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  • 1
    ISSN: 1433-0407
    Keywords: Schlüsselwörter X-chromosomale bulbospinale Neuronopathie ; Kennedy-Syndrom ; Triplet-repeat-Erkrankung ; Androgenrezeptor ; Motoneuronerkrankung ; Key words X-chromosomal recessive bulbospinal neuronopathy ; Kennedy syndrome ; Triplet repeat disease ; Androgen receptor ; Motoneuron disease
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary X-chromosomal recessive bulbospinal neuronopathy (X-BNS, Kennedy's disease) is an important differential diagnosis of amyotrophic lateral sclerosis. We present the data of ten own patients along with a review of the literature on this uncommon disease which is caused by an expanded CAG-repeat in the androgen receptor gene. This mutation probably affects the transcription regulating activity of the androgen receptor in neurons. Signs and symptoms of X-BSN can be derived from partial insensitivity for androgens and a mixed, mainly motor neuronopathy. The clinical diagnosis is based on: 1. lower motor neuron weakness of bulbar and proximal limb muscles with onset in the third to fifth decade, 2. cramps and pronounced fasciculations, particularly of facial muscles, 3. postural tremor, 4. diminished or absent sensory action potentials inspite of only minor sensory impairment, 5. gynecomastia, and 6. infertility, diabetes mellitus and hyperlipoproteinemia in a minority of cases. Unlike amyotrophic lateral sclerosis, disease progression is slow with barely shortened life expectancy, which should be stressed in patient counselling. Causal treatment is as yet unavailable but several aspects of palliative medicine should be considered.
    Notes: Zusammenfassung Im vorliegenden Artikel wird die X-chromosomal rezessive bulbospinale Neuronopathie (X-BSN, Kennedy-Syndrom) anhand der Beschreibung 10 eigener Patienten und einer Übersicht über die bisherige Literatur vorgestellt. Die Symptome leiten sich von einer motorischen und sensiblen Neuronopathie und einer partiellen Androgeninsensitivität ab. Wegweisend für die Diagnose sind daher: 1. atrophische Paresen, meist ab der 3. bis 5. Dekade, bulbär und proximal betont an den Extremitäten, 2. Muskelkrämpfe und ausgeprägte Faszikulationen, v. a. im Gesicht, 3. Haltetremor der Hände, 4. deutliche Amplitudenreduktion der sensiblen Nervenaktionspotentiale bei nur diskreten klinischen sensiblen Defiziten, 5. Gynäkomastie, 6. gelegentlich Infertilität, Diabetes mellitus und Lipidstoffwechselstörungen. Im Gegensatz zur amyotrophen Lateralsklerose, der wichtigsten Differentialdiagnose, ist die Lebenserwartung aufgrund sehr langsamer Progredienz kaum eingeschränkt. Die Erkrankung beruht auf einer Expansion des CAG-Repeats im Androgenrezeptorgen. Pathogenetisch wird u. a. eine gestörte Funktion des Androgenrezeptors als Transkriptionsfaktor in Nervenzellen diskutiert. Es existieren noch keine kausaltherapeutische Ansätze, jedoch sind zahlreiche palliativmedizinischen Maßnahmen zu bedenken.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Journal of neurology 217 (1977), S. 67-74 
    ISSN: 1432-1459
    Keywords: Tarsal tunnel syndrome ; Peroneal nerve ; M. extensor digitorum brevis ; Anterior tarsal tunnel syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Das 1968 erstmals von Marinacci beschriebene vordere Tarsaltunnelsyndrom besteht in einer Kompression des N. peronaeus profundus unter dem Ligamentum cruciatum. Subjektiv werden heftige, vor allem nachts auftretende Schmerzen im Fußrückenbereich geklagt. Klinisch resultieren sensible Ausfallserscheinungen im entsprechenden Hautareal zwischen der ersten und zweiten Zehe sowie Parese und Atrophie des M. extensor digitorum brevis. Elektroneurographisch findet sich eine erhöhte distale motorische Latenz des N. peronaeus profundus, elektromyographisch ist aktive und chronische Denervierung im M. extensor digitorum brevis nachweisbar. In Fällen mit partiellem vorderen Tarsaltunnelsyndrom wird entweder nur der motorische Ast zum M. extensor digitorum brevis oder nur der sensible Anteil des N. peronaeus profundus nach der Teilung unter dem Ligamentum cruciatum komprimiert. Zwei Fälle mit vollständigem sowie ein Fall mit partiellem vorderen Tarsaltunnelsyndrom werden vorgestellt; Ätiologie, Symptomatologie, Differentialdiagnose und therapeutische Möglichkeiten werden erörtert.
    Notes: Summary The anterior tarsal tunnel syndrome, first described in 1968 by Marinacci, is characterized by a compression of the deep peroneal nerve under the inferior extensor retinaculum. The patients complaint of pains on the dorsum of the foot, especially at night. Clinically result sensory deficits in the involved area between the first and second toes as well as paresis and atrophy of the extensor digitorum brevis. The distal latency of the deep peroneal nerve is increased, the EMG shows active and chronic denervation of the extensor digitorum brevis. In cases with partial anterior tarsal tunnel syndrome only the motoric branch to the extensor digitorum brevis or only the sensory branch of the deep peroneal nerve after the division under the inferior extensor retinaculum is compressed. Two cases with complete and one with partial anterior tarsal tunnel syndrome are presented, etiology, symptomatology, differential diagnosis and therapeutic possibilities are discussed.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1440
    Keywords: X-Linked recessive bulbospinal neuronopathy ; Spinal muscular atrophy ; Motoneuron disease ; Androgen receptor
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract X-linked recessive bulbospinal neuronopathy is a motoneuron disorder to be distinguished from amyotrophic lateral sclerosis. Effective treatment is not known. Patients with X-linked recessive bulbospinal neuronopathy may show gynecomastia and testicular atrophy, and a mutation in the androgen receptor gene has been found associated with the disease. Intermediate steps leading from the androgen receptor abnormality to the clinical syndrome have not yet been elucidated. Therefore, binding of androgen ([3H]dihydrotestosterone) to its specific receptor by genital skin fibroblasts cultured from a patient with X-linked recessive bulbospinal neuronopathy and confirmed androgen receptor mutation was studied. Markedly decreased binding capacity was found. We treated the patient for 6 months with nandrolone-decanoate. No effect on his neuromuscular status was observed during 2 years of follow-up.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1459
    Keywords: Myositis ; Skeletal muscles ; Magnetic resonance imaging ; Creatine kinase ; Electromyography
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The purpose of the study was to describe typical MRI findings in various types of idiopathic inflammatory myopathies in adulthood and to correlate the MRI with histopathological and electromyographic findings, and the serum creatine kinase (CK) activity. A third goal was to assess the diagnostic value of the use of gadolinium-DTPA (Gd-DTPA). Fifty-eight patients (35 women, 23 men), aged 21–83 years (median age 59 years), suffering from idiopathic myositides (13 with acute and 45 chronic diseases; 25 with polymyositis, 14 with dermatomyositis, 8 with granulomatous and 11 with inclusion body myositides) were examined with MRI. Seventeen of them received an intravenous infusion of Gd-DTPA. Histopathological and MRI findings of 21 muscles of 18 patients were compared. MRI of skeletal muscles showed abnormal signal intensities in 56 (96.6%) of the 58 patients. MRI abnormalities were found more often than elevated CK activity (P 〈 0.001). The hyperintensity of T2-weighted images was more conspicuous than on T1-weighted images in 26 (44.8%) patients, indicating oedema-like abnormalities. MRI of 50 (86.2%) patients showed fat replacement. In acute myositides, oedema-like abnormalities were more often visible and in muscle lipomatosis less often visible than in chronic diseases (P 〈 0.05 each). In dermatomyositis oedema-like abnormalities were more and lipomatosis less frequent than in the other types of myositis (P 〈 0.005) and correlated with the acuteness of the disease. In 3 of 17 patients in whom contrast-enhanced T1-weighted images were obtained in addition to plain T1- and T2-weighted images, T2-weighted images were more sensitive in the detection of oedema-like abnormalities than the contrast-enhanced T1-weighted images. In no patient was the opposite true. Thus, contrast-enhanced T1-weighted images did not provide more information than T2-weighted images. Nine patients with poly-, dermato- and inclusion body myositis showed clearly asymmetrical findings. Imaging of the thighs and legs was of similar sensitivity. The different types of myositides showed typical but not specific distributions of the mesenchymal abnormalities in MRI. The findings indicate that MRI of skeletal muscles in myositides can visualize the presence and distribution of oedema-like abnormalities and intramuscular lipomatosis and is suitable for the assessment of the chronicity and severity of the disease.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-1459
    Keywords: Botulism ; Ophthalmoplegia ; Single-fibre electromyography ; Jitter ; Blockings
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A case of complete bilateral internal ophthalmoplegia as the sole clinical sign of botulism is reported. Diagnosis was immediately confirmed by single-fibre electromyography (SFEMG), which revealed abnormally high blocking (14.3%), contrasting with moderately increased jitter (mean consecutive difference in the extensor digitorum communis muscle, 43.9 μs). After giving equine botulinum antitoxin and simultaneous forced emptying of the bowels, ocular symptoms completely disappeared within 2 days. Six days, 5 weeks and 6 months after the first SFEMG study, the jitter was still abnormal, even becoming more so with time. Blocking, however, was only rarely observed in the follow-up studies. It is concluded that SFEMG may serve as a useful and sensitive method for the rapid diagnosis of botulinum intoxication, even in cases where no clinical signs of general muscular weakness are apparent.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Journal of neurology 237 (1990), S. 369-371 
    ISSN: 1432-1459
    Keywords: Oculo- and oculo-pharyngeal myasthenic syndrome ; Focal myasthenia ; Fluctuating paresis ; Brain-stem tumour
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Four patients with tumours involving or compressing the brain stem are described whose initial clinical symptoms of fluctuating paresis of the external ocular muscles and/or the pharyngeal muscles without other neurological deficits led to the primary diagnosis of focal myasthenia. The combination of an unusual clinical pattern, involvement of muscles of only one ocular nerve or severe dysphagia/dysarthria without extension of the myasthenic symptoms, should lead to further investigation to exclude other reasons of a focal myasthenic syndrome such as a brain-stem tumour.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1534-4681
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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