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  • 1
    Electronic Resource
    Electronic Resource
    Multiple mitochondrial DNA deletions in hereditary inclusion body myopathy (2000)
    Springer
    Acta neuropathologica 100 (2000), S. 23-28 
    Details
    ISSN: 1432-0533
    Keywords: Key words Hereditary inclusion body myopathy ; Mitochondria ; Mitochondrial DNA deletions ; Cytochrome c oxidase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We have recently described an autosomal dominant hereditary inclusion body myopathy (h-IBM). Clinically it is is characterized by congenital joint contractures and slowly progressive, proximal muscle weakness and ophthalmoplegia. There is deterioration of muscle function between 30 and 50 years of age. While young patients show minor pathological changes in muscle, the middle-aged and old patients show rimmed vacuoles and inclusions of filaments measuring 15–18 nm in diameter. Except for the absence of significant inflammation the histopathology is similar to that found in sporadic inclusion body myositis (s-IBM). In s-IBM mitochondrial alterations including cytochrome c oxidase (COX) -deficient muscle fibers are common. These are due to multiple mitochondrial DNA (mtDNA) deletions. In this study we investigated the occurrence of mitochondrial alterations in autosomal dominant h-IBM. Young affected individuals showed no mitochondrial changes but three patients aged 38, 51 and 59 years, respectively, showed ragged red fibers and COX-deficient muscle fibers. Polymerase chain reaction analysis showed multiple mtDNA deletions. By in situ hybridization clonal expansions of mtDNA with deletions were demonstrated in COX-deficient muscle fibers. Most of the analyzed deletion breakpoints showed nucleotide repeats flanking the deletions. The results show that COX-deficient muscle fibers and somatic mtDNA deletions are present in this family with h-IBM. The same factors may be involved in the development of mtDNA deletions in s-IBM and this family with h-IBM.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004010051188
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  • 2
    Electronic Resource
    Electronic Resource
    Dopamine beta-hydroxylase gene excluded in four subtypes of hereditary dystonia (1991)
    Springer
    Human genetics 〈Berlin〉 87 (1991), S. 311-316 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The hereditary dystonias include a clinically heterogeneous group of movement disorders varying in symptoms, age of onset, and drug responsiveness. Dopamine beta-hydroxylase (DBH), the enzyme that converts dopamine to norepinephrine, has been implicated in dystonia because of increased serum levels of DBH in some patients, the influence of catecholaminergic drugs on the human phenotypes, and altered norepinephrine levels in several brain regions in dystonia patients and in genetically dystonic rodents. In addition, markers linked to the dystonia gene in two ethnic groups map close to the DBH locus on human chromosome 9q34. Here we evaluate the inheritance of restriction fragment length polymorphisms near the DBH gene in families with four subtypes of hereditary dystonia: Jewish and non-Jewish, early onset, generalized idiopathic torsion dystonia (ITD); dopa-responsive dystonia; and myoclonic dystonia. In all families, obligate recombination events were observed between the DBH and dystonia genes, thus excluding the DBH gene as the primary defect.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00200910
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Clinical outcome after near-fatal late shunt complication in hydrocephalus (1994)
    Springer
    Child's nervous system 10 (1994), S. 270-274 
    Details
    ISSN: 1433-0350
    Keywords: Hydrocephalus ; Near-fatal shunt dysfunction ; Herniation ; Good prognosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Shunt revision is inevitable in most shunted hydrocephalic children but the revisions rarely affect the prognosis markedly. This report presents the case of an otherwise healthy boy who, after an uneventful gestation and birth, manifested hydrocephalus in the neonatal period and was shunted at the age of 3 months. His subsequent development and school performance were normal until the age of 10 years, when he developed his first episode of shunt dysfunction. During the emergency shunt revision, intraventricular haemorrhage occurred, causing acute neurological symptoms and signs. In the promptly undertaken reoperation external drainage was inserted but accidentally without a functioning air needle. The intracranial pressure (ICP) rose to 40 cm H2O before correction. These incidents were followed by a 4-month period of unstable shunt function (12 reoperations) and deteriorating neurology. When stable shunt function was eventually achieved, he had severe contractures, minimal active motor function and no active speech. During a 2-year period of rehabilitation, he recovered almost normal motor function and normal intellectual function. Memory functions, vigilance and concentration span remained clearly subnormal. He returned to normal school and his performance is average. It is concluded that the relatively favourable outcome is the probable result of reversible partial herniation and increased ICP.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00301167
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    Paper (German National Licenses)
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