bluuebunny/crossref_metadata_2025_split huggingface dataset:
Screening of dominantly inherited Charcot–Marie–Tooth neuropathies
Authors: Ionasescu Victor V. , Ionasescu Rebecca , Searby Charles 
Published: January 2005

AbstractSixty‐three families with dominantly inherited Charcot–Marie–Tooth (CMT) neuropathies including 730 subjects (total) from which 356 affected were studied clinically, electrophysiologically (MNCVs and EMGs), by genetic linkage, and screened for DNA duplication. Thirtyeight families (60.3%) were type 1A (demyelinating CMT mapped on chromosome 17). DNA duplication was present in 36 families (94.8% of CMT1A families). One CMT1A family (2.6%) showed no duplication but suggested genetic linkage with markers of chromosome 17. One CMT1A family (2.6%) revealed nonduplication in some affected members and duplication in other affected members. The disease in that family segregated with the same chromosome 17 markers regardless of duplication status. The other CMT families with dominant inheritance but without duplication included one family with CMT1B (demyelinating CMT mapped on chromosome 1) (1.6%), 14 families with CMT2 axonal neuropathy (22.2%), and 10 families with X‐linked dominant CMT (15.9%). © 1993 John Wiley & Sons, Inc.
Determinants of mean motor unit size: Impact on estimates of motor unit number
Authors: Doherty Timothy J. , Stashuk Daniel W. , Brown William F. 
Published: January 2005

AbstractThe purpose of this study was to compare two fundamentally different methods of deriving the average surface‐detected motor unit action potential (S‐MUAP) size from which to calculate a motor unit number estimate (MUNE), namely: (1) the simple arithmetic average of S‐MUAP parameter values; and (2) a computer‐derived datapoint by datapoint average waveform which takes account of differences in S‐MUAP shapes and durations. Multiple point stimulation was used to collect representative samples of between 11 and 20 S‐MUAPs (mean 15 ± 2 SD) from the median‐innervated thenar muscles of 20 healthy control subjects between 20 and 76 years of age (mean 48 ± 19 SD). The average S‐MUAP size based on peak‐to‐peak amplitude, negative peak amplitude, and negative peak area measurements was calculated using the two different methods. The mean S‐MUAP sizes based on the average waveform were significantly lower in all cases than those based on the simple average of S‐MUAP parameter values. Differences tended to be greatest for MUNEs based on peak‐to‐peak amplitude (35%), less for negative peak amplitude (20%), and least for negative peak area (16%). © 1993 John Wiley & Sons, Inc.
Emery‐Dreifuss muscular dystrophy with unusual features
Authors: Deymeer Feza , Öge A. Emre , Bayindir Çiçek , Kaymaz Cihangir , Nişanci Yilmaz , Adalet Kamil , Yates John R. W. , Ózdemir Coşkun 
Published: January 2005

AbstractTwo families with Emery‐Dreifuss muscular dystrophy (EMD) are described. Several unusual features for EMD are emphasized. One of the patients had severe neuromuscular disability with inability to walk during early childhood. This patient also had mild bifacial paresis. His brothers had the typical slow progression of EMD. In some of the patients, muscle weakness distribution was more widespread than has usually been reported, with prominent involvement of finger extensors. It is suggested that there is a wide phenotypic spectrum in EMD. In both families, the disease segregated with markers spanning the EMD locus in Xq28. © 1993 John Wiley & Sons, Inc.
Paraneoplastic pseudo‐obstruction, mononeuropathy multiplex, and sensory neuronopathy
Authors: Liang Bertrand C. , Albers James W. , Sima Anders A. F. , Nostrant Timothy T. 
Published: January 2005

AbstractA patient with mononeuropathy multiplex, sensory neuronopathy, and diffuse intestinal pseudo‐obstruction consisting of gastroparesis and impaired small and large bowel motility was found to have a small cell carcinoma of the lung. The constellation of findings were indicative of paraneoplastic neuropathy, which was confirmed with the appropriate antibody studies demonstrating antineuronal nuclear antibodies. Identification of paraneoplastic neuropathy is important, since early treatment of the primary cancer, which is virtually always a small cell carcinoma of the lung, may halt the progression of the disorder. © 1994 John Wiley & Sons, Inc.
Electrophysiological characterization of pre‐ and postoperative facial nerve function in patients with acoustic neuroma using electrical and magnetic stimulation techniques
Authors: Rösler Kai M. , Jenni Walther K. , Schmid Urs D. , Hess Christian W. 
Published: January 2005

AbstractFacial nerve function was examined in patients who underwent posterior fossa surgery for unilateral acoustic neuroma. Examinations took place prior to surgery (n = 47 patients), early after surgery (0–12 days, n = 16 of 47 patients), and late after surgery (187–1505 days, n = 29 of 47 patients). Clinical signs of facial palsy were present to a variable extent in 13 of 47 patients before, in 12 of 16 patients early, and in 18 of 29 patients later after surgery. Electrophysiologically, the facial nerve was stimulated electrically at the stylomastoid fossa and magnetically at its proximal intracanalicular segment. In addition, the faceassociated motor cortex was stimulated magnetically. In patients with facial palsy, any of these stimulation methods resulted in a decreased amplitude of the response in the nasalis muscle. The decrease showed a linear relationship to the clinical grade of palsy, pre‐ and postoperatively. Corticomuscular latencies remained unchanged. We conclude that: (i) the electrophysiological characteristics of facial nerve lesions due to compression by acoustic neuromas or due to a complication of neuroma removal are those of a purely axonal neuropathy; (ii) the three stimulation techniques have a similar diagnostic yield, thus making the use of all three of them redundant; and (iii) the electrophysiological techniques allowed no prediction of the final facial nerve function. © 1994 John Wiley & Sons, Inc.
Expression of utrophin (dystrophin‐related protein) and dystrophin‐associated glycoproteins in muscles from patients with Duchenne muscular dystrophy
Authors: Mizuno Yuji , Yoshida Mikiharu , Nonaka Ikuya , Hirai Shunsaku , Ozawa Eijiro 
Published: January 2005

AbstractWe examined whether the dystrophin‐associated glycoprotein complex (GPC), which serves to fix dystrophin to cell membranes, is present at the sarcolemma in Duchenne muscular dystrophy (DMD) muscles using an immunohistochemical method. Antibodies against 50DAG (A2) and 43DAG (A3a). the components of GPC, were used for the detection of GPC. We found that, although the amount of GPC was reduced in DMD muscles where ulrophin but not dystrophin was distinctly present, 43DAG (A3a) was fairly heavily and 50DAG (A2) was lightly but distinctly stained on the cell surfaces. It is likely that the capability of utrophin to preserve 50DAG (A2) is less than that of dystrophin, although utrophin has been reported to bind to GPC. We also found that 43DAG (A3a) but not 50DAG (A2) was detected in the peripheral nerves where utrophin was detected. Therefore, it is likely that 43DAG (A3a) is essential for the fixation of utrophin to cell membranes, as in the case of dystrophin. 50DAG (A2) may play other important roles in the pathogenesis of DMD. © 1994 John Wiley & Sons, Inc.
Neuropathy in familial amyloidosis, Finnish type (FAF): Electrophysiological studies
Authors: Kiuru Sari , Seppäläinen Anna‐Maria 
Published: January 2005

AbstractWe report, for the first time, electrophysiological findings in the Finnish type of familial amyloidosis (FAF), a gelsolin‐related form of systemic amyloidosis. Electromyography, nerve conduction studies, and blink reflex examinations were performed in 30 patients (age range 27–74 years). Cranial nerve involvement was detected in all, and peripheral nerve involvement in the majority of patients. Carpal tunnel syndrome was a characteristic feature of FAF, previously unrecognized. Myokymia‐type short spontaneous bursts in frontal muscles were found in 3 younger patients. In addition to signs of axonal degeneration we found slow nerve conduction, prolonged distal motor latencies, and conduction blocks suggestive of demyelination. Most nerve conduction velocities correlated remarkably with age. We conclude that FAF is characterized not only by distinct clinical and molecular biological features but also by electrophysiological findings, which enable differentiation from other hereditary amyloidoses. © 1994 John Wiley & Sons, Inc.
AAEM minimonograph #42: Intraoperative monitoring of peripheral and cranial nerves
Authors: Brown William F. , Veitch James 
Published: January 2005

AbstractIntraoperative studies of focal neuropathies have become increasingly common both as an aid to the localization of the neuropathy and a means of monitoring the integrity of the nerve in the course of surgery. Success very often depends on careful attention to the technical problems presented by working in the operating theater. Despite these difficulties, assessment of conduction directly from the exposed nerve offers opportunities for better understanding the pathophysiology of these neuropathies and correlating these findings with conventional electrodiagnostic studies. © 1994 John Wiley & Sons, Inc.
Widenings of the myelin lamellae in a typical Guillain–Barré syndrome
Authors: Vallat J. M. , Leboutet M. J. , Jauberteau M. O. , Tabaraud F. , Couratier P. , Akani F. 
Published: January 2005

AbstractThe so‐called “widenings of the myelin lamellae” are thought to be specific ultrastructural features of peripheral nerve myelin in patients with peripheral neuropathy associated with a monoclonal dysglobulinemia of IgM type and antiglycolipid activity. We report here a case of Guillain–Barré syndrome with no evidence of serum monoclonal dysglobulinemia, presenting the typical widenings of the myelin lamellae in small‐diameter myelinated fibers from a sural nerve biopsy. In view of the positive reaction with anti‐C3d complement on direct immunofluorescence, an immunological mechanism may be involved in the widenings of the myelin lamellae. © 1994 John Wiley & Sons, Inc.
Submaximal stimuli activate different nerve fiber populations at different sites
Authors: Preston David C. , Venkatesh S. , Shefner J. M. , Logician E. L. 
Published: January 2005

AbstractTheoretically, the largest and fastest nerve fibers are preferentially stimulated with submaximal stimuli. However, it is also well known that intraneural fascicular topography changes substantially along a proximal to distal axis. Because of this change in fascicular topography, we hypothesized that percutaneous submaximal stimuli applied to a nerve at different locations would stimulate different subpopulations of large fibers. We performed a series of collision studies by stimulating the ulnar nerve submaximally at proximal and distal sites at varying levels of stimulation intensity from motor threshold to supramaximal stimulation. The results suggest that variation in intraneural topography at different sites allows different large diameter nerve fiber subpopulations to be activated at submaximal stimuli, and emphasizes the importance of supramaximal stimulation to determine a valid conduction velocity. © 1994 John Wiley & Sons, Inc.
Deflazacort in Duchenne dystrophy: Study of long‐term effect
Authors: Angelini C. , Pegoraro E. , Turella E. , Intino M. T. , Pini A. , Costa C. 
Published: January 2005

AbstractA randomized double‐blind controlled trial of deflazacort was conducted in 28 Duchenne muscular dystrophy patients either treated with deflazacort 2.0 mg/kg alternate‐day therapy or placebo. The deflazacort group showed significant improvement in climbing stairs (P < 0.01), in rising from a chair, Gower's maneuver, and walking (P < 0.0025) after 6 months of treatment. After 1 year, all the above changes remained significantly improved and the MRC index was significantly better (P < 0.05) in the treated croup. After 2 years, a significant change was found in the MRC index: higher scores in walking, chair rising (P < 0.02), and grade and time of Gower's maneuver (P < 0.05) were found. The mean time for loss of ambulation for the treated group after we started the trial was 20.5 ± 11 months; for the placebo group it was 33.2 ± 9 months (placebo vs. deflazacort group, P < 0.05). Our treated patients lost their ambulation at a median age of 11.8 years vs. 10.5 years in the placebo group. Side effects were mild, consisting of moderate weight gain and slight behavioral changes. © 1994 John Wiley & Sons, Inc.
Biochemical and immunocytochemical analysis in chronic proximal spinal muscular atrophy
Authors: Hamida Christiane Ben , Soussi‐Yanicostas Nadia , Butler‐Browne Gillian S. , Bejaoui Khemissa , Hentati Fayçal , Hamida Mongi Ben 
Published: January 2005

AbstractImmunocytochemical and biochemical analyses were carried out on patients affected by chronic SMA. Three groups of patients were identified. In group I, the muscle presented a fascicular atrophy; a high percentage of atrophic type II fibers; and fibers expressing fast, slow, embryonic, and fetal myosin isoforms. In group II, the muscle was characterized by atrophic fibers and normal/hypertrophic fibers expressing only slow myosin isoforms. In group III, the muscle was characterized by fiber type grouping and fibers coexpressing fast and slow myosin isoforms but never embryonic or fetal MHC isoforms. The muscles of groups I and III contained both fast and slow myosins whereas group II muscles were predominantly slow by immunocytochemical analysis or only slow by biochemical analysis. In view of these results, immunocytochemical and histochemical analyses could help to classify chronic SMA and help to understand the different pathogenic processes which seem to be related to the maturational stage of the muscle at the age of onset of the disease. © 1994 John Wiley & Sons, Inc.
Sympathetic skin response and R–R interval variation in chronic uremic patients
Authors: Wang Shuu‐Jiun , Liao Kwong‐Kum , Liou Hung‐Hsiang , Lee Shei‐Shee , Tsai Ching‐Piao , Lin Kon‐Ping , Kao Ko‐Pei , Wu Zin‐An 
Published: January 2005

AbstractSympathetic skin response (SSR) and R–R interval variation (RRIV) were studied in 36 chronic, nondiabetic uremics to compare with their nerve conduction studies (NCS) and clinical dysautonomia. Abnormal SSR was noted in 5 (13.9%) patients, abnormal RRIV in 14 (38.9%), and abnormal NCS in 26 (72.2%). The patients were classified into three groups: group (GP) 1: “normal,” n = 21 (58.3%), normal RRIV and SSR; GP 2: “isolated parasympathetic dysfunction,” n = 10 (27.8%), abnormal RRIV and normal SSR; and GP 3: “sympathetic sudomotor dysfunction,” n = 5 (13.9%), abnormal SSR. A significant difference in age was found among the three groups (GP 3 > GP 2 > GP 1; P < 0.0001, ANOVA). After controlling the age factor, we still noted a tendency toward increasing NCS disturbances (distal latency and nerve conduction velocity of peroneal nerve; P < 0.05, multiple regression analysis) and frequencies of clinical autonomic symptoms (postural dizziness and impotence; P < 0.05, Mantel–Hanszel test) from GP 1 to GP 3. Patients with abnormal SSR (GP 3) displayed significantly higher frequencies of postural dizziness and impotence, indicating the relationship between an absence of SSR and clinical dysautonomia. © 1994 John Wiley & Sons, Inc.
Anionic phospholipids calcium binding sites in Duchenne and murine X‐linked muscular dystrophy
Authors: Moggio Maurizio , Prelle Alessandro , Fagiolari Gigliola , Checcarelli Nicoletta , Sciacco Monica , Ciscato Patrizia , Scarlato Guglielmo 
Published: January 2005

AbstractDuchenne muscular dystrophy (DMD) and murine X‐linked muscular dystrophy (mdx) are genetically homologous and both characterized by absence of dystrophin. The function of this protein is not defined nor is the pathogenesis of the severe muscle necrosis and progressive weakness found in DMD but not in mdx. Recently we found that anionic phospholipid (AP) calcium binding sites are lacking at the muscle cell surface in DMD and we correlated these data with dystrophin deficiency and muscle necrosis. In order to verify the role of AP lack in the pathogenesis of muscle necrosis in DMD we studied the ultrastructural localization of these Ca++ receptors in mdx muscle membrane showing that they are normally represented as they are in control mouse and normal human muscle. The absence of AP in DMD compared with a normal distribution in mdx suggests that these calcium binding site alterations play an important and specific role in muscle fiber necrosis. © 1994 John & Sons, Inc.
EMG changes in respiratory and skeletal muscles during isometric contraction under normoxic, hypoxemic, or ischemic conditions
Authors: Badier Monique , Guillot Chantal , Lagier‐Tessonnier Francoise , Jammes Yves 
Published: January 2005

AbstractThe consequences of general hypoxemia (PaO2 = 51 mmHg) on two muscle groups (adductor pollicis and diaphragm) sustaining 80% maximal isometric voluntary contraction were studied in healthy individuals. For adductor pollicis, contractions were also executed after 10−s or 3−min rest ischemia. Compared to control, i.e., normoxic, sustained isometric workloads, significant shortening of endurance time occurred only when adductor pollicis contracted under hypoxemic conditions. In both muscle groups, a 3‐min ischemia test as well as hypoxemia reduced the rate of changes in integrated surface EMG in a low frequency band and lowered, or did not modify, the rate of change in the high above low frequency ratio. Recovery of normal patterns of EMG changes was prolonged only after the adductor pollicis contracted under hypoxemic conditions. The present data show that both hypoxemia and prolonged rest ischemia reduced the rate of changes in quantitative EMG activity, with the more significant effects being measured under hypoxemia. © 1994 John & Sons, Inc.
Variable effect of calcium channel blockers on the decremental response in experimental autoimmune myasthenia gravis
Authors: Wirguin Itzhak , Brenner Talma , Sicsic Camille , Argov Zohar 
Published: January 2005

AbstractWe tested the effect of intravenous administration of verapamil and nimodipine on the decremental response in rabbits with experimental autoimmune myasthenia. Nimodipine produced an immediate augmentation of the decremental response to 3‐Hz nerve stimulation, which lasted about 30 min. In contrast, verapamil caused marked amelioration of the decrement beginning 30 min after injection. Our findings are consistent with previous reports suggesting that verapamil has a presynaptic effect of enhanced acetylcholine release at the neuromuscular junction. Since evaluation of a drug effect in vivo in animals with experimental autoimmune myasthenia gravis may be more pertinent to its effect on patients with myasthenia gravis (MG), verapamil might prove to be safer in MG than nimodipine. However, due to the additional effects of calcium channel blockers, the safety of their use in myasthenia gravis cannot be inferred from the experimental results. © 1994 John & Sons, Inc.
Voluntary contraction and responses to submaximal cervical nerve root stimulation
Authors: Shafiq Ruxsana , Macdonell Richard 
Published: January 2005

AbstractVoluntary contraction of hand muscles increases compound muscle action potential (CMAP) amplitudes evoked by submaximal electrical percutaneous cervical stimulation (EPCS). This has been reported to be due to an intraspinal, presynaptic mechanism. We studied the effects of voluntary contraction on hypothenar CMAP amplitudes in 5 volunteers following electrical peripheral nerve stimulation at the wrist, EPCS, magnetic stimulation at the neck and the effects of a conditioning subthreshold cortical magnetic stimulus on CMAPs evoked by EPCS at rest. CMAP amplitudes increased with voluntary contraction of the target muscle, regardless of type or location of stimulus (P < 0.001). No increase in CMAP amplitude occurred when a conditioning transcranial stimulus was employed with EPCS (P = 0.35). Our findings indicate a peripheral rather than central mechanism underlies this effect of voluntary contraction. It is probably related to the recruitment order of motor axons, comparing voluntary activation with electrical or magnetic stimulation. © 1994 John Wiley & Sons, Inc.
Does forearm mixed nerve conduction velocity reflect retrograde changes in carpal tunnel syndrome?
Authors: Hansson Sture 
Published: January 2005

AbstractThe mixed nerve conduction velocity of the median nerve in the forearm diverged from the motor and sensory nerve conduction velocities and correlated poorly with the severity of carpal tunnel syndrome (CTS) in 61 hands. In contrast, the motor and sensory nerve conduction velocities in the forearm correlated well with CTS severity. The mixed nerve conduction velocity in the forearm is probably determined by nonlesioned fibers such as those from the cutaneous palmar branch of the median nerve. The motor and sensory, but not the mixed nerve conduction velocities in the forearm may be used to estimate possible retrograde impairment in CTS. © 1994 John Wiley & Sons, Inc.
Resetting of essential tremor and postural tremor in Parkinson's disease with transcranial magnetic stimulation
Authors: Pascual‐Leone A. , Valls‐Solé J. , Toro C. , Wassermann E. M. , Hallett M. 
Published: January 2005

AbstractWe studied the effects of transcranial motor cortex stimulation on the electromyographic characteristics of tremor in 9 patients with familial essential tremor and in 12 patients with postural tremor associated with Parkinson's disease. Transcranial magnetic stimulation reset both types of tremor equally. The resetting depended on the stimulus intensity, but was most closely correlated with the duration of the electromyographic silent period that followed the stimulus‐induced motor evoked potential. Tremor resetting was present bilaterally even after focal, unilateral stimulation. Transcranial electrical stimulation failed to reset the tremor in either patient group. These results emphasize the role of central, intracortical structures in the generation of essential tremor and postural tremor in Parkinson's disease. © 1994 John Wiley & Sons, Inc.
Potassium and caffeine contractures of mouse muscles before and after fatiguing stimulation
Authors: Pagala Murali , Ravindran Kadirimangalam , Amaladevi Bellamakonda , Namba Tatsuji , Grob David 
Published: January 2005

AbstractTo assess the impairment of muscle membrane excitation, excitation–contraction (E–C) coupling, and contractility during muscle fatigue, we monitored the contracture responses of resting and fatigued muscles on exposure to high potassium and caffeine. On exposure to 140 mmol/L potassium, mouse extensor digitorum longus (EDL) developed a contracture which was 15.7% of tetanic tension before fatigue and 31.7% after fatigue, while soleus developed 59.4% contracture before and 68.8% after fatigue. Potassium causes contractures by depolarizing the muscle fiber membrane. Hence, membrane excitation is reduced in fatigued EDL and soleus. On exposure to 32 mmol/L caffeine, the contracture was 7.1% in resting EDL, 8.5% in fatigued EDL, 50.1% in resting soleus, and 43.7% in fatigued soleus. On exposure to 1 mmol/L caffeine followed by rapid cooling, the contracture was 3.0% in resting EDL, 3.2% in fatigued EDL, 21.5% in resting soleus, and 10.3% in fatigued soleus. Caffeine causes contracture by releasing Ca+ + from the sarcoplasmic reticulum. Our results indicate reduced E–C coupling attributable to reduced membrane excitation in fatigued EDL, and reduced contractility in fatigued soleus. © 1994 John Wiley & Sons, Inc.