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Biomedical subjects

M Tegenthoff

Publications and source records attributed to M Tegenthoff.

At least 37 records · Page 2Linked to original sources
PubMed1999

['Frontal lobe syndrome' caused by severe head trauma or cerebrovascular diseases].

The term "frontal lobe syndrome" comprises a variety of different clinical syndromes produced by focal lesions involving the prefrontal cortex. However, similar syndromes can be observed after lesions involving subcortical structures connected with the prefrontal cortex in neuronal networks. With respect to the different clinical pictures and underlying brain lesions, prefrontal lobe dysfunction may be divided into a disorganized type, caused by lesion of the dorsolateral prefrontal lobe and its connections, a disinhibited type that can be observed following lesions of the orbitofrontal cortex, and an apathetic type following lesions affecting the functional balance between the cingulum and the supplementary motor area. As intracerebral lesions are rarely limited to the brain regions described, in the majority of patients various degrees of behavioural dysfunction can be observed. The case reports of four patients illustrating the three major prefrontal syndromes following severe head injury (n = 2) or cerebrovascular disease (n = 2) are presented and diagnostic implications as well as possible treatment strategies are discussed.

Aged↗
PubMed1999

Assessment of postexcitatory inhibition in patients with focal dystonia.

The aim of our present study was to detect whether a generalized disturbance of intracortical inhibitory mechanisms as assessed by transcranial magnetic stimulation (TMS) can be observed in a movement disorder with localized clinical expression, that is, in focal cervical dystonia. We measured motor threshold intensity, central motor conduction time and the duration of postexcitatory inhibition evoked by single and paired stimuli TMS from a small hand muscle in 20 patients with idiopathic cervical dystonia, and 21 healthy volunteers. A significant difference could not be found in any of the neurophysiological parameters between patients and controls. These findings are unlike the observations made in Parkinson's disease and Huntington's disease, where significant changes of postexcitatory inhibition after TMS can be observed. This suggests a lack of widespread change in activity of underlying cortical inhibitory mechanisms, as seen in other diseases of the extrapyramidal system with more generalized clinical involvement.

Adult↗
PubMed1998

Mutation analysis in myophosphorylase deficiency (McArdle's disease).

Inherited deficiency of myophosphorylase leads to glycogen storage disease type V (McArdle's disease). We performed mutation analysis in 9 patients of eight unrelated families from Germany with typical clinical presentation of myophosphorylase deficiency. Beside previously described mutations we identified four novel mutations in the myophosphorylase gene. Four patients were homozygous for a nonsense mutation Arg49Stop that has been reported to be the most common mutation in white patients. Two affected siblings were compound heterozygotes for a novel missense mutation Gly685Arg and the nonsense mutation Arg49Stop. One patient carried a novel nonsense mutation Arg575Stop and a previously identified missense mutation Gly204Ser. In another patient, we identified a novel missense mutation Gln665Glu and a single-base deletion delA in Lys753. One patient of Turkish ancestry carried a newly identified homozygous A-to-G transition (ATG to GTG) abolishing the translation initiation codon of the myophosphorylase gene. These results suggest that Arg49Stop also is the most common genetic error associated with myophosphorylase deficiency in the German population. Our findings further demonstrate molecular heterogeneity of myophosphorylase deficiency among the clinically homogeneous patients we studied.

Adolescent↗
PubMed1998

[Adrenoleukodystrophy and adrenomyeloneuropathy. Clinical biochemical and molecular genetic findings].

Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disease affecting 1 in 20,000 males either as cerebral ALD in childhood or as adrenomyeloneuropathy (AMN) in adulthood. Recently, the ALD gene has been identified by positional cloning. We report three males patients with AMN and a fourth patient with juvenile ALD. Biochemical studies showed elevated plasma concentration of saturated very-long-chain fatty acids. Genomic DNA of the patients was analysed for possible sequence variations in the ALD gene by PCR amplification and single strand conformation polymorphism analysis. Three missense mutations (Ser515Phe, Glu267Lys and Arg401Trp) and a 9-bp deletion were detected predicting, respectively, the replacement and absence of amino acids in the deduced amino acid sequence of the ALD protein. In the patients' families, detection of the respective mutations allows the identification of carriers of ALD/AMN. Mutational screening in ALD families is of practical importance in improving genetic counseling.

ATP Binding Cassette Transporter, Subfamily D, Mem↗
PubMed1998

Impaired aerobic glycolysis in muscle phosphofructokinase deficiency results in biphasic post-exercise phosphocreatine recovery in 31P magnetic resonance spectroscopy.

Using 31P magnetic resonance spectroscopy, energy metabolism in calf muscles of two patients with biochemically and genetically proven muscular phosphofructokinase deficiency, and an asymptomatic heterozygote was monitored during isometric foot plantarflexion performed under aerobic and anaerobic conditions and in the aerobic recovery phases. In the heterozygote only a moderate alteration from normal was found in terms of an elevated ATP demand during exercise. In the homozygote, hexose phosphates, indicated as phosphomonoesters, increased dramatically during contraction. Phosphomonoester accumulation resulted in consumption of free inorganic phosphate (P(i)). During ischemic exercise the absence of glycolytic ATP formation resulted in a linear time course of phosphocreatine breakdown and a moderate alkalinization. During the recovery, phosphocreatine resynthesis showed a biphasic time course, indicating that mitochondrial function itself was not directly affected. At first glance, the early depletion of P(i) below initial resting levels and the rate of phosphate splitting from sugar phosphates seemed to become the limiting factor for the rate of the oxidative phosphorylation and creatine kinase reaction. However, the actual concentrations of P(i) and ADP estimated at the onset of delay were too high to exclusively explain the dramatic delay in PCr resynthesis. For this reason, a reduced turnover of the citric acid cycle was assumed, which was caused by the complete absence of glycolysis in PFK deficiency patients. Furthermore, results from PFK deficiency patients were compared with previous findings from myophosphorylase deficiency patients in the literature.

Adenosine Triphosphate↗
PubMed1998

Anorectal functions in patients with spinal cord injury.

We wished to establish anorectal functions in patients with spinal cord lesions, related to the level of lesion and its completeness. We also wished to determine the value of neurophysiological tests for completeness of transsections in comparison with manometry and visceral sensory testing. In 32 patients (31.5 +/- 14.1 years, 25 males) with spinal trauma, completeness of transsection was assessed clinically. In 16 of these patients (30 +/- 15.6 years, nine males), a neurological work-up included recording of somatosensory evoked potentials (SEP) and motor evoked potentials (MEP) from the pudendal nerve within the first week after trauma. Also, anal sphincter EMG and pudendal nerve terminal motor latency (PNTML) were assessed. All patients also underwent conventional anorectal manometry and visceral sensory testing. Of all 32 patients, 15 were judged as 'complete' based on their clinical signs. Of those 16 tested neurologically, seven were labelled 'complete' since no MEP or SEP were detectable; one had pudendal SEP and MEP present, while SEP were present but delayed (47.0 +/- 8.8 msec) in the remaining patients. In four of these patients, also MEP were recorded (27.9 +/- 5.2 msec) and normal. PNTML was present in 12/16 patients independent of the completeness of lesion, and was rated normal in nine and delayed in three patients. EMG was normal in five, and pathological in 11 cases. In 5/15 cases of those judged as 'complete' (in 3/7 evaluated neurologically), visceral sensory testing revealed a minimal threshold for rectal perception of distension of 44 mL (range: 10-130), which sometimes was also perceived as urge to defecate. In a further case, manometry showed major voluntary action of the anal sphincter. These patients had lesions at all levels of the spinal column, ranging from cervical (C4,C6,C7) via thoratical (2 x T7,T8,T12) to lumbar segments. Anorectal function testing, and specifically visceral sensory testing may be superior to neurological assessment of 'completeness' of spinal cord lesions. It may be that visceral afferent pathways others than spinothalamic tract are involved in rectal perception that are less accessible to conventional neurophysiological diagnostic work-up.

Adolescent↗
PubMed1998

Reduced intracortical facilitation in patients with cerebellar degeneration.

OBJECTIVES: Transcranial magnetic stimulation (TMS) was used to study intracortical inhibitory and excitatory phenomena in patients with cerebellar ataxia. METHODS: Motor evoked potentials (MEP) following single and paired TMS were recorded from the first dorsal interosseus muscle (FDI) in 15 patients with autosomal-dominant or idiopathic cerebellar ataxia and 15 age matched normal controls. RESULTS: MEP amplitudes after paired TMS with short interstimulus intervals (1-4 ms) showing intracortical inhibition in the control group were not significantly different in the patient group. In contrast, with longer interstimulus intervals (8-20 ms) mean MEP amplitudes were significantly reduced in the patient group, indicating a decrease of intracortical facilitation. The mean postexcitatory inhibition after TMS was also significantly prolonged in the patient group. CONCLUSION: Our findings support the idea that the cerebellum physiologically exerts a facilitatory influence on the motor cortex which is decreased in patients with a cerebellar degeneration.

Action Potentials↗
PubMed1997

Cortical reorganization in patients with facial palsy.

Possible changes in the organization of the cortex in patients with facial palsy, serving as a model of peripheral motor deefferentation, were investigated by using transcranial magnetic stimulation (TMS) and positron emission tomography (PET). With TMS, the size of the area producing muscle-evoked potentials (MEPs) of the abductor pollicis brevis muscle, the sum of MEP amplitudes within this area, and the volume over the mapping area were compared between both hemispheres in 8 patients. With PET, increases in regional cerebral blood flow, measured with the standard H2(15)O2 bolus injection technique, were compared between 6 patients and 6 healthy volunteers during sequential finger opposition. Patients moved the hand ipsilateral to the facial palsy, the control subjects the right hand. Of 9 patients in total, 5 participated in both experiments. With both methods, an enlargement of the hand field contralateral to the facial palsy was found, extending in a lateral direction, into the site of the presumed face area. The PET data showed that the enlargement of the hand field in the somatosensory cortex (SMC) is part of a widespread cortical reorganization, including the ipsilateral SMC and bilateral secondary motor and sensory areas. We report for the first time, using two different noninvasive methods, that peripheral, mere motor deefferentation is a sufficient stimulus for reorganizational changes in the healthy adult human cortex.

Adaptation, Physiological↗
PubMed1997

The glutamate antagonist riluzole suppresses intracortical facilitation.

The effect of the glutamate antagonist riluzole on excitatory and inhibitory phenomena in the human motor system was studied by transcranial magnetic stimulation (TMS) and peripheral electrical nerve stimulation. The motor threshold, the intracortical inhibition and intracortical facilitation as assessed by paired TMS, the cortical and peripheral silent periods, F wave amplitudes and F wave latencies were measured. Riluzole suppressed the intracortical facilitation whereas other parameters remained unchanged, indicating that the neurotransmitter glutamate is mainly involved in facilitatory mechanisms in the motor system.

Adult↗
PubMed1997

Perioperative lesions of the facial nerve: follow-up investigations using transcranial magnetic stimulation.

Peripheral facial palsy can occur after aural surgery and neurosurgery. Routine neurophysiological investigation (utilizing electrical stimulation and the blink reflex) does not allow the direct assessment of the site of a lesion. In the present study transcranial magnetic stimulation (TMS) was applied in order to evaluate the usefulness of this method for prognosis. Twenty-three patients with postoperative facial pareses (after removals of an acoustic neuroma in 12 patients and parotid tumors in 11) were investigated. Ipsilateral short-latency and contralateral long-latency responses (after cortex stimulation) were elicited. At the first examination (11.7 +/- 9 days after onset of the palsy) the components of the blink reflex were absent in all cases. Responses to electrical stimulation were abnormal in 80%. Ipsilateral short-latency responses after TMS could be obtained in 7 patients. Pathological long-latency TMS responses were elicited in 17 patients. Follow-up investigations up to 2 years revealed no prognostic aspects from peripheral electrical stimulation, the blink reflex and the short-latency TMS response. The absence or extent of delay in long-latency responses at first examination was strongly correlated with final clinical outcomes. As improvements of the responses preceded clinical regressions of the paresis, TMS proved to be an important neurophysiological method for an early prognosis of recovery after perioperative lesions of the facial nerve.

Adult↗
PubMed1996

Muscle phosphofructokinase deficiency in two generations.

Phosphofructokinase (PFK) is the key regulatory enzyme of glycolysis. Patients lacking the muscular isoform of PFK typically present with myopathy and compensated hemolysis (glycogenosis type VII or Tarui's disease). Since 1965 about 30 cases of muscular PFK deficiency have been reported. In most cases family history suggests a recessive inherited trait. We describe a family of Ashkenazi Jewish origin with two members in subsequent generations suffering from muscular PFK deficiency. The propositus, a 19-year-old male patient presented with weakness, myalgias and exercise intolerance since early infancy. His father also had early fatigue on exercise with myalgias; the mother and a 12-year-old brother were asymptomatic. Muscle biopsy of both the propositus and his father showed increased glycogen storage and absent histochemical stain for PFK. Biochemical studies of muscle revealed a markedly decreased PFK activity and DNA analysis of the muscle PFK gene revealed compound heterozygosity in both cases. This is the first description of proven muscle PFK deficiency (glycogenosis type VII) in two subsequent generations.

Adult↗
PubMed1996

[The sympathetic skin response--a useful method for the diagnosis of reflex sympathetic dystrophy?].

UNLABELLED: The aim of the present study was to examine the value of the sympathetic skin response (SSR) in the diagnosis of reflex sympathetic dystrophy (RSD). PATIENTS AND METHODS: SSR was recorded in 20 normal subjects and in 24 patients with predominantly chronic RSD. In 3 patients with RSD, additional recordings of the SSR were performed before and several times after administration of local anaesthetics via a plexus catheter on the diseased side. SSR was recorded with standard EMG apparatus. Disc electrodes were positioned on the middle of the volar and dorsal surfaces of the hands and feet. Electrical stimuli were applied to the middle of the forehead at irregular intervals longer than 60 s. RESULTS: In normal subjects inter- and intraindividually different monophasic, biphasic and triphasic potentials without difference in the waveform between sides were recorded. SSR abnormalities were found in 15 patients with RSD and correlated with the severity of the disease. In patients with slight dystrophy SSR was predominantly normal, while in most of those with intermediate dystrophy differences in the SSR waveform between sides were observed. In the presence of severe dystrophy SSR amplitude was predominantly decreased on the affected side. Following the administration of local anaesthetics via a plexus catheter, the differences in SSR waveform became smaller in patients with initial distinct side difference of the waveform. However, differences in SSR amplitudes or latencies between sides were not affected. CONCLUSIONS: Side differences in SSR waveform could be due to a mild, reversible unilateral sudomotor dysfunction, whereas differences in SSR amplitude or latency indicate more serious damage to sudomotor activity, possibly due to dysfunction of autonomic fibres. In patients with slight dystrophy sweat secretion is predominantly normal, while in severe dystrophy more serious damage to the sweat secretory system can be observed. SSR provides useful information on sudomotor dysfunction in patients with RSD. However, as there is no consensus on the clinical criteria for diagnosis of RSD, it is also not possible to determine the diagnostic value of SSR in the diagnosis of RSD.

English Abstract↗
PubMed1996

Central fatigue assessed by transcranial magnetic stimulation.

Central fatigue is a subjective phenomenon which can be examined using transcranial magnetic stimulation (TMS). To assess central fatigue, we compared TMS and peripheral electrical stimulations in patients with central nervous system (CNS) lesions and controls before and after an exhaustive task. The recovery times of motor evoked potential (MEP) amplitudes were significantly prolonged in the patient group whereas the recovery of F waves and compound muscle action potentials showed no significant changes. The results indicate that fatigue cannot be attributed either to intramuscular processes or to reduced spinal excitability, but reflects a supraspinal, probably cortical phenomenon. The measurement of MEP recovery times proved to be a simple and objective tool for the assessment of fatigue and for the differentiation between healthy controls and patients with CNS lesions.

Action Potentials↗
PubMed1996

Changes of inhibitory interneurons during transcallosal stimulations.

The present study was performed in order to determine the influence of ipsilateral transcranial magnetic stimulations (TMS) on the silent period evoked by contralateral cortical stimulations. Ipsilateral TMS preceded the contralateral magnetic or electrical cortex stimulation by 0-50 ms. In all subjects, the duration of the silent period was decreased in interstimulus intervals of 20-30 ms when using magnetic ipsi- and contralateral stimuli. No change in the silent period was seen with ipsilateral magnetic and contralateral electrical stimulations. Decreases of motor evoked potential amplitudes were an inconsistent phenomenon. The results indicate that ipsilateral TMS in activate inhibitory cortical interneurons, probably via transcallosal pathways. Different time courses and different degrees of inhibition indicate that motor excitation and inhibition may be mediated by different neuronal circuits.

Adult↗
PubMed1996

Spinal MRI in progressive myeloneuropathy associated with vitamin E deficiency.

We describe a patient with a progressive neurological disorder consisting of ataxia, loss of proprioception and pyramidal tract dysfunction in his sixth decade. He had severe vitamin E deficiency due to fat malabsorption secondary to chronic inflammatory bowel disease. Sural nerve biopsy revealed a reduced number of myelinated fibres. MRI of the cervical spine showed high-signal lesions on T2-weighted images in the posterior columns, correlating well with the clinical findings.

Biopsy↗