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  • 1
    Electronic Resource
    Electronic Resource
    Glucocorticoid-sensitive hereditary inclusion body myositis (1996)
    Springer
    Journal of neurology 243 (1996), S. 126-130 
    Details
    ISSN: 1432-1459
    Keywords: Inclusion body myositis ; Heredity ; Immunosuppressive therapy ; Morphology
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report a hereditary muscle disorder with features of inclusion body myositis (IBM) in two adult sisters with slowly progressive asymmetrical muscle weakness. The findings of light microscopic and ultrastructural investigations of muscle biopsy specimens were consistent with a diagnosis of IBM. Both patients improved and stabilized on immunosuppressive treatment with corticosteroids and azathioprine. This differentiates our patients from other sporadic and familial cases of IBM. Clinical and histological features are described and compared with those of other previously reported families with IBM.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02444002
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  • 2
    Electronic Resource
    Electronic Resource
    Ribose-5-phosphate isomerase from Saccharomyces cerevisiae: Purification and molecular analysis of the enzyme (1998)
    Springer
    Bioseparation 7 (1998), S. 107-115 
    Details
    ISSN: 1573-8272
    Keywords: enzyme purification and characterization ; pentose phosphate pathway ; ribose-5-phosphate isomerase ; Saccharomyces cerevisiae ; yeast
    Source: Springer Online Journal Archives 1860-2000
    Topics: Process Engineering, Biotechnology, Nutrition Technology
    Notes: Abstract Purification and molecular analysis of ribose-5-phosphate isomerase (EC5.3.1.6) from Saccharomyces cerevisiae is described first time. The enzymewas enriched from a haploid deletion mutant containing the wild-type gene ona multicopy plasmid elaborating the following steps: ammonium sulphateprecipitation, interfacial salting out on Sepharose 6B, high performanceliquid chromatography on Fractogel EMD DEAE and on Resource Phenyl. Theenzyme activity was found to be rather unstable possibly caused by removalof stabilizing cofactors or proteins during the purification procedure. The purified enzyme showed a hyperbolic dependence on the substrateribose-5-phosphate with a Km-value of 1.6±0.3 mmol/l.For the native enzyme a molecular mass of 115±10 kDa was determinedas found by saccharose density gradient centrifugation, sedimentationequilibrium analysis, size exclusion chromatography and polyacrylamide gelelectrophoresis. Sodium dodecyl sulphate polyacrylamide gel electrophoresisand Western blotting revealed one band with a molecular mass of 31±2kDa. Thus, the native enzyme is composed of four subunits of identicalsize. The molecular mass of the subunit and the identified N-terminal sequenceof 33 amino acids fits well the 258 amino acid protein encoded by the S.cerevisiae RKI open reading frame, which was characterized previously onlyby increasing specific activities of ribose-5-phosphate isomerase in cellsafter cloning the gene. On the basis of the conserved amino acids analignment of the amino acid sequence of ribose-5-phosphate isomerase fromyeast with those of the enzyme from mouse, spinach and Escherichia coli ispresented.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1008087903817
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Neurotransmitters in CSF of idiopathic adult-onset dystonia: Reduced 5-HIAA levels as evidence of impaired serotonergic metabolism (1996)
    Springer
    Journal of neural transmission 103 (1996), S. 1083-1091 
    Details
    ISSN: 1435-1463
    Keywords: Dystonia ; neurotransmitters ; basal ganglia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary While several radiological findings point towards the basal ganglia as a possible anatomical site of the lesion in dystonia patients the biochemical basis of the disorder is still unknown. 5-Hydroxyindoleacetic acid (5-HIAA) and homovanillic acid (HVA) levels — the respective metabolites of serotonin and dopamine — were measured in lumbar cerebrospinal fluid (lCSF) of 15 patients with idiopathic adult-onset focal dystonia and in lCSF of 11 controls. 100 μl lCSF were analyzed for 5-HIAA and HVA by reversed-phase HPLC with electrochemical detection. 5-HIAA levels were significantly reduced in dystonia patients (11.4μg/ml) compared to controls (18.4ng/ml) (p 〈 0.02). HVA levels in dystonia patients (30.3ng/ml) were below control values (41.6ng/ml) but this finding did not reach statistical significance. Decreased lCSF levels of 5-HIAA suggest an impaired serotonin metabolism in patients with idiopathic adult-onset dystonia. This observation may provide a biochemical basis for a more specific pharmacotherapy in dystonia patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01291793
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  • 4
    Electronic Resource
    Electronic Resource
    Distal muscular dystrophy of Miyoshi type (1996)
    Springer
    Journal of neurology 244 (1996), S. 23-29 
    Details
    ISSN: 1432-1459
    Keywords: Key words Distal myopathy ; Muscular dystrophy ; Miyoshi ; myopathy ; Muscle biopsy ; Magnetic resonance imaging
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Miyoshi myopathy (MM) is a rare distal myopathy that mainly occurs in Japan. And that is characterized by prominent involvement of the gastrocnemius muscles. Here we report two patients, brother and sister, from a German family. Onset of the disease was at the age of 20 and 22 years, respectively. In both siblings, there was an early and predominant involvement of the gastrocnemius muscles. Creatine kinase activity was elevated 37- to 95-fold above normal. Electromyography revealed fibrillations, positive sharp waves and a myopathic pattern, particularly in the distal muscles of the lower limbs. Histology of the gastrocnemius muscles showed myopathic changes consistent with muscular dystrophy. Occurrence in these two siblings but in no other family members was indicative of an autosomal-recessive inheritance. Our report indicates that MM may also be found in Germany, and that it should be considered in the differential diagnosis of distal myopathies.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00007726
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  • 5
    Electronic Resource
    Electronic Resource
    Mitochondrial dysfunction in adult-onset myopathies with structural abnormalities (1995)
    Springer
    Acta neuropathologica 89 (1995), S. 152-157 
    Details
    ISSN: 1432-0533
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Three patients with chronic progressive external ophthalmoplegia of adult-onset, generalized muscle atrophy and myalgia are described. Two patients fulfilled the histological criteria for centronuclear myopathy, the third those for fiber-type disproportion. Additionally, typical ragged red fibers were found in all muscle specimens, and several muscle fibers were cytochrome c oxidase negative. NADH and succinate dehydrogenase stains showed increased subsarcolemmal accumulation of mitochondria. To determine whether these findings are coincidental or whether they indicated an additional mitochondrial disorder, all patients were investigated using biochemical analysis of the respiratory chain, molecular genetics, magnetic resonance spectroscopy of quadriceps muscle and ergometry. These tests suggested an additional mitochondrial dysfunction. Mitochondrial dysfunction seems to be more common in this group of myopathies than previously estimated, and may be of importance in the pathogenesis of these disorders.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00296359
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  • 6
    Electronic Resource
    Electronic Resource
    Standardisierte aerobe Gehbelastung auf dem Laufband bei Gesunden sowie Patienten mit mitochondrialen und nichtmitochondrialen Myopathien (1997)
    Springer
    Der Nervenarzt 68 (1997), S. 831-835 
    Details
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Mitochondriale Myopathie ; Ophthalmoplegia plus ; MELAS-Syndrom ; Laktat ; Laufbandbelastung ; Key words Mitochondrial myopathy ; Ophthalmoplegia plus ; MELAS syndrome ; Lactate ; Treadmill exercise
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Mitochondrial myopathies are characterized by an abnormal aerobic metabolism. The present study examines the serum lactate concentration during standardized aerobic treadmill ergometry and evaluates its relevance for the diagnosis of mitochondrial myopathies. The present study includes 50 volunteers without neuromuscular disorders (control group), 13 patients with mitochondrial, and 14 patients with non-mitochondrial neuromuscular disorders. All members of the control group were able to walk 15 minutes on the treadmill at a constant velocity of at least 5 km/h without exceeding the aerobic threshold (2 mMol/l lactate, venous blood). Ten patients with mitochondrial myopathies and 4 patients with non-mitochondrial myopathies already exceeded the aerobic threshold at walking velocities of 4 or 5 km/h. Though indicating a reduced aerobic endurance, a pathological test result does not prove the diagnosis of a mitochondrial myopathy. Sensitivity and specificity of treadmill ergometry did not differ significantly from those reported for bicycle ergometry. Thus, using the most common aerobic activity in daily life, treadmill ergometry can be considered as an alternative to bicycle exercise tests in the assessment of mitochondrial abnormalities.
    Notes: Zusammenfassung Mitochondriale Myopathien sind durch eine Störung des aeroben Energiestoffwechsels gekennzeichnet. Die vorliegende Studie erstellt Referenzwerte für die Serumlaktatkonzentration bei standardisierter aerober Gehbelastung auf dem Laufband und untersucht deren Relevanz für die Diagnostik mitochondrialer Myopathien. Hierzu wurden 50 Personen ohne neuromuskuläre Funktionsstörungen, 13 Patienten mit mitochondrialen Myopathien und 14 Patienten mit anderen neuromuskulären Erkrankungen untersucht. Alle Kontrollpersonen konnten 15 min bei einem konstanten Tempo von mindestens 5 km/h gehen, ohne die aerobe Schwelle (2 mMol/l Laktat, venöses Blut) zu überschreiten. Dagegen überschritten 10 der 13 Patienten mit mitochondrialen Myopathien sowie 4 Patienten mit nicht-mitochondrialen Myopathien bereits bei Geschwindigkeiten von 4 bis 5 km/h die aerobe Schwelle. Ein pathologisches Testergebnis dokumentiert somit eine verminderte aerobe Ausdauer, beweist aber nicht eine mitochondriale Myopathie. Die Sensitivität und Spezifität unterscheiden sich dabei nicht wesentlich von derjenigen der Fahrradergometerbelastung, so daß sich die Laufbandbelastung auf der Grundlage der alltäglichsten aeroben Ausdauerbelastung bei Verdacht auf mitochondriale Funktionsstörungen als Alternative zur Fahrradergometerbelastung anbietet.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001150050201
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  • 7
    Electronic Resource
    Electronic Resource
    Rezidivierende Querschnittsmyelitis Zwei Kasuistiken und Literaturübersicht (1998)
    Springer
    Der Nervenarzt 69 (1998), S. 1115-1122 
    Details
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Myelits ; Querschnittssymptomatik ; Multiple Sklerose ; ADEM ; RDEM ; Key words Myelitis ; Tetraparesis ; Multiple sclerosis ; ADEM ; RDEM
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Recurrent transverse myelitis is a rare inflammatory demyelinating disorder, which is distinguished from acute monophasic transverse myelitis and from MS. We present two patients with recurrent transverse myelitis, who developed an acute remitting tetraparesis and sensible deficits with a cervical level. They were followed for 4 and 5 years. MRI showed an isolated lesion with contrast enhancement in the spinal cord but no pathological cranial findings. Oligoclonal bands were negative in repeated lumbar punctures. One patient showed lymphocytic pleocytosis during the first and second attack. Somatosensory and motor evoked potentials were abnormal during relapses while visually and brainstem acustically evoked potentials (VEP and BAEP) stayed within limits. Laboratory examinations for bacterial, viral or parasitic infections, antinuclear antibodies, Angiotensin-converting enzyme and the sedimentation rate were also normal. The differential diagnosis will be discussed in view of previously reported series. We give a review of the current literature and discuss the differential diagnoses.
    Notes: Zusammenfassung Die rezidivierende Querschnittsmyelitis (RQM) ist eine seltene entzündliche, vorwiegend demyelinisierende Erkrankung des Rückenmarks, die von der akuten monophasischen Querschnittsmyelitis und von der multiplen Sklerose mit Rückenmarksbeteiligung abgegrenzt wird. Wir stellen 2 Patienten mit mehrfach jeweils akut auftretender Tetraparese vor. In der Beobachtungszeit von 4 bzw. 5 Jahren zeigte die Magnetresonanztomographie (MRT) bei beiden einen solitären Herdbefund im Rückenmark bei jeweils unauffälligem cranialen Befund. Oligoklonale Banden wurden bei mehrfachen Liquoruntersuchungen nicht nachgewiesen. Bei einem Patienten fand sich im Liquor eine lymphozytäre Pleozytose während der ersten 2 Schübe. Die motorisch- und somatosensorisch-evozierten Potentiale (MEP und SSEP) waren pathologisch verändert, die visuell und akustisch evozierten Potentiale hingegen immer unauffällig. Laboruntersuchungen zum Nachweis bakterieller, vitaler und parasitärer Erreger, antinukleärer Antikörper, Angiotensin-konvertierendem Enzym sowie der BSG erbrachten keinen pathologischen Befund. Diese Patienten werden mit differentialdiagnostischen Überlegungen beschrieben und vor dem Hintergrund der Literatur diskutiert.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001150050391
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    Paper (German National Licenses)
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  • 8
    Electronic Resource
    Electronic Resource
    Mitochondrial dysfunction in adult-onset myopathies with structural abnormalities (1995)
    Springer
    Acta neuropathologica 89 (1995), S. 152-157 
    Details
    ISSN: 1432-0533
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Three patients with chronic progressive external ophthalmoplegia of adult-onset, generalized muscle atrophy and myalgia are described. Two patients fulfilled the histological criteria for centronuclear myopathy, the third those for fiber-type disproportion. Additionally, typical ragged red fibers were found in all muscle specimens, and several muscle fibers were cytochrome c oxidase negative. NADH and succinate dehydrogenase stains showed increased subsarcolemmal accumulation of mitochondria. To determine whether these findings are coincidental or whether they indicated an additional mitochondrial disorder, all patients were investigated using biochemical analysis of the respiratory chain, molecular genetics, magnetic resonance spectroscopy of quadriceps muscle and ergometry. These tests suggested an additional mitochondrial dysfunction. Mitochondrial dysfunction seems to be more common in this group of myopathies than previously estimated, and may be of importance in the pathogenesis of these disorders.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00296359
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    Paper (German National Licenses)
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