJECTIVE: Primary orthostatic tremor (OT) is thought to be generated by a unique supraspinal tremor generator. Here we studied the effect of ipsi- and contralateral stimulation of the central and peripheral nervous system on OT. METHODS: In 7 patients with primary OT, surface EMG was recorded from both tibialis anterior muscles. We performed transcranial magnetic stimulation (TMS) over the vertex, and lumbar magnetic stimulation (LMS) over the lumbar spine. Supramaximal electrical nerve stimuli were applied to the tibial or peroneal nerve at the knee. Proprioceptive input was evoked by rhythmical submaximal stimulation of the tibial, peroneal or sural nerve at the ankle. RESULTS: TMS reset OT significantly in the contralateral as well as the ipsilateral tibialis anterior muscle. The resetting in both muscles was identical. In contrast, peripheral input by means of LMS, supra- or submaximal nerve stimulation had no impact on OT. CONCLUSIONS: Transcranial magnetic stimulation of one cortical leg area resets OT in both legs whereas OT is not modified by any peripheral stimuli applied in this study. SIGNIFICANCE: Our results support the hypothesis of n unique supraspinal OT generator. This generator receives a modulating input from the motor cortex.

Aged↗
PubMed2004

Improvement of apraxia of lid opening by STN-stimulation in a 70-year-old patient with Parkinson's disease. A case report.

We report on a 70-year-old female patient with Parkinson's disease, who showed an improvement of a preexisting apraxia of lid opening on electrical impulses, so-called deep brain stimulation (DBS) delivered to the subthalamic nucleus (STN). This was not described by any other authors before. Up to now, the appearance of apraxia of lid opening was observed only as a side effect after deep brain stimulation in the nucleus subthalamicus. We suggest that these differences may be due to the region of the nucleus subthalamicus that is influenced by the stimulation.

Aged↗
PubMed2002

[Visual evoked potentials in Creutzfeldt-Jakob disease].

Neuropathological studies show frequent and extensive effects on the visual system in Creutzfeldt-Jakob disease (CJD), but deterioration of vision is not reported by all patients. We examined the function of the visual system by means of visual evoked potentials (VEP). We recorded monocular pattern-reversal VEP in six patients with sporadic CJD 1-13 months after first symptoms occurred. Three patients had normal vision, and in a further three, vision was impaired. All patients had pathological VEP with a delayed P100 component (six eyes) or loss of cortical response (five eyes). The patients with visual impairment vs those without were not different concerning VEP findings. The VEP are already pathological in initial CJD stages and point to an early effect on the visual system in CJD, irrespective of clinical visual deficits.

Aged↗
PubMed2001

Cardiovascular autonomic dysregulation and fatigue in multiple sclerosis.

Both cardiovascular disturbances and fatigue are frequent in multiple sclerosis (MS). We investigated their relationship in 84 MS patients (mean age 39.9 +/- 8.9 years) using five established autonomic tests and three different fatigue questionnaires. 64.2% of the patients were categorised as being fatigued Fatigue perception was weakly related to EDSS. Moderate cardiovascular disturbances were found in 16.6% of the patients, and 10.7% had severe cardiovascular autonomic abnormalities. Cardiovascular dysfunction was slightly related to age and to EDSS. In 19.4% of all patients signs of autonomic failure and fatigue were co-existent Using correlation analysis, we found only weakly significant correlation coefficients between some single autonomic test parameters and fatigue scores, which were confounded by age effects. The analysis of dichotomised data revealed slightly significant differences in fatigue experience between patients with and without abnormalities regarding the handgrip test and the Valsalva reaction. Thus, autonomic disturbances might contribute to fatigue symptoms in a MS subgroup, but the overall influence of the autonomic cardiovascular regulation towards fatigue experience seems to be of minor relevance.

Adult↗
PubMed1999

Click evoked myogenic potentials in the differential diagnosis of acute vertigo.

OBJECTIVE: In response to loud clicks, a vestibular evoked potential can be recorded from sternocleidomastoid muscles, called "click evoked myogenic potential" (CEMP). This paper reports on the usefulness of CEMP in the differential diagnosis of acute vertigo of presumed vestibular origin. METHODS: CEMP was examined in 40 patients with acute vertigo of vestibular origin (26 with acute peripheral vestibulopathy, five with Ménière's disease, three with benign paroxysmal positioning vertigo (BPPV), six with psychogenic vertigo) and the results compared with standard caloric reaction (CR). For CEMPs, clicks were delivered unilaterally via a pair of headphones. EMG activity was collected by surface electrodes placed on the sternocleidomastoid belly and averaged. RESULTS: In 29 patients, CR was unilaterally abnormal, pointing to a peripheral vestibular lesion. Seventeen of them had a corresponding loss of CEMPs; the other 12 patients had a normal CEMP. The remaining 11 patients had normal results in both tests. In comparison with CR, CEMP showed a sensitivity of 59% and a specificity of 100% for peripheral vestibular disorders. CONCLUSION: CR is a test of the horizontal canal whereas CEMP is thought to be a sacculus test. Different results of CR and CEMP may be due to this difference between target organs stimulated and may be of prognostic value.

Acoustic Stimulation↗
PubMed1998

[Value of magnetic stimulation and F-wave determination in diagnosis of proximal demyelinating lesions. Follow-up of acute Guillain-Barré polyradiculitis].

A 47-year-old woman developed acute Guillain-Barré-syndrome (GBS) within one day, presenting tetraparesis (muscle strength 1/5 for the upper and 2/5 for the lower extremities) and respiratory failure. On day 5 a cardiac pacemaker was necessary due to severe bradycardia. Electrophysiological studies were performed on days 2, 3, 5, 6, 8, 12, 15, 30 and 40. Our initial findings revealed normal motor conduction velocities and normal spinal motor evoked potentials. However, neither F-waves nor cortical motor evoked potentials could be registered from the upper or lower extremities. The motor conduction of the median nerve remained normal until day 6. The compound motor action potential declined thereafter and disappeared by day 12, indicating axonal degeneration. No axonal degeneration occurred in the lower extremities. The cervical or lumbar magnetic stimulation excites nerve roots at the level of the foramen intervertebrale. Thus, our findings suggest a conduction block between the foramen intervertebrale and the point where the nerve roots enter the spinal cord.

Afferent Pathways↗
PubMed1998

Evoked isometric muscle contractions in myopathies: analysis of pathophysiological properties by different stimulus patterns.

Isometric twitches of the adductor pollicis muscle following ulnar nerve stimulation were investigated in healthy subjects (n = 35) and patients with different types of myopathies (myotonic dystrophy, n = 19; limb girdle muscular dystrophy, n = 10; metabolic myopathy, n = 6). The changes within the rising part (i.e. within the contraction time, CT) of the isometric twitches after single stimuli were similar in myotonic and limb girdle dystrophies: the first part of CT, which lasts until the maximal contraction rate is achieved, was shortened, whereas the following second part of CT, which lasts until the maximal twitch force is achieved, was normal. In metabolic myopathies the first part was normal, whereas the second part was prolonged. The relaxation was prolonged in all types of myopathies, particularly in metabolic myopathies. Using double stimuli with short interstimulus intervals (ISI), the absolute refractory period of the muscle contraction (healthy subjects: 1.35 +/- 0.16 ms) was shortened in patients with myotonic dystrophy (1.02 +/- 0.11 ms). In the other types of myopathies, the absolute refractory period was only shortened provided that the single twitch force was clearly reduced. A similar dependence on a reduced single twitch force was also found with regard to the maximal force development with two stimuli and the corresponding ISI: the force contributed by a second stimulus was pathologically enhanced if the single twitch force was clearly reduced. The ISI related to the maximal force with two stimuli was shifted towards very short values (healthy subjects: 10.5 ms, myotonic dystrophy: 4.6 ms, limb girdle dystrophies: 5.0 ms). Our results can be attributed to altered kinetics of calcium release and uptake by the sarcoplasmic reticulum in myopathies.

Adolescent↗
PubMed1997

Hereditary motor and sensory neuropathy with spastic paraplegia and optic atrophy: report on a family.

We describe two siblings affected by a motor and sensory neuropathy starting in childhood. Already in infancy, a spastic gait disturbance had become obvious, leading later to multiple surgical interventions. In adolescence, progressive loss of vision developed. At the time of our examination, both siblings showed severe weakness and atrophy of the distal muscles of legs and arms. Tendon jerks were brisk in proximal muscles; in the lower extremities, muscle tone was increased. Visual acuity was severely decreased. Nerve conduction studies revealed an axonal degeneration. This finding was confirmed by evaluation of a sural biopsy specimen in one patient, showing only few remaining myelinated fibres without signs of demyelination. This combination of hereditary motor and sensory neuropathy with spastic paraplegia and optic atrophy shows features of both hereditary motor and sensory neuropathy V and VI according to the classification of Dyck, indicating that these subtypes may not represent distinct entities.

Aged↗
PubMed1996

Isometric muscle contractions after double pulse stimulation. comparison of healthy subjects and patients with myotonic dystrophy.

Isometric contractions of the adductor pollicis muscle were studied in healthy subjects and patients with myotonic dystrophy after single and double stimuli of the ulnar nerve using a wide range of interstimulus intervals (ISI, 0.4-180 ms). In healthy subjects, the force contributed by a second stimulus was greater than the single twitch force being maximal (mean + 140%) at 12-ms ISI. In myotonic dystrophy, the force contributed by the second stimulus was (relative to a reduced twitch amplitude) increased (mean + 204%) with a maximum at 4.8-ms ISI. An abnormal increase of force was only recorded if the single twitch force was clearly reduced. The absolute refractory period of muscle contraction (normal range 1.2-1.6 ms, mean 1.35 ms) was shortened in all patients (mean 1.01 ms) except one (1.2 ms). The ISI showing the maximal force were related to those showing the maximal prolongation of the contraction time in healthy subjects (r = 0.71) but not in patients. The rate of force development contributed by a second stimulus was slower than expected from the summation of two single twitches with short stimulus intervals (3-40 ms) a phenomenon called early depression. In patients, the early depression was reduced or abolished within this range of ISI as has been found in dystrophic mouse muscles. The optimal ISI in patients was shifted towards very short times and together with the other disturbances it is suggested that activation of diseased muscle by motoneurons may be less effective, being an additional factor leading to weakness in myotonic dystrophy.

Adult↗
PubMed1991

[Polyneuropathy in Duhring dermatitis herpetiformis].

Polyneuropathies in patients with dermatitis herpetiformis (Duhring's disease) can be due to dapsone therapy as well as due to an associated enteropathy. Dapsone causes an axonal, purely motor neuropathy, whereas the neuropathy due to an enteropathy is mainly sensory in type. The characteristics of both neuropathies are described considering the clinical and electrophysiological findings in a patient with enteropathic neuropathy and improvement during continuous dapsone therapy.

Biopsy↗
PubMed1989

End-plate dysfunction in acute organophosphate intoxication.

Acute organophosphate intoxication resulting from suicide attempts in 14 patients produced a series of electrophysiologic abnormalities that correlated with the clinical course. Spontaneous repetitive firing of single evoked compound muscle action potentials (CMAP) was the earliest and most sensitive indicator of the acetylcholinesterase inhibition. A decrement of evoked CMAP following repetitive nerve stimulation was the most severe abnormality. At the height of the intoxication no CMAP was evoked after the first few stimuli. The decrement-increment phenomenon occurred only at milder stages of intoxication and its features are characteristic of acetylcholinesterase inhibition. These electrophysiologic features proved to be the most useful for determining initial severity and clinical course of the acute organophosphate intoxication and differentiated this syndrome from those of myasthenia gravis, Eaton-Lambert syndrome, and botulism.

Adult↗
PubMed1989

[The decrement-increment phenomenon in disorders of neuromuscular transmission by inhibition of acetylcholinesterase].

Repetitive stimulation of the median nerve elicited a so far unknown course of the muscle action potentials in four patients with organophosphate intoxications. The amplitude of the initial muscle action potential decreased with the second stimulus and gradually increased to normal values by subsequent stimuli. With the second stimulus a loss of the repetitive muscle action potentials occurred. The Decrement-increment phenomenon was seen in early and/or late stages of severe intoxications when fasciculations were prominent. We suppose that the repetitive muscle action potential following the first stimulus results from backfiring. The second orthodromic nerve action potential collides with this antidromic activity leading to a partial extinction. Loss of backfiring with the second stimulus abolishes the phenomenon of collision and enables a recovery of the muscle action potential amplitudes.

Cholinesterase Inhibitors↗