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.

[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.

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.

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.

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.

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.

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.

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.

Postexcitatory inhibition after transcranial magnetic single and double brain stimulation in Huntington's disease.

Postexcitatory inhibition (pI) was studied in 13 patients with different clinical forms of Huntington's disease (HD), using a transcranial magnetic single and double stimulation paradigm. We found pathological results of pI in 77% of the HD patients. A significant prolongation of pI could be demonstrated in the group of patients suffering from a classical form of HD.

Enhancement of inhibitory mechanisms in the motor cortex of patients with cerebellar degeneration: a study with transcranial magnetic brain stimulation.

The excitatory state of the primary motor cortex can be studied by measuring either the postexcitatory inhibition after transcranial magnetic single stimulation (pI-S) or the refractory period with magnetic double stimulation (rP-D). The cerebellum may influence the excitability of the motor cortex by cerebellar inputs and outputs from side loops of transcortical projections. Therefore, we studied pI-S and rP-D in 24 patients with autosomal dominant cerebellar ataxia or idiopathic cerebellar ataxia, who were allocated to one group (Group A) with mild to moderate ataxia (n = 11) and to another group (Group B) with severe ataxia (n = 13).

[Screening study of the thyroid gland within the scope of color-coded duplex ultrasound of brain-supplying arteries].

Aim: We undertook this study to establish whether thyroid diseases influence colour-coded Duplex sonography of cerebral arteries and whether colour-coded Duplex sonography is superior to B-mode sonography in detecting pathological changes of the thyroid.

Method: In 154 patients the thyroid gland as well as the cerebral arteries were examined by colour-coded Duplex sonography.

Results: In 13% of the examined carotid arteries, stenosis or occlusion was detected.

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.

[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.

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.

Changes of cortical motor area size during immobilization.

Changes of motor cortex organization after lesions in the nervous system can be demonstrated by mapping the motor cortex with transcranial magnetic stimulation. We studied cortical plasticity in 22 patients who had a unilateral immobilization of the ankle joint without peripheral nerve lesion. The motor cortex area of the inactivated tibial anterior muscle diminished compared to the unaffected leg without changes in spinal excitability or motor threshold.

Sympathetic skin response in patients with reflex sympathetic dystrophy.

The sympathetic skin response (SSR) originates from synchronized activation of the sweat glands as a response to a volley discharge in efferent sympathetic nerve fibres. The aim of the study was to verify the diagnostic value of SSR in patients with reflex sympathetic dystrophy (RSD). SSR was recorded in 20 normal subjects and in 24 patients with predominantly chronic RSD.

A missense point mutation (Ser515Phe) in the adrenoleukodystrophy gene in a family with adrenomyeloneuropathy: a clinical, biochemical, and genetic study.

A 36 year old male patient with adrenomyeloneuropathy (AMN) developed progressive spastic paraparesis and sensory ataxia from the age of 18. Biochemical studies showed increased plasma concentrations of saturated very long chain fatty acids (VLCFAs), subclinical evidence of adrenal insufficiency, and primary hypogonadism. Three female family members had increased plasma concentrations of VLCFAs, suggesting carrier status of adrenoleukodystrophy (ALD).

Follow-up investigations of peripheral facial palsy by transcranial magnetic stimulation.

Twenty-three patients (10 men, 13 women; age: from 23 to 81 years, mean 52 years) with Bell's palsy were investigated by magneto-electrical stimulation in order to evaluate the usefulness of this method for prognostication. At each examination the facial nerve was electrically stimulated, and an orbicularis-oculi-reflex was elicited. Follow-up investigations were possible in 13 patients.

[Assessment of central nervous system functional disorders in severely burned patients by auditory evoked brain stem potentials].

The recording of brainstem auditory evoked potentials (BAEP) in severely burned patients can be used for judgement of brainstem function independent of consciousness and CNS-effective drugs. The frequency of central-nervous system complications due to burn injuries is between 7 and 30%. Using BAEP-recordings, we found objective neurophysiological parameters of central-nervous dysfunction in 12 of 25 severely burned patients (48%).

[Transcranial magnetic stimulation in diagnosis of trigeminal neuralgia].

Patients with trigeminal neuralgia are usually investigated by elicitation of the orbicularis oculi reflex and trigeminal evoked potentials. These neurophysiological methods do not allow direct judgement of the trigeminal nerve. By transcranial magnetic stimulation, however, non-invasive investigation of the efferent part of the trigeminal nerve is possible.

[Acute effect of metoclopramide on esophagus motility in diabetes mellitus].

The acute effect of metoclopramide on oesophageal motility was investigated prospectively in 33 consecutive patients (20 men and 13 women; mean age 60.5 +/- 12.6 years) with type I (n = 8) or type II (n = 25) diabetes.

[Duration of the exteroceptive suppression of temporal muscle activity as a parameter for therapy control in tension-type headache-a pilot study.].

Unlabelled: The period of late exteroceptive suppression (ES 2) of the temporalis muscle is often shortened in patients with chronic tension-type headache. The present study was conducted to find out whether the ES 2 is influenced by muscle relaxation training and whether it is rather a state or a trait marker.

Methods: The ES 2 was measured in seven female outpatients with chronic tension-type headache before, during, and after a 6-week period of muscle relaxation training.

[Transcranial magnetic stimulation in perioperative damage to the facial nerve].

5 patients (3 men, 2 women, aged from 28 to 51 years) with unilateral facial palsy after surgery of a cerebellopontine angle tumour have been investigated by transcranial magnetic stimulation. The purpose was to evaluate the prognostic aspects of this method, which was compared with the electrical stimulation of the facial nerve and the elicitation of an orbicularis-oculi reflex. The components of the blink reflex were absent in all cases.