bluuebunny/crossref_metadata_2025_split huggingface dataset:
Myoclonic epilepsy with ragged‐red fibers (MERRF) syndrome: Report of a Chinese family with mitochondrial DNA point mutation in tRNALys gene
Authors: Fang Wan , Huang Chin‐Chang , Chu Nai‐Shun , Lee Cheng‐Chun , Chen Rou‐Shayn , Pang Cheng‐Yoong , Shih Kwang‐Dar , Wei Yau‐Huei 
Published: January 2005

AbstractWe report myoclonic epilepsy with ragged‐red fibers (MERRF) syndrome in a Chinese family with confirmed mitochondrial DNA point mutation. Six members of the family including the grandmother, two siblings, and three grandchildren were affected. Among them, action myoclonus was seen in five; short stature, muscle weakness, and mental retardation in four; lactic acidosis, hearing impairment, and ataxia in two; and seizures in one. Muscle biopsy from two affected siblings revealed ragged‐red fibers and abundant subsarcolemmal mitochondria with paracrystalline inclusions. Pedigree analysis suggests a maternal transmission. Analysis of mitochondrial DNA showed a point mutation from A to G at the 8344th nucleotide position located in the tRNALys gene. To our knowledge, this is the first report of MERRF syndrome with such genetic defect from a Chinese family. The present and previous reports support the notion that mitochondrial DNA point mutation at the 8344th nucleotide position is the most common cause of MERRF syndrome. © 1994 John Wiley & Sons, Inc.
Autosomal dominant distal myopathy with desmin storage: A clinicopathologic and electrophysiologic study of a large kinship
Authors: Horowitz Steven H. , Schmalbruch Henning 
Published: January 2005

AbstractA large family is described with an autosomal dominant distal myopathy, the nature of which prompts the reevaluation of current classifications of these disorders. The disease begins in early to middle adulthood with gait disturbance due to distal leg weakness, and progresses over 5–10 years to involve all extremities, as well as bulbar, respiratory, and facial muscles. There is frequent cardiac involvement, manifest by arrhythmias, conduction blocks, and congestive failure, resulting in premature demise. On electromyography there is prominent spontaneous activity, short duration motor unit potentials, and polyphasia. Muscle biopsies from multiple family members at different stages of the disease are characterized by desmin storage and autophagocytosis. This distal myopathy differs from other phenotypically similar disorders in its rapidity of progression, fatal course and pathologic features. The role and specificity of excessive desmin accumulation in this and other myopathic and cardiac disorders are unknown. © 1994 John Wiley & Sons, Inc.
H reflex latency in the healthy elderly
Authors: Falco Frank J. E. , Hennessey William J. , Goldberg Gary , Braddom Randall L. 
Published: January 2005

AbstractThe purpose of this study was to evaluate prospectively and analyze the relationship of tibial nerve H reflex latency to age, sex, leg length, and skin temperature in a large healthy elderly population. The H reflex was recorded bilaterally in 92% of 103 carefully screened individuals aged 60–88 years. The mean H reflex latency was 30.8 (SD = 2.6) and 30.7 (SD = 2.6) ms for right and left legs, respectively. A high correlation (r = 0.55, P < 0.05) was present between H reflex latency and leg length. No significant correlation existed for H reflex latency and age. The upper normal limit for the difference between right and left H reflex latencies was 1.8 ms. This limit is greater than that reported in the literature for younger individuals due to a larger standard deviation. These findings suggest that aging increases the between‐leg variability of H reflex latency in individuals. This greater difference must be taken into account when using side‐to‐side H reflex latency comparison to detect unilateral pathology in the elderly. © 1994 John Wiley & Sons, Inc.
Dominant congenital benign spinal muscular atrophy
Authors: Frijns C. J. M. , van Deutekom J. , Frants R. R. , Jennekens F. G. I. 
Published: January 2005

AbstractThe affected members of the family described in this article exhibit congenital nonprogressive atrophy and weakness of lower limb muscles in association with contractures. Clinical and laboratory findings support a dominant lower motor neuron disorder. DNA analysis excluded linkage of the disease with SMA markers on the long arm of chromosome 5. The condition must be differentiated from congenital and infantile SMA, from “arthrogryposis multiplex congenita, distal type,” and from non hereditary types of congenital arthrogryposis. © 1994 John Wiley & Sons, Inc.
Expression of the low‐affinity NGF receptor during human muscle development, regeneration, and in tissue culture
Authors: Baron Pierluigi , Scarpini Elio , Meola Gianni , Santilli Ignazio , Conti Giancarlo , Pleasure David , Scarlato Guglielmo 
Published: January 2005

AbstractThe expression of the low‐affinity NGF receptor (LNGFR) during human muscle development, regeneration, and in tissue culture was analyzed using a murine monoclonal antibody to human LNGFR (MAb ME 20.4). Muscle cells from 12–22‐week fetuses stained strongly for LNGFR. In adult normal muscle, only intramuscular nerve endings showed immunoreactivity with MAb ME 20.4, but no staining was detected in muscle fibers. In Duchenne muscular dystrophy, immunohistologically demonstrable LNGFR was present in regenerating muscle fibers. In these fibers, LNGFR gene expression was also demonstrated at the transcriptional level using in situ hybridization with riboprobes coding with human LNGFR. Cultures from human fetal and adult muscle were studied by double label indirect immunofluorescence microscopy with MAb ME 20.4 and antisera against human fetal myosin. Most myosin‐positive cells, both at the myoblast and myotube stages, displayed surface LNGFR immunostaining. In cells from fetal muscle, LNGFR was detected during the first 2 weeks in vitro, whereas in cells from adult muscle the expression of LNGFR was observed for up to 7 weeks. These findings suggest a potential involvement of LNGFR in human muscle development and regeneration. © 1994 John Wiley & Sons, Inc.
Muscle hypertrophy secondary to the tethered cord syndrome
Authors: Bertorini Tulio , Woodhouse Charles , Horner Linda 
Published: January 2005

AbstractSegmental muscle enlargement occurs in a variety of neurogenic conditions. We present a case with calf hypertrophy, likely produced by partial denervation and continuous neuromuscular irritability, which was caused by a tethered spinal cord that was demonstrated by MRI. Muscle MRI correlated with muscle biopsy findings in which atrophy and hypertrophy were accompanied by rimmed vacuoles. © 1994 John Wiley & Sons, Inc.
Topodiagnostic value of brain stem reflexes
Authors: Hopf Hanns C. 
Published: January 2005

AbstractThe masseter and medial pterygoid stretch reflexes, the masseter inhibitory reflexes, and the blink reflexes are useful diagnostic tools for evaluation of brain stem disorders. The structures mediating these reflexes are largely known. Characteristic changes of the normal response patterns due to various lesions have been described. Distinct reflex abnormalities indicate lesions at specific sites. Multireflex testing improves the accuracy with which localization can be made. A number of lesions suspected on clinical data may be confirmed by reflex findings only and not by imaging studies. Reflex testing can be utilized to demonstrate multiple lesions evoked by a single vascular event and evaluate dissemination of central nervous involvement in multiple sclerosis patients. © 1994 John & Sons, Inc.
What is the best diagnostic index of conduction block and temporal dispersion?
Authors: Oh Shin J. , Kim Doo E. , Kuruoglu H. Reha 
Published: January 2005

AbstractIn order to find the best diagnostic index of conduction block and abnormal temporal dispersion, the amplitude, duration, and area of the compound muscle action potentials (CMAP) were studied in 40 normal controls and 28 patients with acquired demyelinating neuropathies. In the normal subjects, there was a substantial difference among the various nerves in the degree of CMAP amplitude reduction and CMAP duration prolongation with proximal stimulation, and thus different criteria should be used for conduction block or abnormal temporal dispersion for a given nerve. In 28 patients with demyelinating neuropathy, 58 of 207 (28%) tested nerve segments showed nerve conduction velocity (NCV) evidence of demyelination. To identify “demyelination” in these segments, conduction block was best detected by the total area method in 71% of cases, and abnormal temporal dispersion was bast by the negative‐peak duration method. This study showed that the best diagnostic index for conduction block is the total area method and for abnormal temporal dispersion, the negative‐peak duration method. © 1994 John & Sons, Inc.
Sensory neuropathy in infantile onset spinocerebellar ataxia (IOSCA)
Authors: Koskinen Tuula , Sainio Kimmo , Rapola Juhani , Pihko Helena , Paetau Anders 
Published: January 2005

AbstractInfantile onset spinocerebellar ataxia with sensory neuropathy is a new, inherited multisystem disorder discovered in 19 Finnish patients. In order to define the neuropathy of the disease, we measured sensory nerve action potentials and nerve conduction velocities in 18 patients, and recorded somatosensory evoked potentials (SEP) in 10 patients and performed a sural nerve biopsy in 13 patients. The fixed and teased nerve fascicles were examined by light and electron microscopy, and the whole transverse section of a nerve fascicle was photographed and enlarged for morphometric measurements. Our investigation revealed an early onset, rapidly progressive axonal neuropathy: the sensory action potentials were decreased after the age of 2 and a severe loss of mainly large myelinated fibers was found. © 1994 John & Sons, Inc.
Pseudofacilitation: A misleading term
Authors: McComas Alan J. , Galea Victoria , Einhorn Roman W. 
Published: January 2005

AbstractThe possible causes of the transient enlargement of muscle compound action potentials during repetitive stimulation (“pseudofacilitation”) are considered. The phenomenon cannot be due to mechanical artefact, while hypersynchronization of the muscle fiber action potentials, the usual explanation, can only make a minor contribution. A more convincing explanation, for which there is now experimental evidence, is that the muscle fibers undergo hyperpolarization, due to the intramuscular release of norepinephrine and consequent stimulation of the electrogenic Na+, K+‐pump. Defective phosphorylation of the Na+, K+‐pump is a possible cause of the transient weakness and myotonia in myotonic dystrophy. © 1994 John Wiley & Sons, Inc.
Deficits in the function of small and large afferent fibers in confirmed cases of carpal tunnel syndrome
Authors: Goadsby Peter J. , Burke David 
Published: January 2005

AbstractNerve conduction studies and measurements of thermal thresholds (hot and cold) were performed in 25 healthy control subjects and 24 patients with carpal tunnel syndrome: first, to compare the extent of axons; second to correlate these abnormalities with clinical severity;and third to validate a modified from of palmar stimulation as an additional neurophysiological test in suspected carpal tunnel syndrome. The routine nerve conuction studies compared the amplitudes and conduction velocities from digit II and digit V to wrist and for the digit‐II potential between wrist and elbow. With palmar stimulation, the palm‐to‐wrist segment was compared to the simultaneously evoked antidromic digital potential (palm‐to‐index). Thermal threshold testing involved determination of hot and cold thresholds for digit II and digit V using an automated forced‐choice procedure. In the patients there was selective slowing of conduction across the palm‐to‐wrist segment with normal velocities distally and proximally, and there was clear evidence of abnormal small‐fiber function, with higher thresholds for both hot and cold sensation. However, the thermal abnormalities also involved the ulnar territory, equally so for cold threshold but significantly less so for hot threshold. Thermal threshold testing confirmed the clinical impression that small‐fiber dysfunction is important in carpal tunnel syndrome, but the abnormal findings for the ulnar‐innervated digit V suggest that this test will not be routinely useful for the early detection of compression or entrapment neuropathies. © 1994 John Wiley & Sons, Inc.
Elimination of superfluous neuromuscular junctions in rat calf muscles recovering from botulinum toxin–induced paralysis
Authors: Hassan Sherif M. , Jennekens Frans G. I. , Wieneke George , Veldman Henk 
Published: January 2005

AbstractIn order to determine the fate of the superfluous neuromuscular junctions (NMJs) formed during the course of botulinum toxin (BoTx)‐induced paralysis, we have quantified the change in the total length of the nerve muscle contact area(s) following BoTx injection into rat calf muscles. The results indicate that: (1) at least some of the superfluous NMJs are eliminated following muscle recovery; (2) synapse elimination is a slow process, as 4 months after recovery it was not yet complete; (3) muscles with different content of type I and II fibers follow a different time course during synapse formation and elimination. We further investigated the possibility that the neural cell adhesion molecule (NCAM) would be the element whose loss from the NMJ might play a role in synapse elimination. Using immunofluorescence and immuneelectron microscopy we show that NCAM is exclusively localized between nerve terminals and Schwann cells and not between nerve terminals and muscle. This localization was maintained throughout paralysis and following recovery, suggesting that NCAM does not play a role in synapse elimination. © 1994 John Wiley & Sons, Inc.
Tuberculous infection of skeletal muscle in a case of dermatomyositis
Authors: Davidson George S. , Voorneveld Colin R. , Krishnan Nirmala 
Published: January 2005

AbstractA patient with dermatomyositis associated with carcinoma was treated with steroids and antibiotics for possible tuberculosis. Autopsy showed an overwhelming diffuse nongranulomatous infection of Mycobacterium tuberculosis involving only the skeletal muscles and one inguinal lymph node. The rare localization of tuberculosis to skeletal muscle in this case is possibly due to steroid immunosuppression and the humoral immune attack on muscle blood vessels that is a part of dermatomyositis. © 1994 John Wiley & Sons, Inc.
Widespread tissue distribution of multiple mitochondrial DNA deletions in familial mitochondrial myopathy
Authors: Kawashima Shingo , Ohta Shigeo , Kagawa Yasuo , Yoshida Mitsuo , Nishizawa Masatoyo 
Published: January 2005

AbstractWe used Southern blot analysis and the polymerase chain reaction to analyze the tissue distribution of multiple mitochondrial DNA (mtDNA) deletions in a 45‐year‐old man with familial mitochondrial myopathy. Southern blots showed two major types of abnormal mtDNA with approximately 4‐ and 8‐kilobase deletions in the skeletal and extraocular muscles. The amount of muscle mtDNA with deletions correlated approximately with the severity of muscle involvement. The polymerase chain reaction showed multiple mtDNA deletions even in clinically asymptomatic tissues, the pattern of which differed with the type of tissue. Nucleotide sequences of several mtDNAs with deletions showed that the deletions were flanked by direct repeats consisting of 3 to 12 nucleotides. Leukocytes from the patient's affected sister and his mother exhibited the same mtDNA deletion pattern. Most of the same deletions were present in leukocytes obtained from the patient's father. © 1994 John Wiley & Sons, Inc.
Decremental motor responses to repetitive nerve stimulation in ALS
Authors: Killian James M. , Wilfong Angus A. , Burnett Leanne , Appel Stanley H. , Boland Dennis 
Published: January 2005

AbstractRepetitive nerve stimulation (RNS) of the trapezius muscle at slow rates was performed on 192 patients with amyotrophic lateral sclerosis (ALS). Fifty‐six patients (29%) showed classical neuromuscular decrement of 10–43% (mean 16.8%) while 44 patients (23%) had a borderline decrement of 5–9%. The trapezius was significantly more sensitive in revealing the defect than the distal hypothenar muscles. In 30 patients followed serially, the decremental response remained constant or increased with time. However, 25% of patients continued to show no decrement in spite of progression of disease. No statistical correlation was found between decrement and clinical severity, disease staging, or disease progression. The finding that at least 50% of ALS patients show some degree of decrement on RNS of the trapezius muscle suggests that functional alterations of the neuromuscular junction accompany this disease. © 1994 John Wiley & Sons, Inc.
Pediatric median mononeuropathies: A clinical and electromyographic study
Authors: Deymeer Feza , Jones H. Royden 
Published: January 2005

AbstractSeventeen children, 6 girls and 11 boys, aged 5–17 years with pediatric median mononeuropathies (PMM) were identified among 1809 who had EMGs primarily in the electromyographic laboratory at The Children's Hospital, Boston, between 1979 and 1993. Electromyography documented the PMM to be at the wrist in 7 children, including 3 children with idiopathic carpal tunnel syndrome (CTS)—1 whose symptomswere accentuated by skiing—2 with a systemic illness (mucolipidosis III and scleroderma), and in 1 child each the distal PMM was secondary to a cast or laceration. A proximal PMM was identified in 10 children, including 8 with trauma. 1 with an osteoid osteoma, cutaneous mucinosis. Five childron (3 with CTS and 1 each with mucolipidosis III and juvenile cutaneous mucinosis) had bilateral dieases. The localization (59% proximal) and cause of these PMMs differed greatly from our experience with adult median neuropathies. © 1994 John Wiley & Sons, Inc.
Limb girdle muscular dystrophy: Weakness and disease duration as predictors of functional impairment
Authors: Stübgen Joerg‐Patrick , Lahouter Annette 
Published: January 2005

AbstractThis cross‐sectional study compared progressive weakness to functional disability in 20 patients with limb girdle muscular dystrophy. Weakness (assessed by manual muscle testing) determined disability (assessed by functional grades, timed functional tests, and an activities of daily living scale) For any functional grade the degree of weakness varied between patients. Yet, at a certain “threshold” weakness the functional level predictably deteriorated. Change in functional grade did not reflect a parallel increase in weakness nor disease progression. Functional “milestones” were reached at varying durations of disease. Only guidelines were offered to individual patients as to the time course of progression in disability. Serial timed tests should be a sensitive, objective method to follow the rate of disease progression. Timely referral of patients to establish physical needs should delay functional deterioration and minimize handicap despite progressive weakness. © 1994 John Wiley & Sons, Inc.
Clinical, electrophysiological, and myelographic studies of 9 patients with cervical spinal root avulsions: Discrepancies between EMG and X‐ray findings
Authors: Trojaborg W. 
Published: January 2005

AbstractIn traumatic brachial plexus injuries a thorough neurological, electrodiagnostic, and radiological examination is essential to determine treatment and prognosis. The most important diagnostic question concerns the presence or absence of a preganglionic nerve root lesion. Electromyography and motor and sensory conduction studies were performed in 17 patients with traumatic plexus injuries who had myelographic evidence of nerve root avulsion; in 8 of these clinical and electrophysiological features confirmed the X‐ray findings. However, in 9 cases there was a discrepancy between myelographic and neurophysiological data regarding the actual number and sites of roots avulsed. Thus, in 2 cases myelography showed avulsion of one more root than did conduction studies and EMG; in 2 others, there was discordance as to the specific roots avulsed; in 4 cases fewer nerve roots seem to be avulsed radiologically than predicted clinically, and in 1, none at all, although clinical and electrophysiological data were compatible with avulsion of four roots. In 6 cases recovery showed that avulsions indicated by clinical and electrophysiological considerations could not have occurred. When both EMG and myelography are misleading, surgical exploration should be considered. © 1994 John Wiley & Sons, Inc.
Early diagnosis of n‐hexane–caused neuropathy
Authors: Pastore Carlos , Marhuenda Dolores , Marti Juan , Cardona Antonio 
Published: January 2005

Abstractn‐Hexane neuropathy was studied in 20 workers exposed for prolonged periods to this solvent, and with urinary 2, 5‐hexanedione concentrations exceeding the biological exposure index recommended by the American Conference of Governmental Industrial Hygienists (5 mg/L) with a mean of 11.02 mg/L (range 5.3—24.2 mg/L). Although neurological examination did not detect significant anomalies in any of the patients, and the conduction velocity and F waves of all the nerves tested were normal, neurographic studies revealed significant differences in the amplitude of sensory nerve action potentials (SNAP) recorded from the sural (mean 14.0 μV), median (mean 17.3 μV), and ulnar (mean 7.9 μV) nerves when compared with normal values from healthy adults of the same age range, examined under identical conditions. The amplitude of the SNAP in sural and median nerves correlated significantly with the number of years worked. The notable decrease in mean amplitude of the SNAP appeared to reflect the primary neurotoxic effects of 2,5‐hexanedione. © 1994 John Wiley & Sons, Inc.
A method for the longitudinal study of human thenar motor units
Authors: Doherty Timothy J. , Brown William F. 
Published: January 2005

AbstractMethods currently available to study the electrophysiological and contractile properties of single human motor units (MUs) preclude the same MU from being studied on repeated occasions. We have developed a method which allows single thenar MUs to be studied longitudinally. Sites were located along the median nerve where, using percutaneous stimulation, it was possible to selectively activate a single thenar motor axon as determined by: (a) the presence of an “all‐or‐nothing” surface‐detected motor unit action potential (S‐MUAP); (b) the occasional presence of F‐responses identical in size and shape to the direct S‐MUAP; (c) excitation thresholds widely separated from the next highest threshold motor axon so as to allow high frequency stimulation. To ensure that the same motor axon had been located and stimulated in successive studies, additional criteria included: (a) the motor axon was found at approximately the same site along the nerve; (b) the threshold for excitation remained widely separate from the next highest threshold motor axon; (c) the shape of the S‐MUAP was almost identical on repeated studies; (d) S‐MUAP and F‐response latencies were similar. This method provides, for the first time, the ability to track longitudinally the electrical and contractile properties of single MUs in health and during the course and treatment of disease. © 1994 John Wiley & Sons, Inc.