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  • 1
    Electronic Resource
    Electronic Resource
    Increased ammonia production during forearm ischemic work test in McArdle's disease (1981)
    Springer
    Journal of molecular medicine 59 (1981), S. 1319-1320 
    Details
    ISSN: 1432-1440
    Keywords: McArdle's disease ; Glycogenosis V ; Ammonia ; Lactate ; Ischemic work test ; McArdle-Syndrom ; Glycogenose V ; Ammoniak ; Laktat ; Ischämietest
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Es wird ein Patient mit einem typischen “late onset” McArdle-Syndrom beschrieben. Während ischämischer Arbeit fand sich bei dem Patienten ein exzessiver Anstieg des Ammoniaks im Plasma. Dies dürfte auf einer Aktivierung der Myokinase/Myoadenylat-Deaminase-Reaktionen beruhen. Neben dem charakteristischerweise fehlenden Laktatanstieg unter ischämischer Arbeit scheint eine vermehrte Ammoniak-Freisetzung für das McArdle-Syndrom typisch zu sein.
    Notes: Summary A patient with typical features of late onset McArdle's disease is described. During forearm ischemic work test the patient exhibited an exaggerated increase in ammonia release, largely exceeding normal values. It is suggested, that this is due to an activation of the myokinase/myoadenylate deaminase pathway. Besides lack of lactate release increased ammonia release during ischemia may be a typical feature of McArdle's disease.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01711182
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  • 2
    Electronic Resource
    Electronic Resource
    Neurophysiologische Untersuchungen über das Stadium passagerer Lähmung bei Myotonia congenita und Dystrophia myotonica (1973)
    Springer
    Journal of neurology 204 (1973), S. 135-148 
    Details
    ISSN: 1432-1459
    Keywords: Myotonia congenita ; Myotonia atrophica ; Nerve stimulation ; Muscle tension ; Myotonic muscle fibre activity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Die ersten Muskelkontraktionen nach Ruhe führen bei Myotonie-Patienten zu einer vorübergehenden Bewegungsbehinderung. Diese wird vorwiegend im Zusammenhang mit der gleichzeitig auftretenden Steifigkeit des myotonen Muskels erklärt. Untersucht werden sollte die Frage, ob nicht die Bewegungsbehinderung zumindest teilweise durch eine vorübergehende Muskellähmung hervorgerufen wird. Bei 6 Patienten mit Myotonia congenita und 5 mit Dystrophia myotonica wurde nach 30 sec Muskelruhe eine repetitive Reizung am Nervus ulnaris durchgeführt. Das Muskelaktionspotential wurde vom Adductor pollicis abgeleitet und die Muskelkraft isometrisch am Daumen gemessen. 3 Patienten mit Myotonia congenita zeigten bei 15 und 25 c/sec unmittelbar nach Beginn der Reizung eine Lähmungsphase mit vorübergehendem Absinken des Muskelaktionspotentials und der Muskelspannung. Bei diesen Patienten war klinisch die myotone Bewegungsbehinderung besonders ausgeprägt. Bei Patienten mit leichterer Myotonie war die Lähmungsphase geringer vorhanden, ebenso bei den Fällen mit Dystrophia myotonica. Die Muskellähmung unter Serienreizung unterscheidet sich deutlich von den Befunden bei Myasthenia gravis und myasthenischem Syndrom. Die Impulsübertragung an der neuromuskulären Endplatte scheint intakt zu sein. Prostigmin und Guanidinhydrochlorid haben keinen Effekt. Procainamid und Magnesium bessern geringfügig. Wahrscheinlich handelt es sich um eine Störung an der Muskelfaser selbst, möglicherweise um einen Depolarisationsblock an der Membran.
    Notes: Summary Muscle stiffness is one of the outstanding features of myotonia. Repetitive contraction of a muscle after rest leads to a state of rigidity. The patient is hardly able to continue his movements despite great efforts. This impediment of motility has hitherto been considered to be connected with the muscle stiffness. Clinical observation, however, discloses that the muscle stiffness in myotonia congenita is frequently accompanied by a transient paresis. The question is, therefore, whether the impediment of myotonic motility is partly caused by a temporary paresis of the muscle. We examined 6 patients with myotonia congenita and 5 patients with myotonia atrophica. Repetitive supramaximal stimuli were applied to the ulnar nerve after 30 min of muscle rest. The muscle action potentials were registered from the adductor pollicis. The muscle tension was measured isometrically at the thumb. Stimulation frequency: mostly 15 or 25 c/sec. Results: 3 patients with myotonia congenita manifested a clearly distinguishable temporary phase of paresis directly after stimulation was begun (Figs. 1–4). The amplitude of the action potentials and the muscle tension showed a rapid decline during the first 2 sec of stimulation. This period of paresis was noticeable to a lesser extent in patients with myotonia atrophica (Figs. 2 and 3). The fall in amplitude observed in the patients with myotonia differs distinctly from the findings in myasthenia gravis (Fig. 4). Neuromuscular transmission seems to remain intact. Prostigmine and guanidine hydrochloride have no effect. Procainamide and magnesium bring about a slight improvement. Probably the disturbance is due to an alteration of the muscle fibre membrane.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00315938
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  • 3
    Electronic Resource
    Electronic Resource
    Spezifische Cholinesterasen im Blut von Myotonie-Patienten (1974)
    Springer
    Journal of molecular medicine 52 (1974), S. 993-994 
    Details
    ISSN: 1432-1440
    Keywords: Myotonia ; Acetylcholinesterase ; Myotonie ; Acetylcholinesterase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Die Aktivität der Acetylcholinesterase (AChE) in Serum und Erythrocyten wurde bei 10 Patienten mit verschiedenen Myotonie-Formen nach der Mikromethode von Meincke und Oettel bestimmt. Die gefundenen Aktivitätswerte liegen im oberen Normbereich und z.T. darüber. Die Befunde werden mit Angaben aus der Literatur verglichen. Es besteht kein Anhalt für die Vermutung, daß eine erniedrigte AChE-Aktivität in Serum und Erythorcyten für die Ätiologie der Myotonie verantwortlich ist.
    Notes: Summary The activity of acetylcholinesterase (AChE) in serum and erythrocytes was measured by the electrometric microtest of Meinecke and Oettel in 10 patients with various kinds of myotonia. The activity of the enzyme was found to be in the upper normal range, and occasionally higher. The findings are compared with data given in the literature. There is no evidence justifying the presumption that myotonia is due to a lowered AChE-activity in serum or erythrocytes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01468661
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  • 4
    Electronic Resource
    Electronic Resource
    Epitope spreading and a varying but not disease-specific GAD65 antibody response in Type I diabetes (2000)
    Springer
    Diabetologia 43 (2000), S. 210-217 
    Details
    ISSN: 1432-0428
    Keywords: Keywords Glutamate decarboxylase, autoantibodies, epitope-specificity, Type I diabetes, polyendocrine autoimmune syndrome, stiff-man syndrome, prediabetes.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Aims/hypothesis. The aim of this study was to analyse the conformational and linear epitope profiles of glutamic acid decarboxylase antibody (GAD65-ab)-positive sera to find disease-specific epitope profiles and to study, whether GAD65-ab epitope recognition changes or spreads during the prediabetic period and, thus, can provide markers to differentiate early from later stages of progression to diabetes.¶Methods. Sera from subjects before (n = 21), at onset (n = 44), or at increased risk of Type I (insulin-dependent) diabetes mellitus (n = 20) and from patients with stiff-man syndrome (SMS, n = 18) or polyendocrine autoimmune syndrome (PAS, n = 21) were analysed for conformational and linear GAD65 epitope recognition by an immunohistochemical blocking test based on human monoclonal GAD65-ab (MICA 1–10) and western blotting of a GAD65 epitope-cDNA-library.¶Results. A redundant reactivity of many GAD65-ab positive sera to three major conformational (EP-1, EP-2, EP-3) and two dominant linear epitope clusters (amino acid 1–124 and 535–585) was observed in diabetes, polyendocrine autoimmune syndrome and stiff-man syndrome and no disease-specific epitopes or epitope-profiles were detected. Epitope recognition broadened with higher titres and with the vulnerability of patients to acquire additional autoimmune diseases apart from diabetes. Low GAD65-ab serum titres ( 〈 1200 arbitrary units) and EP-1 recognition in the absence of EP-2 binding characterised the early immune response. Changing epitope profiles combined stable recognition of EP-1 with gain or loss of reactivity to C-terminal epitopes during follow-up.¶Conclusion/interpretation. A maturing autoantibody response, which could spread from EP-1-recognition to other regions of GAD65, resulted in titre-related rather than disease-specific epitope profiles which were not sufficient to predict whether GAD65-ab positive subjects will progress to Type I diabetes, autoimmune polyendocrine syndrome or stiff-man syndrome. [Diabetologia (2000) 43: 210–217]
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001250050031
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  • 5
    Electronic Resource
    Electronic Resource
    Rapid goal-directed elbow flexion movements: limitations of the speed control system due to neural constraints (1985)
    Springer
    Experimental brain research 59 (1985), S. 470-477 
    Details
    ISSN: 1432-1106
    Keywords: Three-burst pattern ; Rapid goal-directed movements ; Speed control ; Braking process
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary In rapid goal-directed elbow flexion movements the influence of both movement amplitude and inertial load on the three-burst pattern and the consequences on movement time were studied. Subjects performed visually guided, self-paced movements as rapidly and as accurately as possible. An increase of both the movement amplitude and the inertial load were found to be interacting factors for the modulation of the three-burst-pattern and movement time. The first biceps burst progressively increased in duration and amplitude for larger movements, resulting in prolonged movement times. Surplus inertial loads further prolonged the agonist burst for large, but not for small movement amplitudes. The activity of the antagonist burst, in contrast, was largest in small movements and successively decreased at increasing movement amplitudes. Its duration, however, remained fairly constant. As was similarly observed for the agonist burst, surplus inertial loads lead to a prolongation of antagonist burst duration and an increase of the activity integral for large, but not for small movement amplitudes. It is suggested that in elbow flexion movements the programming of fastest goal-directed movements must take into account neural constraints and biomechanical characteristics of the agonist muscle and the antagonist muscle. Due to neural constraints of the biceps muscle, in contrast to finger movements, the concept of movement time invariance does not hold for elbow movements. Furthermore, neural constraints of the antagonist muscle lead to a limited force production of the agonist muscle at small movement amplitudes in order to avoid an overload of the braking process. The complexity of the relationship between neural and mechanical factors indicate that the size and timing of the three-burst-pattern has to be subtly adjusted to the precise nature of the task and its biomechanical characteristics.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00261336
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  • 6
    Electronic Resource
    Electronic Resource
    Human ballistic finger flexion: Uncoupling of the three-burst pattern (1984)
    Springer
    Experimental brain research 55 (1984), S. 127-133 
    Details
    ISSN: 1432-1106
    Keywords: Ballistic movement ; Three-burst pattern
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary In isotonic and isometric goal-directed index finger movements made as fast as possible, the “braking hypothesis” ascribed to the antagonist burst was tested. Under isotonic conditions, the extensor burst often failed to occur in small angle movements with low inertial load. It regularly occurred, however, in small angle movements with high inertial load and in wide angle movements with both low and high inertial loads. Such features suggest, indeed, the antagonist burst as being part of braking strategies. Under isometric conditions, the antagonist burst — if it occurred — exhibited characteristics which suggested a rapidly alternating movement rather than a braking strategy.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00240506
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  • 7
    Electronic Resource
    Electronic Resource
    Neurological outcome in adult patients with early-treated phenylketonuria (1998)
    Springer
    European journal of pediatrics 157 (1998), S. 824-830 
    Details
    ISSN: 1432-1076
    Keywords: Key words Intelligence ; Neurology ; Neuropsychology ; Phenylketonuria
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Due to the observation of severe neurological symptoms in single patients as well as brain imaging, neuropsychological and neurophysiological abnormalities, the long-term prognosis of treated phenylketonuria is still under discussion. We investigated the neurological outcome of 57 (24 male, 33 female) patients with phenylketonuria (diet onset 〈3 months) at a mean age of 23.6 (17–33) years in comparison to control subjects. Methods used were a clinical-neurological examination, tests for fine motor abilities, IQ test (WAIS-R), a neuropsychological attention task and MRI (30 patients only). Tremor was increased in the patients (28%) compared to controls (15%). Fine motor abilities were significantly reduced in three areas: hand-wrist steadiness, finger-hand dexterity and hand-wrist speed. Tremor as well as reduced fine motor skills were not associated with treatment-related variables, e.g. diet onset, strictness of biochemical control or amount of MRI white matter change. IQ was lower in patients (mean 97.6) compared to matched control subjects (mean 105.5). IQ at 12 years was correlated with biochemical control from birth up to the age of 12 and remained stable up to adult age, independent of biochemical control after 12 years of age. In contrast to the other outcome parameters, the performance in a neuropsychological attention task was influenced by the concurrent plasma phenylalanine concentration. Specific late-onset neurological impairment was not identified in this sample of early-treated adults with phenylketonuria. Conclusion Careful neurological investigation revealed subtle symptoms of brain damage even after early-initiated treatment in adult patients with phenylketonuria. At present it cannot be excluded that further neurological deterioration could emerge later in life. Thus, patients with phenylketonuria – either on or off diet – should be monitored throughout life.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050945
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  • 8
    Electronic Resource
    Electronic Resource
    Immune-mediated retinopathy in a patient with stiff-man syndrome (1999)
    Springer
    Graefe's archive for clinical and experimental ophthalmology 237 (1999), S. 212-219 
    Details
    ISSN: 1435-702X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  · Background: Stiff-man syndrome is a rare neurological disorder characterised by rigidity and violent spasms of the body musculature. In the majority of patients, presence of antibodies against glutamic acid decarboxylase (GAD), the enzyme synthesizing γ-aminobutyric acid (GABA), suggests an autoimmune attack against GABA-ergic inhibitory neurons. We report a 32-year-old patient with stiff-man syndrome and anti-GAD antibodies who developed subacute progressive loss of vision in the right eye, and in the left eye 18 months thereafter. · Methods: Ophthalmological work-up included electro-retinogram (ERG), visual evoked potentials (VEP) and fluorescein angiography. Antiretinal antibodies were investigated using an indirect immunofluorescence technique on frozen sections of macaque retina with patient´s serum and FITC-conjugated goat antihuman immunoglobulin. Staining with monoclonal anti-GAD65 antibodies and with serum from three healthy normals served as controls. · Results: Visual acuity of both eyes decreased to 0.16 within a span of 6 weeks. Perimetry revealed a central scotoma in the visual field of both eyes. VEP and flash ERG were progressively disturbed on the right eye. On the left eye, initially only pattern ERG and photopic responses were abnormal. Follow-up recordings revealed widespread pathology of photopic single and flicker responses. Immunofluorescence revealed strong reactivity of the inner plexiform layer and to a lesser extent staining of the outer plexiform layer at dilutions of 1:1000 with patients serum. The same retinal staining pattern was obtained with monoclonal anti-GAD65 antibodies. · Conclusions: These findings suggest autoimmune retinopathy, mediated by anti-GAD65 autoantibodies as the underlying cause of visual loss.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004170050221
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  • 9
    Electronic Resource
    Electronic Resource
    Das Stiff-Man-Syndrom aus neurologischer Sicht (2000)
    Springer
    Der Internist 41 (2000), S. 455-459 
    Details
    ISSN: 1432-1289
    Keywords: Schlüsselwörter ; Stiff-Man-Syndrom (SMS) ; Stiff-Limb-Syndrom (SLS) ; Enzephalomyelitis, progressive ; Autoimmunerkrankungen, Enzephalomyelitis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Zum Thema Das Stiff-Man-Syndrom (SMS) ist durch fluktuierende muskuläre Rigidität und Spasmen ohne zunächst weitere neurologische Symptome gekennzeichnet. Treten aber neurologische Symptome hinzu, liegt als „Plus”- Variante des SMS eine progressive Enzephalomyelitis mit Rigidität und Myoklonien (PERM) vor. Der Befall nur einer Gliedmaße ist eine „Minus”-Variante und wird als Stiff-Limb-Syndrom (SLS) bezeichnet. Rechnet man die Prävalenz des SMS im Heidelberger Raum hoch, dürfte es hierzulande ca. 500–800 Patienten (übrigens auch weibliche!) mit SMS geben. Über Epidemiologie, Klinik, Diagnostik, Differentialdiagnose und Therapie wird im folgenden ein Überblick gegeben. Dagegen werden immunologische Gesichtspunkte eingehend in der Arbeit von J. Seissler et al. in diesem Heft des INTERNIST behandelt.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001080050538
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  • 10
    Electronic Resource
    Electronic Resource
    Borrelia burgdorferi myelitis presenting as a partial stiff man syndrome (1990)
    Springer
    Journal of neurology 237 (1990), S. 51-54 
    Details
    ISSN: 1432-1459
    Keywords: Borrelia burgdorferi ; Myelitis ; Spasmodic myoclonus ; Stiff man syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Eight weeks after a tick bite, a 33-year-old male patient presented with stiffness of one leg together with spasmodic painful jerks resembling stiff man syndrome. Isolated myelitis of lumbosacral segments of the spinal cord, apparently confined to the grey matter, was diagnosed and its spirochaetal aetiology confirmed by serology and CSF findings. Oligoclonal IgG bands in CSF specific for Borrelia burgdorferi were found. Thus, there is evidence that B. burgdorferi ist able to cause a localized myelitis, probably of spinal interneurons, presenting as a partial stiff man syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00319670
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