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  • 1
    Electronic Resource
    Electronic Resource
    Clinicopathological study of atypical motor neuron disease with vertical gaze palsy and ballism (2000)
    Springer
    Acta neuropathologica 100 (2000), S. 342-346 
    Details
    ISSN: 1432-0533
    Keywords: Key words Motor neuron disease ; Vertical gaze palsy ; Progressive supranuclear palsy ; Multiple system atrophy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The case of a 38-year-old patient with rapidly progressing motor neuron disease, complicated by major dysfunction of the extrapyramidal system and of vertical gaze is described. Neuropathological examination revealed a degenerative process that severely affected the lower motor neurons, as well as the neurons of the pars compacta of the substantia nigra, the nucleus of Darkschewitsch, the nucleus interstitialis of Cajal, the colliculi superiores, and the pallidum. The long tracts were unaffected at all levels of the brain stem and spinal cord. There was no convincing evidence for the presence of a multiple system atrophy or progressive supranuclear palsy; the results rather revealed a pattern of vulnerability characteristic of a variant of motor neuron disease.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004010000185
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  • 2
    Electronic Resource
    Electronic Resource
    Impairment of callosal and corticospinal system function in adolescents with early-treated phenylketonuria: a transcranial magnetic stimulation study (1999)
    Springer
    Journal of neurology 246 (1999), S. 21-30 
    Details
    ISSN: 1432-1459
    Keywords: Key words Corpus callosum ; Corticospinal tract ; Phenylketonuria ; Focal transcranial magnetic brain ; stimulation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The transcranial activation and the conduction properties of corticospinal and callosal neurons were investigated in 12 early-treated adolescents (aged 17.3, SD 3.5 years; range 14–27 years) with phenylketonuria (PKU) by focal transcranial magnetic stimulation (fTMS) of the motor cortex. The patients had no functionally relevant motor disturbances in daily life or on clinical testing. Corticospinally mediated excitatory (response thresholds, amplitudes, central motor latencies) and inhibitory [duration of postexcitatory inhibition (PI)] effects of fTMS were investigated in contralateral hand muscles. Transcallosal inhibition (TI) (onset latency, duration, transcallosal latency) of tonic electromyographic (EMG) activity was tested in ipsilateral muscles. Peripheral motor latencies were determined for responses elicited by magnetic stimulation over cervical nerve roots. Ten normal subjects served as controls. Since in all PKU patients, central and peripheral motor latencies were normal, no neurophysiological indication of a demyelination of corticospinal or peripheral motor fibres was found. However, cortical thresholds of corticospinally mediated responses were increased (52.1, SD 11.6% versus 35.0, SD 7.4% of maximum stimulator output; P 〈 0.05; n = 24 hands) and their amplitudes reduced (2.9, SD 1.4 mV versus 6.1, SD 1.5 mV, P 〈 0.05). The duration of PI was shortened (132, SD 53 ms versus 178, SD 57 ms; P 〈 0.05). TI was absent in 37.5% of the investigated hands or tended to be weak. When TI was present, its onset latencies (38.0, SD 3.6 ms versus 34.7, SD 3.3 ms) and transcallosal latencies were prolonged (18.5, SD 3.8 ms versus 14.8, SD 3.2 ms), while its duration was normal. These abnormal excitatory and inhibitory effects of fTMS suggest a reduced susceptibility of cortical excitatory and inhibitory neuronal structures compatible with a loss of neurons or a rarefication of their dendrites.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004150050301
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  • 3
    Electronic Resource
    Electronic Resource
    White matter abnormalities in patients with treated hyperphenylalaninaemia: Magnetic resonance relaxometry and proton spectroscopy findings (1993)
    Springer
    European journal of pediatrics 152 (1993), S. 1012-1020 
    Details
    ISSN: 1432-1076
    Keywords: Phenylketonuria ; Myelination ; Magnetic resonance imaging ; 1H spectroscopy ; T2 relaxometry
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In order to further clarify the pathogenesis and clinical significance of MRI white matter abnormalities in treated hyperphenylalaninaemia (HPA), ten patients (seven type I HPA, two type II and one type III) underwent T2 relaxometry (n=8) and/or1H spectroscopy (n=7) in addition to conventional MR spin-echo imaging at 1.5 T. Two patients with severe MRI abnormalities had repeat examinations during and after a 6-to 8-month period of strict diet control. The clinical evaluation included a detailed neurological examination. In nine out of ten patients visual evoked potentials (VEP) were obtained parallel to the MR examination. MR imaging demonstrated typical symmetrical areas of prolonged T2 relaxation time predominantly in the posterior periventricular white matter in all but one of type I and II patients. There was no consistent relationship between MRI findings and time of diagnosis/initiation of therapy, IQ or visual evoked potential changes. MRI abnormalities tended to be more severe in patients with poor dietary control and high current plasma phenylalanine levels, whereas a normal MRI was found only in patients with plasma phenylalanine levels continuously below 0.36 mmol/l. There was marked regression of MRI abnormalities already after 3 months of strict diet control. T2 relaxometry showed a bi-exponential behaviour of T2 in the affected white matter, with a slow component of about 200–450 ms, indicating an increase in free (extracellular) water.1H spectroscopy revealed no signs of severe neuronal damage. We conclude, that the observed white matter changes in treated HPA probably represent reversible structural myelin changes rather than permanent demyelination.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01957228
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  • 4
    Electronic Resource
    Electronic Resource
    Disturbed myelination in patients with treated hyperphenylalaninaemia: evaluation with magnetic resonance imaging (1991)
    Springer
    European journal of pediatrics 150 (1991), S. 185-189 
    Details
    ISSN: 1432-1076
    Keywords: Phenylketonuria ; Adolescents ; Magnetic resonance imaging ; Myelination
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Cranial magnetic resonance imaging (MRI) was performed in nine treated adolescents with hyperphenylalaninaemia (HPA) in order to analyse possible changes in myelination. Three patients suffered from type I HPA, four from type II and two from type III (persistent HPA). Images were obtained with a 1.5T unit using spin-echo-sequences. In all patients with type I or type II HPA, abnormal findings in the cerebral white matter were demonstrated including band-like and/or confluent patchy areas of high signal intensity predominantly in the peritrigonal region, with anterior and posterior periventricular extension and/or involvement of the subcortical white matter. The extent of MRI changes did not correlate with the initiation, duration or quality of dietary treatment. There was also no consistent relationship between electrophysiological changes and white matter abnormalities on MRI. Our findings suggest a disturbance of myelination in patients with treated HPA. These results correspond well with earlier neuropathological and biochemical studies in untreated patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01963563
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  • 5
    Electronic Resource
    Electronic Resource
    Sensory neuropathy and vitamin B6 treatment in homocystinuria (1993)
    Springer
    European journal of pediatrics 152 (1993), S. 271-271 
    Details
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01956164
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  • 6
    Electronic Resource
    Electronic Resource
    Studies of multimodal evoked potentials in treated phenylketonuria: the pattern of vulnerability (1996)
    Springer
    European journal of pediatrics 155 (1996), S. S64 
    Details
    ISSN: 1432-1076
    Keywords: Key words Hyperphenylaninaemia ; Phenylketonuria ; Evoked potentials ; Metabolic disorders ; Dopamine
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We performed studies of multimodal evoked potentials and peripheral sensory and motor nerve conductions in 33 early and 6 late treated patients with phenylketonuria. The studies revealed the following picture: 1. In 27% of early treated patients latencies of visual evoked potentials were increased. The cause for these changes is unknown. 2. Nerve conduction studies showed the presence of a minor sensory neuropathy which in rare cases may also affect peripheral motor nerves. This neuropathy did not have features of a central-peripheral distal axonopathy which argues against a toxic/nutritional causation. 3. Deficits in the central sensory, motor, and auditory pathways were present, but rare in early treated patients. If the results of electrophysiological studies reported by different groups are compared, the emerging picture is very similar and the majority of the – minor – differences is likely to be explained by technical aspects.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00014254
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  • 7
    Electronic Resource
    Electronic Resource
    ATP Deficits and Neuronal Degeneration Induced by 3-Nitropropionic Acid (1992)
    Oxford, UK : Blackwell Publishing Ltd
    Annals of the New York Academy of Sciences 648 (1992), S. 0 
    Details
    ISSN: 1749-6632
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Natural Sciences in General
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1749-6632.1992.tb24562.x
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  • 8
    Electronic Resource
    Electronic Resource
    Alternative splicing of the 5′-sequences of the mouse EAAT2 glutamate transporter and expression in a transgenic model for amyotrophic lateral sclerosis (2002)
    Oxford, UK : Blackwell Science Ltd
    Journal of neurochemistry 82 (2002), S. 0 
    Details
    ISSN: 1471-4159
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Glutamate-mediated neurotoxicity and a reduced expression of the excitatory amino acid transporter 2 (EAAT2) have been described in the pathogenesis of several acute and chronic neurological conditions. EAAT2 is the major carrier of glutamate in the mammalian brain. However, the principles of EAAT2 expression regulation are not fully understood. For the human brain, extensive alternative splicing of the EAAT2 RNA has been shown. To delineate the complex RNA regulation of EAAT2 we investigated whether the murine species is a suitable model for the study of EAAT2 splicing events. We identified five splice variants (mEAAT2/5UT1–5) encoding different 5′-untranslated sequences and two distinct N-termini of the putative EAAT2 polypeptide. In the murine CNS we found a region-specific expression pattern of the novel 5′-variants of EAAT2 as shown by in situ hybridization, dot blotting and competitive reverse transcription polymerase chain reaction. Furthermore, we performed an expression analysis of the EAAT2 splice variants in the spinal cord of a transgenic model (SOD1G93A) of amyotrophic lateral sclerosis, a motor neurone disease for which altered splicing of EAAT2 has been discussed. We found an increased expression of mEAAT2/5UT4 and a reduction of mEAAT2/5UT5 in the early course of the disease. We conclude that alternative splicing of 5′-sequences may contribute to the regional expression of the EAAT2 RNA and was altered in the pre-symptomatic stage of the SOD1G93A-mouse model for amyotrophic lateral sclerosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1471-4159.2002.01012.x
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  • 9
    Electronic Resource
    Electronic Resource
    Die Spiroergometrie in der Diagnostik mitochondrialer Erkrankungen (1999)
    Springer
    Der Nervenarzt 70 (1999), S. 155-161 
    Details
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Mitochondriale Erkrankungen ; Belastungstest ; Laktat ; Sauerstoffaufnahme ; Anaerobe Schwelle ; Key words Mitochondrial disorders ; Cardiopulmonary exercise test ; Lactate ; Oxygen uptake ; Anaerobic threshold
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Cardiopulmonary exercise testing (CPX) is a non-invasive method of recording quantitative data from gas exchange and ventilation for the evaluation of oxidative metabolism at rest and during exercise. Determination of oxygen uptake (VO2) and carbon dioxide output (VCO2) describes the activity of anaerobic vs aerobic metabolism. An incremental exercise test measuring gas exchange, ventilation and lactate release was performed in healthy volunteers and in patients suffering from mitochondrial disorders. At rest as well as during exercise patients with mitochondrial disorders differ from healthy subjects with regard to gas exchange and ventilation parameters. During exercise, the decreased oxygen utilization of skeletal muscle and early activation of anaerobic metabolism in these patients are mirrored by a reduced anaerobic threshold, reduced maximal oxygen uptake and reduced oxygen pulse. Our study shows that CPX is a sensitive and practical clinical screening method of investigating mitochondrial disorders.
    Notes: Zusammenfassung Die Spiroergometrie ist eine nichtinvasive kardiopulmonale Belastungsuntersuchung mit deren Hilfe durch Messung des Atemgasaustausch und der Ventilation quantitative Daten zur Beschreibung des oxidativen Stoffwechsels in Ruhe und während Belastung erfaßt werden. Durch die Aufzeichnung von Sauerstoff (O2) und Kohlendioxid (CO2) können Rückschlüsse auf eine Aktivierung der anaeroben Glykolyse gezogen werden. Während eines ansteigenden Belastungstests wurden untrainierte Normalpersonen und Patienten mit einer mitochondrialen Erkrankung hinsichtlich Atemgaswechsel, Ventilationsanstieg und Laktatproduktion untersucht. Schon in Ruhe und während Belastung unterscheiden sich Patienten mit mitochondrialen Erkrankungen durch veränderte Atemgasparameter und Ventilation von untrainierten Normalpersonen. Die verminderte Sauerstoffverwertung des Skelettmuskels und der frühzeitige Einsatz des anaeroben Stoffwechsels dieser Patienten werden durch eine erniedrigte anaerobe Schwelle, eine erniedrigte maximale Sauerstoffaufnahme und einen reduzierten Sauerstoffpuls während Belastung erfaßt. Unsere Untersuchungen zeigten, daß die Spiroergometrie als eine sensitive und praktikable Screeningmethode in der klinischen Diagnostik mitochondrialer Erkrankungen angewandt werden kann.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001150050416
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  • 10
    Electronic Resource
    Electronic Resource
    Molekularbiologische Befunde bei der amyotrophen Lateralsklerose (1997)
    Springer
    Der Nervenarzt 68 (1997), S. 785-791 
    Details
    ISSN: 1433-0407
    Keywords: Schlüsselwörter ALS ; Neurogenetik ; Exzitatorische Aminosäuren ; Cu/Zn-SOD ; Key words Amyotrophic lateral sclerosis ; Neurogenetics ; Excitatory amino acids ; Cu/Zn SOD
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary At presently, the etiology and pathogenesis of amyotrophic lateral sclerosis (ALS) are unknown. In recent years, the genetic background of hereditary motor neuron diseases has been partly defined. In particular, these advances represent an opportunity to improve our understanding of the pathogenesis of the familial and sporadic forms of ALS and thus provide a basis for rational therapeutic approaches. In this article, recent findings on the pathogenesis of the familial form of ALS and their implications for the sporadic form are discussed.
    Notes: Zusammenfassung Die Ätiologie und Pathogenese der amyotrophen Lateralsklerose (ALS) bleibt weitgehend ungeklärt. In den zurückliegenden Jahren sind bei den genetisch bedingten Varianten dieser Erkrankung wichtige Fortschritte bei der Identifizierung ihrer molekularbiologischen Grundlagen gemacht worden. Diese Fortschritte berechtigen zu der Hoffnung, daß es in Zukunft gelingt, die Pathogenese der familiären, aber auch der sporadischen Formen der Erkrankung zu erhellen und damit rationalen Therapieansätzen weiter den Weg zu bereiten. Im Rahmen dieser Übersichtsarbeit soll sowohl auf die vorliegenden Befunde bei der familiären Form der ALS (fALS) als auch auf die mögliche Bedeutung dieser Befunde für pathogenetische Vorstellungen bei der sporadischen Form der ALS (sALS) eingegangen werden.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001150050195
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