Inability to close eyelids as a feature of palpebral dystonia.
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Blepharospasm↗
Biomedical subjects
G Deuschl
Publications and source records attributed to G Deuschl.
Hand tremor in patients with spasmodic torticollis.
The occurrence of hand tremors in patients with spasmodic torticollis (ST) was investigated in 55 patients by clinical and quantitative measurements. Ten patients had first-order or second-order relatives affected with postural tremor. Although 40% of the patients had a medical history and clinical findings for mild postural and action tremor of the hands, only four had moderate tremor amplitudes. One patient had a severe tremor, including resting tremor, and two had mild voice tremor. A positive correlation was found between hand and head tremor. Patients with hand tremor were younger at the onset of ST than were those without. The mean amplitudes of postural tremor were only slightly higher than for the controls and much smaller than those found in classic essential tremor. The tremor caused only mild disabilities. The tremor frequencies were indistinguishable from physiologic tremor. Further analysis of the tremor records showed evidence for physiologic tremor mechanisms only. We conclude that slightly enhanced postural hand tremors are common in ST but have a low amplitude and are only rarely clinically relevant for ST patients. Although the present data support the notion of an enhanced risk of postural tremor in families of patients affected with ST, none of the criteria allowed the separation of the hand tremor of ST from other postural/action tremors and especially from enhanced physiologic tremor. Thus, the present data do not support the classification of hand tremor in ST as either "dystonic" or essential tremor.
Adolescent↗
[Vasculitis course of neuroborreliosis with thalamic infarct].
A-20-year-old man without vascular risk factors presented with paraesthesia of the left side of the body with acute onset. Cerebral magnetic resonance imaging showed an infarction in the right thalamus. Intra-arterial digital subtraction angiography revealed stenosis of the right thalamic vessels. Recent infection by Borrelia burgdorferi was demonstrated by typical findings in the cerebrospinal fluid: lymphocytic pleocytosis and intrathecal synthesis of borrelial-specific antibodies. The diagnosis of a borrelial-induced vasculitis with secondary thalamic infarction was made from these findings. After antibiotic treatment with cefrtriaxone, the patient was discharged without residual complaints.
Adult↗
[Stereotactic treatment of movement disorders].
Stereotactic surgery for movement disorders is currently undergoing a re-evaluation. A new understanding of the pathophysiology makes the surgical lesion a logical step for the aleviation of both hyperkinetic symptoms such as tremor and hypokinetic symptoms like bradykinesia. Advances in imaging and electrophysiological control render these procedures more accurate and safer. Indications are medically refractory, Parkinsonean tremor, essential tremor, cerebellar tremor, bradykinesia and L-Dopa induced dyskinesis. The standard procedure is ablative surgery, i.e. thalamotomy for tremors and pallidotomy for bradykinesia, dystonia and L-Dopa induced dyskinesias. Deep brain stimulation is a novel alternative for selected patients which is currently evaluated. Neural transplantation of autologus, fetal or genetically manipulated cell suspensions into the striatum for the time being is experimental.
Brain Mapping↗
Two previously unrecognized splicing mutations of GCH1 in Dopa-responsive dystonia: exon skipping and one base insertion.
We describe two previously unrecognized splice site mutations of GCH1 in Dopa responsive dystonia (DRD). Both mutations affect consensus splice acceptor (AG) sites. The first mutation is an A-->G transition at position -2 of intron 1 of GCH1. This mutation results in skipping of exon 2. Fusion of exons 1 and 3 causes a frame shift that generates a premature stop codon. The second mutation is an A-->G transition at position -2 of intron 2. The mutation generates a new splice acceptor site AG one base pair upstream of the wild-type splice site. This, together with a pyrimidine stretch upstream of the new splice site, renders this site functional and generates a transcript with the insertion of one base, i.e. the G of the wild-type splice site. This in turn causes a frame shift including the introduction of a premature stop codon. The two different mutations generate truncated GTP cyclohydrolase polypeptides.
Adolescent↗
Gait analysis during treadmill and overground locomotion in children and adults.
Gait analysis on the treadmill and in the overground condition is used both in scientific approaches for investigating the neuronal organisation and ontogenetic development of locomotion and in a variety of clinical applications. We investigated the differences between overground and treadmill locomotion (at identical gait velocity) in 12 adults and 14 children (6-7 years old). During treadmill locomotion the step frequency increased by 7% in adults and 10% in children compared to overground walking, whereas the stride length and the stance phase of the walking cycle decreased. The swing phase, however, increased significantly by 5% in adults and remained unchanged in children. Balance-related gait parameters such as the step width and foot rotation angles increased during treadmill locomotion. The reduction of the step length was found to be stable after 10 min of treadmill walking in most subjects. With regard to the shifted phases of the walking cycle and the changed balance related gait parameters in the treadmill condition, we assume a different modulation of the central pattern generator in treadmill walking, due to a changed afferent input. Regarding the pronounced differences between overground and treadmill walking in children, it is discussed whether the systems generating and integrating different modulations of locomotion into a stable movement pattern have reached full capacity in 6-7 year old children.
Adult↗
Generalised motor neuron disease as an unusual manifestation of Borrelia burgdorferi infection.
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Adult↗
Linkage studies in alcohol-responsive myoclonic dystonia.
A large German family with "myoclonic dystonia with lightning jerks responsive to alcohol" was identified. Eleven affected pedigree members and six obligate gene carriers from five generations were identified. A description of one branch of this pedigree was published in 1964. Our examination 30 years after the initial report confirms the clinical syndrome of a nonprogressive movement disorder characterized by myoclonic jerks affecting the proximal muscles and the muscles of the trunk, accompanied by mild dystonic features in some affected family members. Segregation analysis favors autosomal dominant inheritance with high, but incomplete, penetrance in males and much lower penetrance in females. Linkage analysis was performed using simple sequence repeat polymorphisms (CA repeats) closely associated with or spanning the chromosomal regions containing 15 candidate genes: the gene for early-onset generalized torsion dystonia, DYT1 (chromosome 9q34); the genes for subunits alpha 2, beta 1, and gamma 1 (chromosome 4p12-4q13); for alpha 1, alpha 6, beta 2, and gamma 2 (chromosome 5q31.1-5q31.3); for alpha 4, alpha 5, beta 3, and gamma 3 (chromosome 15q11-15q13); for rho 1 and rho 2 (chromosome 6q14-6q21) of the gamma-aminobutyric acid A receptor; and for the alpha subunit of the glycine receptor (chromosome 5q31). By a combination of pairwise and multipoint linkage analysis, it could be excluded that any of these candidate gene-bearing chromosomal regions contain the disease gene in this family. We also excluded major portions of three chromosomal regions syntenic with mouse chromosome 3, which carries the murine beta subunit of the glycine receptor.
Adolescent↗
Bilateral myoclonus of the trapezius muscles after distal lesion of an accessory nerve.
Observations of rhythmic or semirhythmic myoclonus due to a peripheral nerve lesion are exceptional. We report on a patient with thorax trauma with multiple bilateral hematomas of the paravertebral musculature. Eight years later he developed rhythmic myoclonus of both trapezius muscles and thoracic pain. Infiltration of a paramedially located scar at the level of D5-6 with a local anesthetic agent led to an intermittent relief of the myoclonus as did anesthetic blockade of the left accessory nerve. Surgical excision of the scar, which contained multiple dystrophic axons on histological examination, cured the patient's symptoms as illustrated in a videotape. This indicates that peripheral afferents contributed to the myoclonus. Ephaptic transmission, ectopic excitation, or misdirected neuronal sprouting secondary to the trauma are possible peripheral mechanisms responsible for the movement disorder. Successful blockade of the left accessory nerve with bilateral relief of the symptoms suggests a secondary, more centrally located mechanism, e.g., in the brain stem, probably driven by an altered afferent input. It is concluded that rhythmic or semirhythmic and focal myoclonus need a careful workup to look for a peripheral cause because such a condition would be accessible for surgical treatment.
Accessory Nerve↗
Symptomatic palatal tremor is associated with signs of cerebellar dysfunction.
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Adult↗
Topography and sources of electromagnetic cerebral responses to electrical and air-puff stimulation of the hand.
SEPs and SEFs after air-puff stimulation of index and little fingers have been studied and compared to the responses following electrical stimulation of the same digits and of the median nerve at the wrist in 5 subjects. The differences in morphology of the evoked signals are described and the generator characteristics are analysed for SEFs by means of a moving dipole model inside a homogeneous sphere. In our measurements the magnetic fields following electrical finger stimulation show a 30 msec component, which was absent following air-puff stimulation. This could not be seen in the electric field activity. The generators of the first component of SEFs after air-puff finger stimulation proved to be deeper (8 mm on average across all subjects and for both fingers) than in the case of electrically evoked SEFs. A similar behaviour was also observed for the second component of SEFs for the 2 stimulus modalities.
Adult↗
Clinical neurophysiology of tremor.
The neurophysiological analysis of tremor has a long tradition. These attempts were directed to understand the mechanisms underlying tremor, on the one hand, and to develop tools to better diagnose the different types of tremor, on the other. Meanwhile, reasonable criteria are available to distinguish between centrally and peripherally mediated tremors. However, no generally accepted means exist to differentiate the different forms of central tremors. Frequency is a useful classifier for cerebellar tremor, rubral tremor, and orthostatic tremor. Although the highest amplitudes are found in Parkinson's disease, this parameter does not well distinguish between the different tremors. Waveform analysis of tremor is a promising tool to separate between the different tremors. Polymyography is pathognomonic for some rare forms of tremor. New approaches to classify tremors are based on positron emission tomography scanning, analysis of ballistic movement, and reflex testing. The means to separate myoclonias from tremors include EEG/EMG correlation techniques, long-latency reflexes, and polymyography. Provided these techniques are applied in the setting of careful clinical analysis of tremor syndromes, they may prove to be helpful in clinical practice.
Cerebellum↗
Adaptation motor learning of arm movements in patients with cerebellar disease.
OBJECTIVE: To design a test of motor learning using arm movements in normal subjects and patients with cerebellar disease. METHODS: Elbow angle was continuously displayed as a cursor (a dot) on a computer screen, and subjects made ballistic elbow flexion and extension movements to try to move the cursor between two targets on the screen. The relation between the arm movement and its visual feedback was changed, and the subjects reacted by adapting the amplitude of their movements in subsequent trials. RESULTS: The consecutive errors showed exponential learning curves during adaptation, which were quantified by their steepness. Ten patients with isolated cerebellar or olivopontocerebellar degeneration had less steep learning curves than normal subjects, indicating a failure of adaptation motor learning in cerebellar disease. The results show that this test may be useful for the analysis of motor learning.
Adaptation, Physiological↗
Symptomatic and essential palatal tremor. 3. Abnormal motor learning.
BACKGROUND: Palatal tremor is divided into symptomatic palatal tremor (SPT) and essential palatal tremor (EPT) on the basis of clinical features. The inferior olive seems to be abnormal in SPT, but not EPT. Because the inferior olive is likely to be involved in several types of motor learning, it is hypothesised that motor learning would be abnormal in patients with SPT, but not those with EPT. METHODS: In six patients with SPT and four patients with EPT, two motor learning paradigms were studied--the classical conditioning of an acoustically elicited eyeblink with electrical supraorbital nerve shock and a test of adaptation of ballistic arm movements to a change of the gain. RESULTS: Classical conditioning was impaired unilaterally or bilaterally in the patients with SPT, depending on whether they had unilateral or bilateral abnormalities of the inferior olives, except for the two least affected patients. All but one of the patients with EPT had normal conditioning. On the adaptation test of arm movements, most of the patients with SPT had impaired learning of the arm contralateral to the hypertrophied inferior olive, regardless of whether the abnormality was unilateral or bilateral, but all patients with EPT had normal results. CONCLUSIONS: In SPT pseudohypertrophy of the inferior olive leads to defective cerebellar function, whereas in EPT the inferior olive functions normally.
Adult↗
Relative absence of psychopathology in benign essential blepharospasm and hemifacial spasm.
We report on the psychopathology and illness-related changes of life in patients with benign essential blepharospasm (BEB) or hemifacial spasm (HFS). Fifty-six patients with BEB and 40 patients with HFS completed the SCL 90R, a screening instrument for psychiatric symptomatology, and the Freiburg Questionnaire for Dystonia (FQD), a questionnaire about psychosocial changes in subjects with movement disorders. In both BEB and HFS patients, the mean scores on all but one subscale of the SCL 90R remained within the double standard deviation of normal. In comparing BEB to HFS patients in illness-related changes of life, BEB patients were more severely disabled in all areas of life examined. Psychological distress in BEB, but not in HFS, correlated with physical disability and in particular with impairment of vision.
Analysis of Variance↗
[Diagnosis, symptoms and follow-up of psychogenic tremor].
A total of 21 patients with psychogenic tremor (PT) were asked to take part in a neurologic and psychosomatic assessment; for 17 patients follow-up information was also recorded. Women out-numbered men in the sample. In the majority of patients the tremor was associated with a variety of other conversion symptoms. The clinical picture of the tremor varied. After beginning exclusively in the extremities, it tended to spread to other parts of the body. Other psychopathology (depression and histrionic personality disorder) existed in almost a third of the sample. Many patients had retired from professional life, or planned to do so in the near future, because of PT. At follow up the initial diagnosis was confirmed in all patients although in some patients additional physical illness had developed during the follow-up period. When neurological and psychiatric/psychosomatic criteria are applied the diagnosis of PT can be established reliably. Studies that have questioned the validity of the conversion concept on the basis of frequent misdiagnoses may indicate problems in the diagnostic procedure rather than an invalid theoretical construct.
Adult↗
Quantitative analysis of tremor time series.
Spectral analysis is applied to tremor time series in basic research and treatment monitoring. The estimation of the spectra from the data is usually done by averaging the squared modulus of the Fourier transform of segments of the data. We discuss drawbacks of this method and propose an alternative procedure to estimate the spectra adaptively based on the data. Thus, the method can be applied to all types of tremor. Applying the theory of spectral estimation, we propose a method to decide whether a spectrum exhibits multiple significant peaks and discuss different approaches to determine the amplitude of the tremor from the spectrum.
Electromyography↗
Effects of local injections of botulinum toxin on electrophysiological parameters in patients with hemifacial spasm: role of synaptic activity and size of motor units.
Ten patients with typical hemifacial spasm were examined before and after treatment with local injections of botulinum toxin type A. After a mean follow-up period of 38 days there was a reduction of the compound muscle action potential (CMAP) of the injected orbicularis oculi muscle of 40%. Ephaptic transmission studied by selective stimulation of facial nerve branches revealed a preserved delayed response of the affected mentalis muscle. However, no delayed response could be recorded in the injected orbicularis oculi muscle in nine patients. The discrepancy between complete loss of the delayed (ephaptic) response and only moderate reduction of the CMAP amplitude of the direct response may be explained by preferential uptake of botulinum toxin type A by hyperactive synapses involved in ephaptic transmission.
Action Potentials↗