Constitutional risk factors for focal neuropathies in patients referred for electromyography.

BACKGROUND AND PURPOSE: It is well established that patient-related constitutional features predispose to focal peripheral neuropathies. Some of these risk factors were investigated in common focal neuropathies encountered in patients referred for electromyography. METHODS: Gender, age, height and body mass index (BMI) were analysed retrospectively as risk factors for 11 focal neuropathies. In all, 9686 patients (age range 18-96 years; 58% women) were included from three different centres, with identical methods and equipment. RESULTS: High BMI was related to carpal tunnel syndrome (CTS), ulnar neuropathy at the elbow (UNE), combined CTS and UNE, meralgia paraesthetica and lumbar radiculopathy. In women, CTS and Morton's metatarsalgia were more common, whilst long thoracic neuropathies, suprascapular neuropathies and UNE were more common in men. Older age increased the risk for CTS, UNE, Morton's metatarsalgia and radiculopathies. CONCLUSIONS: Age, gender and BMI are important risk factors for many common focal neuropathies.

Neurotransmitters behind pain relief with transcranial magnetic stimulation - positron emission tomography evidence for release of endogenous opioids.

BACKGROUND: Repetitive transcranial magnetic stimulation (rTMS) at M1/S1 cortex has been shown to alleviate neuropathic pain. OBJECTIVES: To investigate the possible neurobiological correlates of cortical neurostimulation for the pain relief. METHODS: We studied the effects of M1/S1 rTMS on nociception, brain dopamine D2 and µ-opioid receptors using a randomized, sham-controlled, double-blinded crossover study design and 3D-positron emission tomography (PET). Ten healthy subjects underwent active and sham rTMS treatments to the right M1/S1 cortex with E-field navigated device. Dopamine D2 and µ-receptor availabilities were assessed with PET radiotracers [11 C]raclopride and [11 C]carfentanil after each rTMS treatment. Thermal quantitative sensory testing (QST), contact heat evoked potential (CHEP) and blink reflex (BR) recordings were performed between the PET scans. RESULTS: µ-Opioid receptor availability was lower after active than sham rTMS (P ≤ 0.0001) suggested release of endogenous opioids in the right ventral striatum, medial orbitofrontal, prefrontal and anterior cingulate cortices, and left insula, superior temporal gyrus, dorsolateral prefrontal cortex and precentral gyrus. There were no differences in striatal dopamine D2 receptor availability between active and sham rTMS, consistent with lack of long-lasting measurable dopamine release. Active rTMS potentiated the dopamine-regulated habituation of the BR compared to sham (P = 0.02). Thermal QST and CHEP remained unchanged after active rTMS. CONCLUSIONS: rTMS given to M1/S1 activates the endogenous opioid system in a wide brain network associated with processing of pain and other salient stimuli. Direct enhancement of top-down opioid-mediated inhibition may partly explain the clinical analgesic effects of rTMS. SIGNIFICANCE: Neurobiological correlates of rTMS for the pain relief are unclear. rTMS on M1/S1 with 11 C-carfentanyl-PET activates endogenous opioids. Thermal and heat pain thresholds remain unchanged. rTMS induces top-down opioid-mediated inhibition but not change the sensory discrimination of painful stimuli.

Peripheral nervous system involvement in primary burning mouth syndrome--results of a pilot study.

OBJECTIVE: The pathophysiology of primary burning mouth syndrome (BMS) has remained enigmatic, but recent studies suggest pathology within the nervous system at multiple levels. This study aimed to investigate in detail the contribution of either focal or generalized alterations within the peripheral nervous system (PNS) in the etiopathogenesis of BMS. SUBJECTS AND METHODS: Intraepithelial nerve fiber density (IENFD) of tongue mucosa was assessed in 10 carefully characterized BMS, and the results were compared to 19 age- and gender-matched cadaver controls, 6 with lifetime diabetes. Extensive neurophysiologic and psychophysical examinations of the trigeminal system and distal extremities were performed to profile PNS function in BMS. RESULTS: Patients with BMS had significantly fewer intraepithelial nerve fibers (0,27, s.e. 0,18 mm(-1); P = 0.0253) than non-diabetic controls (0,92, s.e. 0,15 mm(-1)). In the subepithelial space, the amount of nerve fibers did not differ between the groups. The majority (9/10) of patients with BMS showed neurophysiologic or psychophysical signs of a more generalized PNS dysfunction. CONCLUSIONS: Our results in neurophysiologically optimally characterized BMS patients confirm that pure focal small fiber neuropathy of the oral mucosa has a role in the pathophysiology of primary BMS. Furthermore, BMS may be related to a more generalized, yet subclinical peripheral neuropathy.

Pathophysiology of primary burning mouth syndrome with special focus on taste dysfunction: a review.

Primary burning mouth syndrome (BMS) is a chronic oral condition characterized by burning pain often accompanied with taste dysfunction and xerostomia. The most compelling evidence concerning BMS pathophysiology comes from studies on the somatosensory system using neurophysiologic or psychophysical methods such as blink reflex, thermal quantitative sensory testing, as well as functional brain imaging. They have provided convincing evidence for neuropathic involvement at several levels of the somatosensory system in BMS pain pathophysiology. The number of taste function studies trying to substantiate the subjective taste disturbances or studies on salivary factors in BMS is much more limited, and most of them suffer from definitional and methodological problems. This review aims to critically evaluate the existing literature on the pathophysiology of BMS, paying special attention to the correctness of case selection and the methodology used in published studies, and to summarize the current state of knowledge. Based on the recognition of several gaps in the current understanding of the pathophysiology of BMS especially as regards taste and pain system interactions, the review ends with future scenarios for research in this area.

Electroencephalogram reactivity to verbal command after dexmedetomidine, propofol and sevoflurane-induced unresponsiveness.

Although electroencephalogram reactivity (i.e. transient changes in electrical brain activity following external stimulus) might be useful in depth-of-anaesthesia monitoring, it has not been systematically examined with different anaesthetics at doses titrated to unresponsiveness. Three 10-subject groups of healthy volunteers received dexmedetomidine, propofol or sevoflurane in escalating pseudo-steady-state concentrations at 10-min intervals until they did not open their eyes to command. The electroencephalogram was continuously recorded and spectral variables were calculated with short-time Fourier transform and time-varying autoregressive modelling. Electroencephalogram reactivity was most prominent in the midfrontal derivations (termed F3 and F4). During drug-induced unresponsiveness, electroencephalogram reactivity was still present in all drug groups. Dexmedetomidine, propofol and sevoflurane induced distinct suppression patterns on the electroencephalogram reactivity at the same clinical endpoint (unresponsiveness). Reactivity was best maintained with propofol, while only minimally preserved with dexmedetomidine and sevoflurane. Thus, it may be difficult to harness reactivity for depth-of-anaesthesia monitoring.

An update on pathophysiological mechanisms related to idiopathic oro-facial pain conditions with implications for management.

Chronic oro-facial pain conditions such as persistent idiopathic facial pain (PIFP), atypical odontalgia (AO) and burning mouth syndrome (BMS), usually grouped together under the concept of idiopathic oro-facial pain, remain a diagnostic and therapeutic challenge. Lack of understanding of the underlying pathophysiological mechanisms of these pain conditions is one of the important reasons behind the problems in diagnostic and management. During the last two decades, neurophysiological, psychophysical, brain imaging and neuropathological methods have been systematically applied to study the trigeminal system in idiopathic oro-facial pain. The findings in these studies have provided evidence for neuropathic involvement in the pathophysiology of PIFP, AO and BMS. The present qualitative review is a joint effort of a group of oro-facial pain specialists and researchers to appraise the literature on idiopathic oro-facial pain with special focus on the currently available studies on their pathophysiological mechanisms. The implications of the findings of these studies for the clinical diagnosis and treatment of idiopathic oro-facial pain conditions are discussed.

Wide inter-individual variability of bispectral index and spectral entropy at loss of consciousness during increasing concentrations of dexmedetomidine, propofol, and sevoflurane.

BACKGROUND: The bispectral index (BIS) and the spectral entropy (state entropy, SE, and response entropy, RE) are depth-of-anaesthesia monitors derived from EEG and have been developed to measure the effects of anaesthetics on the cerebral cortex. We studied whether they can differentiate consciousness from unconsciousness during increasing doses of three different anaesthetic agents. METHODS: Thirty healthy male volunteers aged 19-30 yr were recruited and divided into three 10-volunteer groups to receive either dexmedetomidine, propofol, or sevoflurane in escalating concentrations at 10 min intervals until loss of consciousness (LOC) was reached. Consciousness was tested at 5 min intervals and after drug discontinuation at 1 min intervals by requesting the subjects to open their eyes. LOC was defined as unresponsiveness to the request and pre-LOC as the last meaningful response. The first meaningful response to the request after drug discontinuation was defined as regaining of consciousness (ROC). For the statistical analysis, pre-LOC and ROC values were pooled to represent the responsive state while LOC values represented the unresponsive state. Prediction probability (P(K)) was estimated with the jack-knife method. RESULTS: The lowest mean values for BIS, SE, and RE were recorded at LOC with all three drugs. The P(K) values were low for dexmedetomidine (BIS 0.62, SE 0.58, RE 0.59), propofol (BIS 0.73, SE 0.72, RE 0.72), and sevoflurane (BIS 0.70, SE 0.52, RE 0.62). CONCLUSIONS: Because of wide inter-individual variability, BIS and entropy were not able to reliably differentiate consciousness from unconsciousness during and after stepwise increasing concentrations of dexmedetomidine, propofol, and sevoflurane.

Guidelines and recommendations for assessment of somatosensory function in oro-facial pain conditions--a taskforce report.

The goals of an international taskforce on somatosensory testing established by the Special Interest Group of Oro-facial Pain (SIG-OFP) under the International Association for the Study of Pain (IASP) were to (i) review the literature concerning assessment of somatosensory function in the oro-facial region in terms of techniques and test performance, (ii) provide guidelines for comprehensive and screening examination procedures, and (iii) give recommendations for future development of somatosensory testing specifically in the oro-facial region. Numerous qualitative and quantitative psychophysical techniques have been proposed and used in the description of oro-facial somatosensory function. The selection of technique includes time considerations because the most reliable and accurate methods require multiple repetitions of stimuli. Multiple-stimulus modalities (mechanical, thermal, electrical, chemical) have been applied to study oro-facial somatosensory function. A battery of different test stimuli is needed to obtain comprehensive information about the functional integrity of the various types of afferent nerve fibres. Based on the available literature, the German Neuropathic Pain Network test battery appears suitable for the study of somatosensory function within the oro-facial area as it is based on a wide variety of both qualitative and quantitative assessments of all cutaneous somatosensory modalities. Furthermore, these protocols have been thoroughly described and tested on multiple sites including the facial skin and intra-oral mucosa. Standardisation of both comprehensive and screening examination techniques is likely to improve the diagnostic accuracy and facilitate the understanding of neural mechanisms and somatosensory changes in different oro-facial pain conditions and may help to guide management.

Kalman smoother based time-varying spectrum estimation of EEG during single agent propofol anesthesia.

A time-varying parametric spectrum estimation method for analyzing EEG dynamics is presented. EEG signals are first modeled as a time-varying auto-regressive stochastic process and the model parameters are estimated recursively with a Kalman smoother algorithm. Time-varying spectrum estimates are then obtained from the estimated parameters. The proposed method was applied to measurements collected during low dose propofol anesthesia. The method was able to detect changes of event related (de)synchronization type elicited by verbal command.

Acoustic and neurophysiologic observations related to lingual nerve impairment.

The purpose of this study was to determine the acoustic effects of lingual nerve impairment on speech. Neurophysiologic examination and thermal quantitative sensory testing (QST) were carried out to determine if the profile, type or severity of sensory nerve impairment had effects on the degree of speech changes. The study group consisted of 5 women and 5 men with lingual nerve damage following an oral and maxillofacial surgery procedure. Time interval between the examination and the nerve damage ranged from 1 month to 20 years. Formants and fundamental frequency and duration of vowel sounds were analyzed. The patients underwent sensory tests, blink reflex and thermal QST of the lingual nerve area. The lingual nerve impairment had effects on the central acoustic features of vowel sounds. A relationship was observed between warm detection threshold values and the magnitude of second formant changes in men. It is concluded that lingual nerve impairment has gender-specific effects on speech. The variability in the acoustic changes of vowel sounds between different patients indicates individual compensatory manners of speech production following lingual nerve impairment.

Electroencephalogram spindle activity during dexmedetomidine sedation and physiological sleep.

BACKGROUND: Dexmedetomidine, a selective alpha(2)-adrenoceptor agonist, induces a unique, sleep-like state of sedation. The objective of the present work was to study human electroencephalogram (EEG) sleep spindles during dexmedetomidine sedation and compare them with spindles during normal physiological sleep, to test the hypothesis that dexmedetomidine exerts its effects via normal sleep-promoting pathways. METHODS: EEG was continuously recorded from a bipolar frontopolar-laterofrontal derivation with Entropy Module (GE Healthcare) during light and deep dexmedetomidine sedation (target-controlled infusions set at 0.5 and 3.2 ng/ml) in 11 healthy subjects, and during physiological sleep in 10 healthy control subjects. Sleep spindles were visually scored and quantitatively analyzed for density, duration, amplitude (band-pass filtering) and frequency content (matching pursuit approach), and compared between the two groups. RESULTS: In visual analysis, EEG activity during dexmedetomidine sedation was similar to physiological stage 2 (S2) sleep with slight to moderate amount of slow-wave activity and abundant sleep spindle activity. In quantitative EEG analyses, sleep spindles were similar during dexmedetomidine sedation and normal sleep. No statistically significant differences were found in spindle density, amplitude or frequency content, but the spindles during dexmedetomidine sedation had longer duration (mean 1.11 s, SD 0.14 s) than spindles in normal sleep (mean 0.88 s, SD 0.14 s; P=0.0014). CONCLUSIONS: Analysis of sleep spindles shows that dexmedetomidine produces a state closely resembling physiological S2 sleep in humans, which gives further support to earlier experimental evidence for activation of normal non-rapid eye movement sleep-promoting pathways by this sedative agent.

Assessing the depth of dexmedetomidine-induced sedation with electroencephalogram (EEG)-based spectral entropy.

BACKGROUND: Adequate sedation of critically ill patients improves the outcome of intensive care. Maintaining an optimal level of sedation in the intensive care unit (ICU) is difficult because of a lack of appropriate monitoring methods to guide drug dosing. Dexmedetomidine, a selective alpha(2)-adrenoceptor agonist, has recently been introduced for the sedation of ICU patients. This study investigated the utility of electroencephalogram (EEG)-based spectral entropy monitoring (with M-ENTROPY, GE Healthcare, Helsinki, Finland) for the assessment of dexmedetomidine-induced sedation. METHODS: Eleven healthy, non-smoking men, aged 23.9 +/- 2.5 years (mean +/- standard deviation), were recruited. Spectral entropy was recorded before and during low (0.5 ng/ml) and high (5 ng/ml) plasma concentrations of dexmedetomidine. At the end of the infusion, subjects were awakened by verbal command and light shaking. RESULTS: Spectral entropy decreased from 84 +/- 5 to 66 +/- 16 (P= 0.029) during low dexmedetomidine levels and from 84 +/- 5 to 20 +/- 12 (P < 0.001) during high dexmedetomidine levels. Transitions during loss and regaining of consciousness were analysed separately. Entropy decreased from 76 +/- 8 before to 43 +/- 10 (P < 0.001) after loss of consciousness, and increased from 14 +/- 4 to 63 +/- 13 (P < 0.001) on regaining of consciousness. These changes were consistent across all subjects. Prediction probability and sensitivity values indicated a high predictive performance of the method. CONCLUSION: The depth of dexmedetomidine-induced sedation can be monitored with EEG-based spectral entropy. These results should be confirmed in a clinical setting.

Increase in high frequency EEG activity explains the poor performance of EEG spectral entropy monitor during S-ketamine anesthesia.

OBJECTIVE: To study the effects of S-ketamine on the EEG and to investigate whether spectral entropy of the EEG can be used to assess the depth of hypnosis during S-ketamine anesthesia. METHODS: The effects of sub-anesthetic (159 (21); mean (SD) ng/ml) and anesthetic (1,959 (442) ng/ml) serum concentrations of S-ketamine on state entropy (SE), response entropy (RE) and classical EEG spectral power variables (recorded using the Entropy Module, GE Healthcare, Helsinki, Finland) were studied in 8 healthy males. These EEG data were compared with EEG recordings from 6 matching subjects anesthetized with propofol. RESULTS: The entropy values decreased from the baseline SE 85 (3) and RE 96 (3) to SE 55 (18) and RE 72 (17) during S-ketamine anesthesia but both inter- and intra-individual variation of entropy indices was wide and their specificity to indicate unconsciousness was poor. Propofol induced more pronounced increase in delta power (P<0.02) than S-ketamine, whereas anesthetic S-ketamine induced more high frequency EEG activity in the gamma band (P<0.001). Relative power of 20-70 Hz EEG activity was associated with high SE (P=0.02) and RE (P=0.03) values during S-ketamine anesthesia. CONCLUSIONS: These differences in low and high frequency EEG power bands probably explain why entropy monitor, while adequate for propofol, is not suitable for assessing the depth of S-ketamine anesthesia. SIGNIFICANCE: The entropy monitor is not adequate for monitoring S-ketamine-induced hypnosis.

Correlation of EEG spectral entropy with regional cerebral blood flow during sevoflurane and propofol anaesthesia.

ENTROPY index monitoring, based on spectral entropy of the electroencephalogram, is a promising new method to measure the depth of anaesthesia. We examined the association between spectral entropy and regional cerebral blood flow in healthy subjects anaesthetised with 2%, 3% and 4% end-expiratory concentrations of sevoflurane and 7.6, 12.5 and 19.0 microg.ml(-1) plasma drug concentrations of propofol. Spectral entropy from the frequency band 0.8-32 Hz was calculated and cerebral blood flow assessed using positron emission tomography and [(15)O]-labelled water at baseline and at each anaesthesia level. Both drugs induced significant reductions in spectral entropy and cortical and global cerebral blood flow. Midfrontal-central spectral entropy was associated with individual frontal and whole brain blood flow values across all conditions, suggesting that this novel measure of anaesthetic depth can depict global changes in neuronal activity induced by the drugs. The cortical areas of the most significant associations were remarkably similar for both drugs.

Recovery of somatosensory deficits in acute stroke.

OBJECTIVES: To study the recovery of somatosensory deficits after acute stroke. MATERIAL AND METHODS: A detailed clinical examination of sensation, median nerve somatosensory evoked potentials (SEP), quantitative sensory tests (QST), and subjective evaluation were performed in five acute stroke patients at three control time points up to 12 months after the stroke. RESULTS: The deficit recovered at least partially in all patients, mostly within 3 months after stroke. The improvement in warm and vibration detection thresholds occurred between 3 and 12 months. The SEP improved both by 3 and 12 months. CONCLUSION: The recovery of subjective sensory disturbance occurred in line with the improvement of the clinical sensory tests and QST. The most sensitive measure for somatosensory dysfunction at the early phase was graphesthesia. In our patients, initially normal SEP with a sensory deficit resulted in excellent clinical recovery, whereas initially absent SEP did not necessarily predict poor outcome.

Sensory regeneration following intraoperatively verified trigeminal nerve injury.

OBJECTIVE: To follow recovery of sensory function mediated by both myelinated and unmyelinated axons in relation to the type of inferior alveolar nerve (IAN) injury. METHODS: The authors assessed the function of afferent Abeta-, Adelta-, and C-fibers of the IAN using neurophysiologic (mental nerve blink reflex, sensory nerve conduction [NCS] of the IAN) and quantitative sensory tests (QST; cold, warm, heat pain, and tactile modalities). The tests were done 2 weeks, 1, 3, 6, and 12 months postoperatively and compared to the preoperative baseline in 20 patients undergoing mandibular bilateral sagittal split osteotomy. Nineteen patients underwent intraoperative monitoring. RESULTS: In primarily demyelinating injuries (21/40 nerves), the sensory alteration and all tests normalized on the group level within the first 3 months. After partial axonal lesions (15/40 nerves), neurophysiologic and thermal QST results remained abnormal at 1-year control in a high proportion of the IAN distributions (up to 67%). At 1 year, the tactile QST was abnormal in 40%, but the NCS in 87% of the symptomatic IAN distributions. Neuropathic pain occurred in 5% of the patients, only after severe axonal damage. CONCLUSIONS: Sensory nerve conduction and thermal quantitative sensory testing showed incomplete sensory regeneration at 1 year after axonal trigeminal nerve damage. Clinical examination with tactile quantitative sensory testing was less reliable in the follow-up of sensory recovery. Sensory Abeta-, Adelta-, and C-fibers recovered function at similar rates. The trigeminal nerve does not differ from other peripheral nerves as regards susceptibility to neuropathic pain.

Recovery of nerve injury after mandibular sagittal split osteotomy. Diagnostic value of clinical and electrophysiologic tests in the follow-up.

The diagnostic value of several clinical, quantitative sensory tests (brush-stroke directional discrimination (BSD), touch detection threshold (TD), warm/cold (W/C) and sharp/blunt discrimination (S/B)), and electrophysiologic tests (mental nerve blink reflex (BR), nerve conduction study (NCS), cold (CDT), and warm (WDT) detection thresholds) in the recovery of inferior alveolar nerve (IAN) injury was evaluated in a prospective 1-year follow-up study of 20 patients after bilateral sagittal split osteotomy (BSSO). The subjective sensory alteration was assessed from patients' drawings. The predictive values of different tests at 2 weeks were determined in relation to the subjective sensory recovery at 12 months. The most pronounced recovery of the nerve damage occurred during the first 3 months according to all measures used. After 3 months, the electrophysiologic tests, especially the NCS, indicated significant further improvement. Except for the TD test, all other clinical test results were normal already at 3 months postoperatively. At early and late controls, the NCS and the thermal quantitative sensory testing could best verify the subjective sensory alteration, and most accurately assess the degree of thick and thin fibre dysfunction. At 1 year, the nerve dysfunction, as revealed by the NCS, corresponded with the figures of sensory alteration reported by the patients (35% R, 40% L). The W/C, BSD, S/B and WDT tests had the best early positive predictive values. Electrophysiologic tests had higher negative predictive values compared to clinical tests.

Sevoflurane is epileptogenic in healthy subjects at surgical levels of anesthesia.

OBJECTIVE: To investigate EEG effects of three escalating concentrations of sevoflurane and propofol in single-agent anesthesia on healthy subjects. METHODS: Four-channel EEG was continuously recorded at 1, 1.5, and 2 minimum alveolar concentration (MAC)/effective plasma concentration 50 (EC50) levels of either sevoflurane or propofol anesthesia in 16 men, 8 subjects in each group. Each concentration level lasted for 30 minutes. EEG was first visually analyzed. In quantitative EEG analysis, the 95% spectral edge frequency (SEF95) and peak frequency (PF) were determined after fast Fourier transformation. RESULTS: Epileptiform discharges occurred in all eight subjects at 1.5 and 2 MAC levels of sevoflurane anesthesia. Three subjects showed electrographic seizures at 2 MAC level, in one case accompanied with clinical seizures despite muscle relaxation. Propofol did not produce remarkable epileptiform EEG phenomena at any level of anesthesia. Suppression and slowing of EEG activity were evident for both drugs with increasing concentration. Owing to the high incidence of epileptiform events in the sevoflurane group at 1.5 and 2 MAC, the SEF95 and PF values were higher (p < 0.001) compared with propofol. Within the sevoflurane group, these values were higher at the 2 than at the 1.5 MAC level (p values ranged between <0.001 and 0.019). CONCLUSIONS: Sevoflurane consistently produces epileptiform discharges and is dose dependently epileptogenic at surgical levels of anesthesia.

An evaluation of clinical and electrophysiologic tests in nerve injury diagnosis after mandibular sagittal split osteotomy.

The yield of clinical sensory tests and electrophysiologic tests in the diagnostics of inferior alveolar nerve (IAN) damage after bilateral sagittal split osteotomy (BSSO) was studied. The diagnostic value of these tests was evaluated by comparing the test results to the degree of nerve damage at the end of the operation as documented by means of the intraoperative nerve conduction recording of the IAN. Twenty patients undergoing BSSO were analysed preoperatively and 2 weeks postoperatively. The frequency of the IAN disturbance ranged from 10% to 94% depending on the test method and the test site used. Of the clinical sensory tests, the touch detection threshold (TD) test was the most sensitive and clinically useful test. It also correlated best with the electrophysiologically verified intraoperative nerve damage (R = -0.603, P = 0.017 on the right, R = -0.626, P = 0.01 on the left). The blink reflex and quantitative cold detection threshold tests were almost as often abnormal as the TD-test, but nerve conduction study (NCS) was the most sensitive (88%) of all clinical and electrophysiologic tests. The frequency of abnormal findings in the electrophysiologic tests indicating IAN injury, 75% on the right side and 90% on the left side, corresponded exactly with the figures of subjective sensory alteration. Almost all electrophysiologic tests showed obvious associations with the objectively verified IAN damage. All tests, except the NCS, showed only moderate sensitivity. Specificity of the tests was generally high, the only exceptions being the TD test and the NCS. To increase the diagnostic accuracy of the testing and to detect different types of damage in different nerve fibre populations, a combination of different sensory and electrophysiologic tests is recommended.

Peripheral nervous system in gyrate atrophy of the choroid and retina with hyperornithinemia.

OBJECTIVE: To evaluate peripheral nervous system involvement in gyrate atrophy of the choroid and retina with hyperornithinemia (GA). BACKGROUND: GA is an inborn error of amino acid metabolism caused by mutations in the enzyme ornithine aminotransferase. Patients with GA have hyperornithinemia, progressive centripetal loss of vision, minor CNS abnormalities, and type II muscle fiber atrophy with accumulation of tubular aggregates. The authors previously showed that muscle and brain creatine stores are depleted in the patients with GA. METHODS: The authors searched evidence of peripheral nervous involvement in 40 patients with GA (mean age 31.6 +/- 16.3 years; range 5 to 74 years) by using neurography, quantitative sensory threshold testing, and evoked potential testing. RESULTS: Neurography revealed abnormalities in 21 (53%) of the patients. The abnormalities associated with the severity of the ophthalmologic changes and the age of the patients. With quantitative sensory threshold testing, abnormal large-fiber function was found in seven (18%) and abnormal small-fiber function was found in four (10%) patients. Somatosensory evoked potential and brainstem auditory evoked potential responses were abolished in five patients. CONCLUSIONS: These findings of peripheral nervous system involvement in GA suggest that GA is a systemic disease affecting not only CNS but also the peripheral nervous system.