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  • 1
    Electronic Resource
    Electronic Resource
    Encephalomyopathy with multiple mitochondrial DNA deletions and multiple symmetric lipomatosis: further evidence of a possible association (1999)
    Springer
    Journal of neurology 246 (1999), S. 1197-1198 
    Details
    ISSN: 1432-1459
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004150050543
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  • 2
    Electronic Resource
    Electronic Resource
    Multiple mtDNA deletions: Clinical and molecular correlations (2000)
    Springer
    Journal of inherited metabolic disease 23 (2000), S. 155-161 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We studied six Italian patients harbouring multiple mitochondrial DNA (mtDNA) deletions in order to correlate clinical and molecular features. Earlier age at onset (17 vs 36 years), fewer ragged-red fibres (none vs 35%), and lower proportions of deleted mtDNAs (9 vs 33%) were found in one patient with autosomal recessive inheritance as compared to five with dominant transmission. Our findings add to the features associated with multiple deletions of mtDNA.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1005617916260
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    R1 responses of the trigeminofacial reflex in lesions extrinsic to the brain stem (1984)
    Springer
    Neurological sciences 5 (1984), S. 41-44 
    Details
    ISSN: 1590-3478
    Keywords: Trigeminofacial reflex ; early response ; lesions extrinsic to the brain stem
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario Una compromissione isolata o prevalente delle risposte R 1 del riflesso trigemino facciale (rtf) è stata descritta sia nelle lesioni intrinseche del tronco dell'encefalo, che nelle estrinseche. Una giustificazione a tale reperto, in corso di lesioni estrinseche, non è tuttavia riportata in letteratura. Vengono qui riferiti i dati relativi ad una serie di soggetti con lesioni estrinseche del tronco encefalico, associate a compromissione esclusiva o prevalente di R 1.Tale reperto può essere giustificato alla luce della particolare situazione anatomica delle varie fibre nervose sensitive componenti la radice del trigemino.
    Notes: Abstract Isolated or prevalent impairment of the trigeminofacial reflex (tfr) has been described both in pontine lesions and in lesions extrinsic to the brain stem. No satisfactory explanation of this finding in extrinsic lesions has ever been put forward. In a series of patients with lesions outside the brain stem together with selective or prevalent R 1 impairment reported here this finding can be explained by the peculiar anatomy of the various nerve fibers in the trigeminal sensory root.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02043968
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Effects of selenium and vitamin E on muscular strength and blood parameters in Steinert disease (1990)
    Springer
    Neurological sciences 11 (1990), S. 37-42 
    Details
    ISSN: 1590-3478
    Keywords: Steinert disease ; selenium ; vitamin E ; muscle strength ; creatine phosphokinase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario Sei pazienti, affetti da malattia di Steinert, sono stati sottoposti a terapia con selenio e vitamina E per un periodo di 24 mesi, che ha incluso una prima fase di 12 mesi, un intervallo di “wash-out” di 6 mesi ed una seconda fase di trattamento di altri 6. I valori medi di forza segmentaria mostrano un significativo aumento durante i primi 12 mesi di terapia, mentre in alcuni pazienti sono osservabili evidenti riduzioni dei livelli sierici degli enzimi CPK, SGOT, SGPT e γ-GT. Tali risultati sostengono l'ipotesi che il selenio può rivestire un ruolo nello sviluppo del danno muscolare nella malattia di Steinert.
    Notes: Abstract Six patients with Steinert disease were treated with selenium and vitamin E, for a 24 month period, including a first phase of 12 months, 6 months wash-out interval and a second treatment phase of 6 months. Mean segmental strength values showed significant improvement during the first 12 months of therapy, while marked reductions of serum enzymes CPK, SGOT, SGPT and γ-GT were observed in some patients. The results support the hypothesis that selenium may play a role in the development of muscle damage in Steinert disease.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02334903
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  • 5
    Electronic Resource
    Electronic Resource
    Toxic myopathy induced by industrial minerals oils: Clinical and histopathological features (1986)
    Springer
    Neurological sciences 7 (1986), S. 599-604 
    Details
    ISSN: 1590-3478
    Keywords: Myopathy ; toxic agents ; mineral oils
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario Viene descritto un caso di miopatia subacuta insorta in un uomo di 47 anni addetto alla manutenzione e pulizia delle caldaie di combustione di una centrale termoelettrica. L'anamnesi lavorativa mette in risalto la rilevanza dell'esposizione all'inalazione delle ceneri, derivate dalla combustione di oli minerali e contenenti vari elementi, metalli e metalloidi, tra cui in particolare vanadio e nichel. La sintomatologia d'esordio, il decorso clinico ed i dati istopatologici muscolari suggeriscono come l'esposizione al tossico abbia una verosimile importanza nella determinazione del quadro.
    Notes: Abstract We report a case of subacute myopathy in a 47 years old man engaged on boiler maintenance at an oil-fired thermoelectric power station. The occupational history highlighted heavy exposure to inhalation of ash derived from mineral oil combustion and containing several elements, metals and metalloids, including vanadium and nickel. The presenting symptoms, clinical course and muscle histopathology suggest that exposure to toxic agents probably played an important part in the causation of the myopathy.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02341474
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    Paper (German National Licenses)
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  • 6
    Electronic Resource
    Electronic Resource
    Long-term treatment with idebenone and riboflavin in a patient with MELAS (2000)
    Springer
    Neurological sciences 21 (2000), S. S981 
    Details
    ISSN: 1590-3478
    Keywords: Key words MELAS ; Idebenone ; Riboflavin ; Therapy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report a patient with MELAS treated for 24 months with idebenone and riboflavin, during which no stroke-like episodes occured. Moreover neurological symptoms clearly improved, and a recovery of brain MRI and EEG abnormalities was observed. We conclude that the combined treatment with idebenone and riboflavin may restore the metabolic impairment in MELAS, possibly improving the long-term prognosis in these patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100720070015
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  • 7
    Electronic Resource
    Electronic Resource
    Potential involvement of ubiquinone in myotonic dystrophy pathophysiology: new diagnostic approaches for new rationale therapeutics (2000)
    Springer
    Neurological sciences 21 (2000), S. S979 
    Details
    ISSN: 1590-3478
    Keywords: Key words Myotonic dystrophy ; Coenzyme Q10 ; CTG ; Lactate threshold
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract An impairment of mitochondrial function may contribute to the pathophysiology of myotonic dystrophy (MyD). Coenzyme Q10 (CoQ10) deficiency has been previously observed, even if in an restricted sample of patients. The aim of this investigation was to obtain more information about coenzyme Q10 and its relationships to the aerobic metabolism in a group of MyD patients. Serum CoQ10 appeared significantly reduced with respect to normal controls: 0.93±0.22 vs. 1.58±0.28 μg/ml (p〈0.05). Moreover, the results demonstrated an inverse tendency between CoQ10 levels and the CTG expansion degree. Basal blood lactate levels were significantly higher than controls (p〈0.05). A borderline inverse correlation between CoQ10 and lactate, corresponding to lactate threshold, was found. These data suggest a possible role of CoQ10 in the pathogenesis of MyD, which may be mediated by mechanisms of cellular damage common to the oxidative pathway. Therapeutic strategies may be devised by virtue of this rationale.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100720070014
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  • 8
    Electronic Resource
    Electronic Resource
    Abnormal levels of human mitochondrial transcription factor A in skeletal muscle in mitochondrial encephalomyopathies (2000)
    Springer
    Neurological sciences 21 (2000), S. S985 
    Details
    ISSN: 1590-3478
    Keywords: Key words Mitochondrial transcription factor A ; Mitochondrial diseases ; Mitochondrial DNA
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Human mitochondrial transcription factor A (h-mtTFA or Tfam), a 25-kDa protein encoded by a nuclear gene located on chromosome 10q21, is involved in the control of replication and transcription of mtDNA. To better understand the complex relationship between h-mtTFA and mitochondrial function, we assessed by western blot the levels of h-mtTFA in skeletal muscle from 7 patients affected by mitochondrial diseases (MD) caused by different mtDNA mutations. We related these results to exercise lactate production as well as to the pathologic features of the underlying myopathy. h-mtTFFA levels were significantly inversely related to blood lactate and the percent of RRF, borderline to cox negative fibers. Our results indicate that h-mtTFA may be involved in the cascade of events which determine functional impairment of MD.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100720070017
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  • 9
    Electronic Resource
    Electronic Resource
    Cytogenetic damage in peripheral lymphocytes of mitochondrial disease patients (2000)
    Springer
    Neurological sciences 21 (2000), S. S963 
    Details
    ISSN: 1590-3478
    Keywords: Key words Oxidative damage ; Micronucleus assay ; Comet assay ; Mitochondrial diseases ; Coenzyme Q10
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Recent studies indicate an important role of endogenous oxidative stress in the onset and/or in the progression of mitochondrial encephalomyopathies. In particular, the increased production of radical species caused by altered mitochondrial functionality could affect both mitochondrial and nuclear DNA integrity. We performed the micronucleus assay coupled with fluorescence in situ hybridization (FISH) to detect chromosome damage in peripheral blood lymphocytes in a group of patients affected by different forms of mitochondrial encephalomyopathies. Moreover the comet assay has been carried out to detect primary and oxidative damage in the nuclear DNA. Our results show a siginificant presence of both DNA and chromosome damage in patients compared to a matched group of controls. A reduction in DNA alterations is also observed in patients after treatment with coenzyme Q10.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100720070010
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