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We performed a prospective multicenter case-control study to explore the association between ulnar neuropathy at elbow (UNE) and body and elbow anthropometric measures, demographic and lifestyle factors, and comorbidities. Cases and controls were consecutively enrolled among subjects admitted to four electromyography labs. UNE diagnosis was made on clinical and neurographic findings. The control group included all other subjects without signs/symptoms of ulnar neuropathy and with normal ulnar nerve neurography. Anthropometric measurements included weight, height, waist, hip circumferences, and external measures of elbow using a caliper. The participants filled in a self-administered questionnaire on personal characteristics, lifestyle factors, and medical history. We estimated odds ratios (ORs) and 95% confidence intervals (CIs) by fitting unconditional logistic regression models adjusted by center and education level. We enrolled 220 cases (males 61.8%; mean age 51.7 years) and 460 controls (47.4% males; mean age 47.8 years). At multivariable analysis, UNE was associated to male gender (OR = 2.4, 95%CI = 1.6-3.7), smoking habits (>25 pack-years (OR = 2.3, 95%CI = 1.3-4.1), body mass index (OR = 1.05, 95%CI 1.01-1.10), polyneuropathies (OR = 4.1, 95%CI 1.5-11.5), and leaning with flexed elbow on a table/desk (OR = 1.5, 95%CI 1.0-2.2). Cubital groove width (CGW) turned out to be negatively associated with UNE (OR = 0.80, 95%CI = 0.74-0.85). Our study suggests that some personal factors especially anthropometric measures of the elbow may play a role in UNE pathogenesis as the measures of wrist in CTS. We demonstrated that for each millimeter of smaller CGW the risk of idiopathic UNE increases of 25%.

Introduction In this study we collected reference values for the across-tarsal-tunnel conduction of the motor tibial nerve (mTN). Methods The mTN compound muscle action potentials (CMAPs) from the abductor hallucis muscle were obtained by stimulating below/above the malleolus and the popliteal fossa. The effect of weight, height, body mass index (BMI), foot and leg length, sex, and age were evaluated using univariate and multivariate correlation analyses, and predictive equations for each mTN conduction parameter were developed. Results On the basis of data from 185 subjects, there were differences between women and men in all anthropometric parameters and for some nerve conduction values. Through multivariate analysis, age, but not sex, was found to have a significant impact. Height affected both distal and proximal conduction velocity. BMI affected CMAP amplitude. Discussion mTN conduction is influenced by various demographic and anthropometric factors. For all intrinsic factors, height demonstrated the greatest effect on mTN conduction across the tarsal tunnel.

Objectives To evaluate sensitivity, specificity and predictive values of sensory findings in ulnar neuropathy at the elbow (UNE), differences according to UNE localization and pathophysiology, and relation between the sites of sensory symptoms, abnormal evaluation of sensation and neurographic findings of ulnar sensory nerve. Methods Hand diagram and Semmes-Weinstein monofilaments were used for clinical evaluation in four ulnar hand territories. Sensory neurography was measured in the fourth and fifth digits-wrist segments (U5) and in the dorsal ulnar cutaneous nerve. Results We enrolled 75 idiopathic UNE cases and 180 controls. Symptoms in the fifth digit, reduction of touch sensation and U5 sensory nerve action potential amplitude (SNAPa) had the highest sensitivity, specificity and predictivity in UNE diagnosis. The normal/abnormal sensory clinical findings of the fifth digit matched with normal/abnormal U5 SNAP more than the matching of sensory parameters in the other ulnar hand sites. Sensory anomalies were more frequent in predominantly axonal than demyelinating UNE. There were no differences according to UNE location. Conclusion Sensory anomalies of the fifth digit are constant findings in UNE more than anomalies of the other ulnar nerve hand regions. Significance Probably the fascicles from fifth digit are the most liable to damage at elbow.

Objective: To study the diagnostic properties of hand/wrist and body measures according to validated clinical and electrophysiological carpal tunnel syndrome (CTS) severity scales. Methods: We performed a prospective case-control study. For each case, two controls were enrolled. Two five-stage clinical and electrophysiological scales were used to evaluate CTS severity. Anthropometric measurements were collected and obesity indicators and hand/wrist ratios were calculated. Area under the receiver operating characteristic curves (AUC), sensitivity, specificity, and likelihood ratios were calculated separately by gender. Results: We consecutively enrolled 370 cases and 747 controls. The wrist-palm ratio, waist-hipheight ratio and waist-stature ratio showed the highest proportion of cases with abnormal values in the severe stages of CTS for clinical and electrophysiological severity scales in both genders. Accuracy tended to increase with CTS severity for females and males. In severe stage, most of the indexes presented moderate accuracy in both genders. Among subjects with severe CTS, the wrist-palm ratio presented the highest AUC for hand measures in the clinical and electrophysiological severity scales both in females (AUC 0.83 and 0.76, respectively) and males (AUC 0.91 and 0.82, respectively). Among subjects with severe CTS, the waist-stature ratio showed the highest AUC for body measures in the clinical and electrophysiological severity scales both in females (AUC 0.78 and 0.77, respectively) and males (AUC 0.84 and 0.76, respectively). The results of waist-hip-height ratio AUC were similar. Conclusions: Wrist-palm ratio, waist-hip-height ratio and waist-stature ratio could contribute to support the diagnostic hypothesis of severe CTS that however has to be confirmed by nerve conduction study.

Although the knee jerk reflex is mediated by the L3 and L4 nerve roots, evidence exists that altered knee jerk expression may occur with exclusively L5 radiculopathy. The present study set out to identify the factors responsible for knee jerk reflex abnormalities in L5 monoradiculopathy. We analyzed clinical and electrophysiological data in 56 subjects affected by L5 monoradiculopathy. Seventeen patients (30.3%) showed an abnormal knee reflex. L5 patients with an abnormal knee reflex differed significantly, in severity of pretibial muscle damage, from those with a normal knee reflex. On the basis of evidence, in humans, of a specific spinal pathway linking the pretibial and quadriceps muscles, we infer that an impairment of the proprioceptive drive from the pretibial muscles to spinal premotor excitatory interneurons contacting quadriceps motor neurons is the main causative factor responsible for reducing knee jerk expression. This mechanism should be considered to avoid misinterpretation of knee jerk reflex changes in lumbar radiculopathies.

OBJECTIVE: To identify optimal cutoff values for body, hand, and wrist measurements in order to correctly identify individuals with carpal tunnel syndrome (CTS), using receiver operating characteristic (ROC) curves. METHODS: We enrolled patients with CTS and control subjects at a 1:2 ratio, regardless of age and sex. The diagnosis of CTS was based on clinical findings and delayed distal conduction velocity of the median nerve. The anthropometric measurements included weight, height, waist circumference, hip circumferences, wrist depth/width, third digit length, and palm length/width. Obesity indicators and hand/wrist ratios were calculated. Area under the ROC curve (AUC), sensitivity, specificity, and likelihood ratios were calculated separately according to sex. To assess the role of multiple anthropometric measurements, we fit multivariable logistic regression models including age, wrist ratio, shape index, body mass index, and waist-to-hip ratio. RESULTS: The study group comprised 1,117 subjects (250 female patients and 474 female controls; 120 male patients and 273 male controls). In women, the accuracy of all anthropometric measures was low (AUC ≤0.64). In men, the accuracy of the hand ratio, shape index, and wrist-to-palm ratio was moderate (AUC = 0.75). The estimates from the multivariable models confirmed the well-known associations between the selected variables and the risk of CTS, but the use of multiple predictors did not dramatically improve the diagnostic performance observed for single anthropometric indexes. CONCLUSION: In clinical practice, the cutoff values for many anthropometric measurements have limited value as tools for the diagnosis of CTS.

Background The association between carpal tunnel syndrome (CTS) and high body mass index (BMI) and some hand measures is well known. No study has been specifically focused on waist circumference (WC) and waist-to-hip-ratio (WHR). The aim of this prospective case–control study is to evaluate the association between CTS and WC, WHR and other body and hand anthropometric measures. Methods We consecutively enrolled one “idiopathic” CTS case for two controls in 3 outpatient electromyography labs. The main anthropometric measures were BMI, WC, WHR, wrist ratio (WR) and hand ratio (HR). We performed univariate and multivariate analyses. Results Female cases and controls were 250 and 474 and male cases and controls were 120 and 273, respectively. At univariate analysis there were differences in many anthropometric measures between cases and controls. At multivariate logistic regression analyses high BMI, WC and WHR and abnormal HR and WR were independent risk factors for CTS. Crossing two categories between BMI, WC and WHR, the overweight subjects, especially females, were at risk only if they had very high WC or high WHR. The risk increased if they were obese. Conclusions High WC/WHR doubles the risk of CTS, the risk further increased if overweight/obese subjects have also very high WC or high WHR. The obese subjects were always at risk regardless of WC and WHR values. Metabolic causes of this association with CTS were hypothesised. BMI is not the only and most powerful body predictor of “idiopathic” CTS, but also WHR and WC should be considered. These measures may not be interchangeable and it may be desirable to consider the utility of their joint use.

There are no studies regarding the course leading to carpal tunnel syndrome (CTS) diagnosis and factors influencing the diagnostic process. The study aim is to analyse CTS diagnostic path assessing whether the type of physician (general practitioners or specialist) may influence the manner and timing of diagnosis, and whether CTS severity at diagnosis may be predicted by factors related to Public Health Service and/or to patient. A medical history form was filled in by 375 consecutive patients with idiopathic CTS enrolled at an electromyography service. The patient answered a self-administered questionnaire on symptom severity and the neurophysiologist quantified clinical and electrophysiological CTS severity. The patients going directly to general practitioner were older and more blue collars, had minor education level, more symptom duration, more clinical and electrophysiological severity, more medical examination numbers, more time elapsing between first visit to a doctor and referral for EMG than those going to a specialist. But all variables are interrelated and when multivariate logistic regression analyses were performed, only patient age and some other few independent variables related to patient or health care but not to referring doctor could predict CTS severity at the diagnosis. Typology of the first doctor did not influence diagnostic path. The patients should reduce the time elapsing between CTS symptom onset and consulting doctor thus, permitting early treatments. Some corrective actions on diagnostic path may concern the public health service by reducing waiting lists to perform electrodiagnostic testing and giving greater information to population at risk.

Pain is a subjective condition that cannot be objectively measured; for this reason, self patient-perspective is crucial. Recently, several screening tools to discriminate between nociceptive and neuropathic pain have been developed. We aimed at assessing the consistence and discrepancy of two widely used screening tools, The Douleur Neuropathique 4 (DN4) and the 6-item questionnaire (ID-Pain), by comparing their ability in discriminating neuropathic from nociceptive pain. DN4 and ID-Pain were administered to 392 Italian patients attending 16 outpatient services for peripheral nerve diseases. Based on medical history, clinical findings and diagnostic tools, patients were divided into two groups (neuropathic and nociceptive). Globally, ID-Pain identified neuropathic pain in 60 % of patients (38 % probable, 22 % likely). Interestingly also DN4 diagnosed neuropathic pain in 60 % of cases. A discrepancy was observed in 16 % of cases. DN4 and ID-Pain resulted to be highly interrelated in the identification of neuropathic pain. Sensitivity of DN4 was 82 % and specificity was 81 %, while ID-Pain (considering both probable and likely groups) showed sensitivity 78 % and specificity 74 %. Reliable screening tools for neuropathic pain are well related between them; hence, they are available for researchers and clinicians who may choose the most appropriate for their activity. Since the gold standard for the diagnosis and treatment of neuropathic pain cannot do without a neurological evaluation, perhaps DN4, that includes physician objective measures, may help reducing the percentage of dubious cases. Conversely, when needing a more agile tool (not needing a physician) ID-Pain may be adopted.

Background Local corticosteroid injection for carpal tunnel syndrome (CTS) provides greater clinical improvement in symptoms one month after injection compared to placebo but significant symptom relief beyond one month has not been demonstrated and the relapse of symptoms is possible. Neuroprotection and myelin repair actions of the progesterone was demonstrated in vivo and in vitro study. We report the design of a randomized controlled trial for the local injection of cortisone versus progesterone in "mild" idiopathic CTS. Methods Sixty women with age between 18 and 60 years affected by "mild" idiopathic CTS, diagnosed on the basis of clinical and electrodiagnostic tests, will be enrolled in one centre. The clinical, electrophysiological and ultasonographic findings of the patients will be evaluate at baseline, 1, 6 and 12 months after injection. The major outcome of this study is to determine whether locally-injected progesterone may be more beneficial than cortisone in CTS at clinical levels, tested with symptoms severity self-administered Boston Questionnaire and with visual analogue pain scale. Secondary outcome measures are: duration of experimental therapy; improvement of electrodiagnostic and ultrasonographic anomalies at various follow-up; comparison of the beneficial and harmful effects of the cortisone versus progesterone. Conclusion We have designed a randomized controlled study to show the clinical effectiveness of local progesterone in the most frequent human focal peripheral mononeuropathy and to demonstrate the neuroprotective effects of the progesterone at the level of the peripheral nervous system in humans.

Tibial muscular dystrophy (TMD) or Udd myopathy is an autosomal dominant distal myopathy with late onset, at first described in the Finnish population. We report here the first Italian cases of TTN mutated titinopathy. The proband, a 60 year-old female, had the first muscular signs at the age of 59 years, with difficulty in walking and right foot drop. Muscle imaging showed selective fatty degenerative change in the anterior compartment of leg muscles. Her 67 year-old brother, started to show muscle weakness, pain at lower limbs and hypertrophy of calf muscles at the age of 66 years. Their mother began to show foot drop and impaired walking from the age of 60 years. Other relatives are reported to be affected in a similar way. Because the phenotype appeared compatible with TMD, we analyzed the TTN gene in the DNA of the proband and we identified a heterozygous mutation 293326A>C. This mutation is also present in the brother and in the other affected individuals of the same family. The mutation predicts a His33378Pro change located next to the previously known Belgian TMD mutation. The mutation was not found in 100 Italian control DNA samples. Then, since the introduction of a proline in the last domain of titin was previously known to cause TMD in French families, we can conclude that this missense mutation is the obvious pathogenetic mutation in the affected patients. No other disease causing mutations in the TTN gene have so far been reported in the Italian population.

The aim of this study was to validate the Italian version of the Neuropathic Pain Symptom Inventory (NPSI) in patients with neuropathic pain due to peripheral nerve diseases, and also to evaluate the validity of a new NPSI score: a frequency weighted NPSI score (NPSI-FW). First, the original version of the NPSI was translated into Italian. Then the validity and reliability of the Italian NPSI (I-NPSI) were tested in 392 Italian patients consecutively referred to 16 Italian outpatient services for peripheral nerve diseases, by correlating the I-NPSI scores with other pain scales. The repeatability and responsiveness were assessed. A significant correlation between the I-NPSI scores and all the other pain measures was seen. Reproducibility and responsiveness were good. Our study shows the validity of the I-NPSI and demonstrates its reliability for assessing neuropathic pain in patients with peripheral nerve diseases. The I-NPSI scores represent reliable measurements to assess neuropathic symptoms and effectiveness of treatment on them.

Objective To prospectively compare high-resolution ultrasonography (US) and nerve conduction velocity (NCV) in clinically diagnosed mild carpal tunnel syndrome (CTS). Methods Eighty-five patients (70 women and 15 men, mean age 46.8 years) reported symptoms compatible with classic/probable CTS. The protocol included NCV of the median and ulnar nerves (distal motor latency [DML], sensory conduction velocity [SCV] from the third [M3 SCV] and fourth fingers [M4 SCV] to the wrist for the median nerve); electrophysiologic severity scale; self-administered Levine/Boston questionnaire (BQ); and cross-sectional area (CSA) measurement of the nerve at the tunnel inlet (CSA-I), at the middle (CSA-M), and at the outlet (CSA-O). Relationship between age, body mass index, duration of symptoms, CSAs, NCV, electrophysiologic severity scale, and BQ scores was calculated. Concordance between CSAs and NCV, sensitivity of NCV and US was also evaluated. Results The mean values of CSA-I, CSA-M, and CSA-O were 10.3, 9.8, and 8.7 mm2, respectively. Relationships were found between CSA-I and M3 SCV (r = −0.45), M4 SCV (r = −0.56), and median nerve DML (r = 0.29). Anomalous CSA-I, CSA-M, and CSA-O were found in 48, 25, and 26 patients, respectively; 55 (64.7%) had ≥1 abnormal CSA. NCV abnormalities were found in 67%. The sensitivity increased to 76.5% if US and NCV were considered together. The highest concordance to detect absence/presence of abnormalities was between CSA-I and NCV (77.6%; κ = 0.52). Conclusion In mild cases of CTS, US did not detect more anomalies than NCV and vice versa, and no anomalies were detected with either diagnostic instrument in 23.5% of mild cases.

To measure the cross-sectional area (CSA) of the median nerve by ultrasonography (US) before and after surgery in subjects with carpal tunnel syndrome (CTS), and to verify whether the normalization of presurgical parameters can be predicted by presurgical CSA values.Sixty-seven consecutive cases, mean age 60.5 years, underwent surgical decompression. Before surgery, clinical and electrophysiological severity and self-assessment of symptoms (using the Boston questionnaire, BQ) were recorded. CSAs were measured proximal to the carpal tunnel inlet (CSA-I), at mid-tunnel (CSA-M), and at the tunnel outlet (CSA-O). Follow-ups were performed 1 and 6 months after surgery. Logistic regressions were performed with normalization of CSA, clinical and electrophysiological parameters as independent variables, and presurgical findings as dependent variables.Before and after surgery there were correlations between CSA-I and clinical and electrophysiological severity scales. After 1 and 6 months, the clinical, electrophysiological, and BQ findings improved. CSA-I reduced at the 1-month follow-up and CSA-O increased between the first and second follow-up. Presurgical values of CSA-I could predict the normalization of its postsurgical value, normalization of the clinical severity scale, BQ, and full patient satisfaction postsurgery.CSA-I is the most sensitive US measurement before surgery. The presurgical value of CSA-I is a predictor of postsurgical normalization of clinical parameters and of its own value.

The aims of this study were to evaluate differences between women with carpal tunnel syndrome (CTS) and symptom onset in pregnancy (pregnancy cohort) and women with idiopathic CTS (control cohort) and to report changes in symptoms assessed by the Levine Boston Questionnaire (BQ) administered by phone 3 years after diagnosis. Forty-five pregnant women with CTS (mean age 32 +/- 3.9 years) and 90 age-matched women with idiopathic CTS were consecutively enrolled. Diagnosis was based on clinical findings and abnormal transcarpal median nerve conduction. Univariate analysis showed that the pregnancy cohort had a shorter duration of symptoms, higher frequency of bilateral symptoms and non-blue-collar workers, and lower clinical and electrophysiological severity evaluated by ordinal scales and BQ scores. Multivariate analysis showed that the pregnancy cohort had a probability of improvement of symptoms 3-4 times greater than the control cohort. The need for further treatment depended on BQ functional score; 50% of pregnant women had tolerable CTS symptoms and 85% did not require further treatment 3 years after diagnosis, whereas 72% of women in the control cohort did not require long-term therapy. The probability of need for CTS treatment did not depend on the cohort, but only on the severity of hand disability.

We report a new self-administered questionnaire for assessment of symptom severity of ulnar neuropathy at the elbow (UNE). The new UNE and Levine's questionnaires were administered to a sample of UNE subjects and for comparison also to a sample of subjects with carpal tunnel syndrome (CTS). We enrolled 89 consecutive patients (32 women, 57 men, mean age 52.3 years) with UNE and 203 consecutive patients (157 women and 46 men, mean age 53.7 years) with CTS. The protocol of the study consisted in self-administration of the new UNE and Levine's questionnaires, as well as scoring of clinical and electrophysiological severity of entrapment syndromes with ordinal scales. The UNE questionnaire (UNEQ) includes nine questions and considers numbness and tingling in the fourth and fifth fingers, elbow pain and modification of pain and paraesthesia with elbow position. A score from 1 (absence of symptom) to 5 (most severe) is assigned for each question. The overall score is calculated as the mean of the nine scores. Test-retest reliability, internal consistency and validity were assessed. Responsiveness was also tested in a sample of patients undergoing conservative treatment. The UNEQ was reproducible. Spearman's correlation coefficient between scores at successive observations (test-retest reliability), assessed in the first 44 patients, was 0.97 and Cohen coefficients kappa for single items were between 0.64 and 0.81. Internal consistency was high: Cronbach's alpha, which summarises interitem correlations among all items of UNEQ, was 0.87. Validity was demonstrated by a direct correlation with UNE clinical and electrophysiological severity scores (0.65 and 0.35). On the contrary, Spearman's correlation coefficients between UNEQ and clinical and electrophysiological CTS severity scores were low (0.11 and 0.02, respectively). Responsiveness was calculated at 6-8 months follow-up in 25 cases. The effect size was 0.46. The Wilcoxon rank-test showed significant improvement between basal and follow-up UNEQ scores (Z=-2.39, p=0.017), but not Boston Questionnaire scores. There was also significant correlation between UNEQ changes and an arbitrary scale of patient satisfaction at follow-up (r=0.85, p

Mondelli M, Romano C, Rossi S, Cioni R. Herpes zoster of the head and limbs: electroneuromyographic and clinical findings in 158 consecutive cases. Arch Phys Med Rehabil 2002;83:1215-21. Objectives: To quantify electromyographic and neurographic changes and to correlate them with the clinical data of outpatients with herpes zoster. Design: Prospective case series. Setting: Outpatient department. Patients: A consecutive, unselected series of 158 outpatient cases (88 women, 70 men; mean age, 64y) of herpes zoster of the head and limbs. Interventions: Not applicable. Main Outcome Measures: Blink reflex and electromyography and motor and sensory nerve conduction velocities of nerves and muscles corresponding to affected dermatomes. Results: Postherpetic neuralgia (PHN), segmental zoster paresis, and polyneuropathy were found in 31%, 19%, and 2.5% of cases, respectively. Absence or reduction of sensory action potential amplitudes, blink reflex areas, and compound muscle action potential amplitudes were found in 60%, 31%, and 18% of cases, respectively. Sensory and motor conduction velocities and motor and blink reflex latencies were nearly always normal or only slightly slowed. Electromyographic signs of abnormal spontaneous activity were found in 36% of the cases. Electrophysiologic alterations were correlated among themselves, with age, with presence of segmental zoster paresis, and with absence of antiviral therapy. The extent of the skin rash (number of dermatomes affected by herpes zoster) was the only variable predictive of disappearance or improvement of PHN. Conclusions: Sensory axonal neuropathy, often associated with similar motor involvement, can be shown by classical electrophysiologic methods in herpes zoster. The severity of damage to motor fibers was related to damage to sensory fibers, but no relation was found between peripheral axon damage and PHN. The site of motor system damage may be the ventral roots, plexus, or peripheral nerve. The probability of complications and the severity of sensory and motor peripheral axonal damage were increased in older patients. Appropriate antiviral therapy seems to reduce the incidence of segmental zoster paresis and the severity of damage to the peripheral fibers. A reduced extent of herpetic rash was the only factor to correlate with a good outcome of PHN. © 2002 by the American Congress of Rehabilitation Medicine and the American Academy of Physical Medicine and Rehabilitation

A prospective study of upper limb nerve conduction velocity was performed in 39 subjects (9 males, 30 females, mean age 46.8 years) with idiopathic Raynaud's phenomenon (RP) and 18 patients (3 males, 15 females, mean age 49.9 years) with RP secondary to systemic sclerosis (SS). Five subjects with idiopathic RP (13%) showed slowing of sensory conduction velocity (SCV) of the distal median nerve, associated with delayed distal motor latency (DML) of the same nerve in three patients, without clinical signs or symptoms of carpal tunnel syndrome (CTS). Three patients with secondary RP (17%) had reduction of SCV of the distal median nerve, associated with increased DML of the same nerve in one and with clinically silent slowing of SCV of the ulnar nerve in two (11%). Mean distal SCVs of the median nerve were significantly lower and mean DMLs were significantly higher in both groups with respect to a control group. Mean distal conduction of the ulnar nerve was significantly slower only in the group with secondary RP. No slowing was observed in the proximal part of any nerve. It seems likely that patients with idiopathic RP have slowing of conduction in the distal part of the median nerve, along the carpal tunnel. Since slowing does not occur in all parts of the nerves of the hand, it cannot be related to acral vasomotor disturbances, but to local or systemic factors. In contrast, patients with secondary RP had slowing of median and ulnar nerve conduction velocity, presumably related to subclinical distal peripheral neuropathy. A nerve conduction study of the hand could be useful in cases of suspected secondary origin of RP. In idiopathic RP, slowing of conduction may only affect the median nerve, whereas in secondary RP it may affect other nerves of the hand.

SUMMARY Six patients with ataxia-telangiectasia were given neurophysiological examinations. The patients had progressive sensorimotor axonal neuropathy that had begun at about age eight years. Brainstem auditory evoked potentials (BAEPs) showed central alterations in two of four cases. Somatosensory (BAEPs) and motor evoked potentials (MEPs) were altered in four of five cases. In the advanced stage of the disease the neurophysiological findings, except BAEPs and MEPs, resembled those in Friedreich's ataxia. MEP and BAEP results may therefore be useful for differential diagnosis. RESUME Ataxie-telangiectasie: polentiels evoques somatosensoriels, auditifs du tronc cerebral et moteurs chez six patients Des examens neurophysiologiques ont ete pratiques chez six patients avec ataxie-telangiectasie. Les patients presentaient une neuropathie axonale sensorimotrice, ayant commence vers l'âge de huit ans. Les potentiels evoques auditifs du tronc cerebral (BAEPs) revelaient une atteinte centrale dans deux de quatre cas. Les potentiels evoques somatosensoriels (BAEPs) et moteurs (MEPs) etaient alteres dans quatre de cinq cas. A un stade avance de l'affection, les donnees neurophysiologiques, exceptes les BAEPs et les MEPs, resemblaient a celles d'une ataxie de Friedreich. Les resultats MEP et BAEP peuvent ainsi etre utiles pour un diagnostic differentiel. ZUSAMMENFASSUNG Ataxia-Telangiectasia: somatosensorisch-, akiistisch- und inotorisch evozierte Potentiate bei seclis Patienten Sechs Patienten mit Ataxia-Telangiectasia wurden neurophysiologisch untersucht. Die Patienten hatten eine progressive sensomotorische axonale Neuropathie, die im Alter von etwa acht Jahrcn begann. Bei zwei von vier Fallen zeigten die akustisch evozierten Hirnstammpotentiale (BAEPs) zentrale Veranderungen. Die somatosensorisch (BAEPs) und motorisch evozierten Potentiale (MEPs) waren in vier von funf Fallen verandert. Im fortgeschrittenen Stadium der Erkrankung ahnelten die neurophysiologischen Befunde–auser BAEPs und MEPs–denen bei der Friedreich schen Ataxic MEP und BAEP Ergebnisse konnen daher fur die Differentialdiagnose von Bedeutung sein. RESUMEN Ataxia-telangiectasia: potenciales evocados somato-sensoriales, audilivos del tronco cerebral motores, en seis pacientes Se exploraron neurofisiologicamente seis pacientes con ataxia telangiectasia. Los paciente tenian una neuropatia axonal sensorio-motora progresiva que se inicio hacia los ocho anos de edad. Los potenciales evocados auditivos del tronco cerebral (BAEP) mostraron alteracioncs centrales en dos de los cuatro casos. Los potenciales evocados somatosensoriales (BAEP) y los motores (MEP) estaban alterados en cuatro de los seis casos. En la fase avanzada de la ehfermedad, los hallazgos neurofisiologicos, excepto los BAEP y los MEP, se asemejaban a los de la ataxia de Friedreich. Asi pues, los MEP y los BAEP peuden ser utiles para un diagnostico diferencial.

We report the electrophysiological findings and the management of 5 subjects with progressive systemic sclerosis (PSS) and clinical evidence of nerve entrapment. Three had carpal tunnel syndrome (CTS), 1 bilateral CTS and right tarsal tunnel syndrome (TTS) and 1 Guyon's canal syndrome. Only 1 patient (with CTS) showed significant clinical improvement after surgical decompression; the other 4 demonstrated a slight recovery of conduction without lasting clinical relief after conventional treatment. To explain these failures we hypothesized that these entrapment syndromes were the clinical expression of underlying diffuse damage to the peripheral nervous system (PNS). The conduction values of nerves unaffected by entrapment syndromes were within normal limits, but almost all distal velocities were below the mean of controls. Such subclinical distal peripheral neuropathy was also verified in a selected sample of 17 patients with PSS, without clinical symptoms or signs of PNS involvement. In these 17 cases the mean distal sensory and motor conduction findings of the median, ulnar, sural and tibial nerves were significantly lower than those of a control group, while no significant differences were found in the more proximal tracts of the same nerves. Furthermore, 3 of the 17 patients showed classical electrophysiological evidence of TCS and TTS without any clinical symptoms. We concluded that the subjects with PSS had subclinical polyneuropathy which may become plain polyneuropathy or nerve entrapment syndromes perhaps induced by other risk factors.

• Evoked potentials are reported in 10 patients with cerebrotendinous xanthomatosis, eight of whom had peripheral neuropathy. Four subjects showed delayed N13 to N20 interpeak latencies for arm somatosensory evoked potentials, and five showed moderately prolonged I to III and I to V interpeak latencies of brain-stem auditory evoked potentials. Six of seven patients showed marked delay and desynchronization of visual evoked potentials. All five patients undergoing transcutaneous magnetic stimulation of the motor cortex presented greatly delayed central motor conduction time, especially of the lower limbs. After treatment with chenodiol (750 mg/d for at least 2 years), there was a significant improvement in nerve conduction velocities, N13 to N20 interpeak latencies, and visual evoked potential latencies. Brain-stem auditory evoked potentials remained unchanged.

The authors describe the clinical phenotypes of hexosaminidase deficiencies (GM2 gangliosidosis). The symptoms, differently combined, include cerebellar ataxia, motor neuron disease, dystonia, psychosis, neurovegetative troubles with different severity. Morphological changes are evident in rectal, muscle or nerve biopsies. Minor clinical changes are described in carriers from a family. A chronic GM2 gangliosidosis has to be suspected in any atypical case with the above-mentioned symptoms with autosomal-recessive inheritance.

– 9 patients with Charcot-Marie-Tooth Disease (CMTD) of intermediate type (PMA type II, 10), all from the same family, presented with a significant increase of the interpeak N9-N13 latency. This increase is already present in the pre-symptomatic phase of the disease and there is no significant difference between the various patients of different ages and clinical severity, indicating that the lesions appears very early and tends to establish itself equally early. Similar behaviour is also seen in the distal conduction velocity along the sensitive fibres, while the more proximal areas seem to be relatively spared. The authors interpret these data as an expression of a distal central peripheral sensory neuropathy. In contrast, the lesion of the peripheral motor fibres, particularly in the legs, has a different and more severe pattern of evolution. Alterations in central conduction time (N13-N20) were not seen in any of the 9 patients studied.