Frequency-dependent conduction block in carpal tunnel syndrome.

Frequency-dependent conduction block (FDB) across segments of demyelination in response to high-frequency nerve stimulation has been well demonstrated in animals and has been explored in humans. However, attempts to demonstrate this phenomenon in sensory fibers involved in entrapment neuropathies have been unsuccessful. Therefore, we investigated the effects of high-frequency nerve stimulation in the median motor nerve in patients with carpal tunnel syndrome (CTS) with moderate to severely increased distal motor terminal latencies (MTL). As a group, the mean decrease in negative peak amplitude (npAmp) during 20 stimuli at 30-HZ frequency was significantly greater in CTS subjects (-11.3%) than in controls (+7.9%). The degree of FDB was greater when MTL was more prolonged (i.e., -4.9% at 5.0 ms and -25.3% at 9.4 ms) and FDB was more pronounced at higher stimulation frequencies (20 and 30 HZ). Our results suggest that the safety margin for impulse transmission is impaired in the motor axons of patients with a focal demyelinating lesion. These findings may correlate with the observation of weakness in the absence of conduction block in patients with entrapment neuropathies.

Decomposition-based quantitative electromyography: effect of force on motor unit potentials and motor unit number estimates.

Decomposition-based quantitative electromyography (DQEMG) allows for the collection of motor unit potentials (MUPs) over a broad range of force levels. Given the size principle of motor unit recruitment, it may be necessary to control for force when using DQEMG for the purpose of deriving a motor unit number estimate (MUNE). Therefore, this study was performed to examine the effect of force on the physiological characteristics of concentric needle- and surface-detected MUPs and the subsequent impact on MUNEs obtained from the first dorsal interosseous (FDI) muscle sampled using DQEMG. Maximum M waves were elicited in 10 subjects with supramaximal stimulation of the ulnar nerve at the wrist. Intramuscular and surface-detected EMG signals were collected simultaneously during 30-s voluntary isometric contractions performed at specific percentages of maximal voluntary contraction (MVC). Decomposition algorithms were used to identify needle-detected MUPs and their individual MU firing times. These MU firing times were used as triggers to extract their corresponding surface-detected MUPs (S-MUPs) using spike-triggered averaging. A mean S-MUP was then calculated, the size of which was divided into the maximum M-wave size to derive a MUNE. Increased levels of contraction had a significant effect on needle- and surface-detected MUP size, firing rate, and MUNE. These results suggest that force level is an important factor to consider when performing quantitative EMG, including MUNEs with this method.

Histopathologically proven poliomyelitis with quadriplegia and loss of brainstem function due to West Nile virus infection.

Recent electrophysiological and histopathological reports point to motor neurons in the anterior horn of the spinal cord and the brainstem as targets of severe West Nile virus (WNV) infection. We report histopathological confirmation of this poliomyelitis-like syndrome in a patient with WNV infection in Massachusetts.

Genotype/Phenotype Correlations in X-Linked Dominant Charcot-Marie-Tooth Disease.

We have studied the relationship between genotype, clinical phenotype, and pathology in 13 families with dominant X-linked Charcot-Marie-Tooth (CMT) neuropathy. Connexin32 (Cx32) gene mutations were spread throughout the coding region and included eight missense mutations, one 8-bp deletion/4-bp insertion frame shifting mutation, two nonsense mutations, and one deletion of the entire coding sequence. One hundred sixteen affected CMTX patients (53 males and 63 females) and 63 unaffected, at-risk individuals were compared by neurological and electrophysiological examinations and analyzed by gender; nerve biopsies were available from seven index cases. It was found that mutations within all regions of the Cx32 gene coding sequence caused an identical clinical phenotype. Male CMTX patients were affected more severely and showed an age-dependent progression of clinical signs and of the pathology; there was, however, variability in the severity of disease expression, irrespective of age, among males within families of defined genotype. All but 10% of female CMTX patients had only mild signs. Motor nerve conduction velocities were moderately slowed (median nerve MNCV: males 34.5 ± 6.2 m/sec; females 45.8 ± 7.3 m/sec), and motor and sensory nerve amplitudes were reduced (median nerve CMAP: males 3.7 ± 3.7 mV; females 7.8 ± 3.4 mV), with electromyographic evidence of chronic denervation. Differences were significant between gender and between affected and unaffected individuals. In agreement with the electrophysiological observations, pathological studies showed evidence of paranodal demyelination and of a length-related axonal degeneration in motor and sensory nerve fibers. Correlations between genotype and clinical phenotype suggested that missense mutations located within the second transmembrane domain and/or cytoplasmic loop might be associated with milder clinical phenotype, and therefore might be less disruptive of Connexin32 gap junction function. Missense, chain-terminating, or deletion mutations in all other locations of the Connexin32 protein caused severe forms of CMTX and disease onset in the first decade. Observed variability of disease severity among males within kinships suggests the influence of other modifying factors.