Clinical experience of seropositive ganglionic acetylcholine receptor antibody in a tertiary neurology referral center.

INTRODUCTION: Antibody against the acetylcholine receptor of autonomic ganglia (gAChR-Ab) is implicated in the pathogenesis of autoimmune autonomic ganglionopathy (AAG) and several other disorders. METHODS: This study was a retrospective evaluation of 95 patients positive for gAChR-Ab. RESULTS: Twenty-one (22%) patients had AAG, with a greater median gAChR-Ab level (0.21 nmol/L) and higher percentage (57%) of antibody levels >0.20 nmol/L when compared with the remaining 74 patients without autonomic manifestations (non-AAG group, 0.10 nmol/L and 15%, respectively). Only 2 new cases of malignancy were diagnosed after gAChR-Ab detection. The non-AAG group was associated with high frequencies of neurological and non-neurological autoimmunity, but also included 23 (31%) patients with mostly degenerative disorders. CONCLUSION: Detection of gAChR-Ab, especially at a higher level, is helpful for the diagnosis of AAG in patients with corresponding autonomic symptoms. However, its value is limited for predicting cancer risk and for diagnosis and management of patients without autonomic symptoms.

Electrodiagnostic features of true neurogenic thoracic outlet syndrome.

INTRODUCTION: We report the electrodiagnostic (EDX) features of 32 patients with surgically verified true neurogenic thoracic outlet syndrome (TN-TOS). METHODS: Retrospective record review. RESULTS: We found uniform EDX evidence of a chronic axon loss process that affected the lower portion of the brachial plexus and disproportionately involved the T1 more than the C8 sensory and motor fibers. Because of this relationship, the medial antebrachial cutaneous sensory nerve (T1) and median motor (T1 > C8) study combination was abnormal in 89%, whereas response combinations that primarily assessed the C8 fibers were less frequently affected. CONCLUSIONS: The characteristic EDX features of TN-TOS are T1 > C8 nerve fiber involvement. A comprehensive EDX examination of the lower plexus with contralateral comparison studies is imperative to diagnose this disorder accurately.

Sural sensory nerve action potential, epidermal nerve fiber density, and quantitative sudomotor axon reflex in the healthy elderly.

INTRODUCTION: Polyneuropathy evaluation in older patients is often challenging due to conflicting data regarding normative values for peripheral nerve testing. METHODS: We characterized the results of sural nerve conduction studies, intraepidermal nerve fiber density (IENFD), and quantitative sudomotor axon reflex testing (QSART) in a prospective study of 50 healthy subjects aged ≥60 years. RESULTS: Of the 50 subjects, 48 (96%) had an obtainable sural sensory nerve action potential (SNAP). Using quantile regression, we estimated the lower limit of normal (LLN) for sural amplitudes to be 3 µV for patients 60-70 years, 1 µV for those 70-74 years, and <1 µV (absent) for those ≥75 years of age. IENFD and QSART volume were reduced with advancing age, although IENFD was lower in men and QSART volume was lower in women. CONCLUSIONS: We propose that an absent sural SNAP in patients up to 75 years of age should be considered abnormal. Our findings also support age- and gender-stratified normative data for IENFD and QSART.

POTS due to excessive venous pooling in an enlarged inferior vena cava.

Postural tachycardia syndrome (POTS) is a form of orthostatic intolerance characterized by a marked increase in heart rate within the first 10 min of head-up tilt (HUT). We present a patient whose enlarged inferior vena cava that appears to be a contributing mechanism to her POTS and presyncopal symptoms.

Tentorial dural arteriovenous fistula presenting with quadriparesis: case report and review of the literature.

Tentorial dural arteriovenous fistulas (TDAVFs) draining into the spinal venous system are rare lesions. The clinical presentation can be devastating and the diagnosis delayed because of the initial nonspecific imaging and laboratory findings. We report a case of a 20-year-old woman with a rapidly progressive myelopathy, who was found to have a left TDAVF, fed by a single arterial feeder with drainage into the perimedullary venous system. The fistula was surgically clipped. The patient showed neurologic improvement at her 3-month follow-up but still had significant weakness of all 4 extremities. Early diagnosis is key as the neurologic symptoms are reversible with appropriate treatment. We review the relevant literature, imaging characteristics, and treatment modalities for TDAVF.

Postural Tachycardia Syndrome and Vasovagal Syncope: A Hidden Case of Obstructive Cardiomyopathy without Severe Septal Hypertrophy.

A 36-year-old female with symptoms of orthostatic intolerance and syncope was diagnosed with vasovagal syncope on a tilt table test and with postural tachycardia syndrome (POTS) after a repeat tilt table test. However, an echocardiogram at our institution revealed obstructive cardiomyopathy without severe septal hypertrophy, with a striking increase in left ventricular outflow tract gradient from 7 mmHg at rest to 75 mmHg during Valsalva, with a septal thickness of only 1.3 cm. Cardiac MRI showed an apically displaced multiheaded posteromedial papillary muscle with suggestion of aberrant chordal attachments to the anterior mitral leaflet contributing to systolic anterior motion of the mitral valve. She underwent surgery with reorientation of the posterior medial papillary muscle head, resection of the tethering secondary chordae to the A1 segment of the mitral valve, chordal shortening and tacking of the chordae to the A1 and A2 segments of the mitral valve, and gentle septal myectomy. After surgery, she had significant improvement in her prior symptoms. To our knowledge, this is the first reported case of obstructive cardiomyopathy without severe septal hypertrophy with abnormalities in papillary muscle and chordal attachment, in a patient diagnosed with vasovagal syncope and POTS.

Diagnostic Accuracy of Single Fiber Electromyography for Myasthenia Gravis in Patients Followed Longitudinally.

INTRODUCTION: The literature lacks data on accuracy of single fiber electromyography (SFEMG) for myasthenia gravis (MG) patients followed longitudinally. METHODS: We included patients with a clinical suspicion of MG who received SFEMG and follow-up at our institution between 2003 and 2013. Data collected included demographics, symptom details, clinical deficits, other diagnostic testing results, MG medication regimen, duration on treatment, response to therapy, and ultimate diagnosis after follow-up. When available, information was also extracted from the MG-specific Activities of Daily Living, MG Quality of Life, and European Quality of Life assessments before and after SFEMG. RESULTS: Three hundred forty eight SFEMG patients met inclusion criteria. Myasthenia gravis was ultimately diagnosed in 31% (19% ocular, 12% generalized). A sensitivity of 78% was seen for MG regardless of subtype, 73% for ocular MG, and 85% for generalized MG. A specificity of 91% was obtained for MG of either ocular or generalized subtype. CONCLUSIONS: The diagnostic accuracy of SFEMG using this methodology minimizing incorporation bias is more reliable than that usually described in previous studies. There is utility in increasing diagnostic yield when SFEMG results are combined with clinical data and those from other diagnostic tests, particularly serology.

Laryngeal nerve function after total laryngeal transplantation.

The first successful composite human laryngeal transplantation was performed by a team led by the senior author on January 4, 1998. The recipient was a 40-year-old male who had sustained a crush injury to his larynx 20 years prior, rendering him aphonic. Multiple previous attempts for reconstruction at an outside hospital were unsuccessful. The donor was a 40-year-old male who had died from a ruptured cerebral aneurysm. The specifics of the procedure have been detailed elsewhere. Throughout the patient's postoperative course, serial fiberoptic evaluations and voice testing were performed to evaluate laryngeal reinnervation reflected in phonatory function. We herein report the results of these exams, as well as the results of electromyographic recordings of the laryngeal musculature 4 years posttransplantation.

Electronic analysis of intrinsic laryngeal muscles in canine sound production.

This study explores the relationship between voice production and intrinsic laryngeal muscle (ILM) activities as expressed by orderly recruitment of their specific motor units. In 5 dogs, both the recurrent laryngeal nerve (RLN) and the vagus nerve (cranial nerve X) were stimulated via tripolar electrodes with stimulating frequencies (Fs) of 10 to 60 Hz and 0 to 7 mA during application of symmetric 600 Hz, 7 to 0 mA blocking currents. The fundamental frequency (Fo) and the intensity (I) of sounds generated by tracheal insufflation of humidified air were recorded while electromyograms of the cricothyroideus (CT), thyroarytenoideus (TA), and posterior cricoarytenoideus (PCA) were obtained via surface electrodes. Contractions of the CT were concurrently induced by stimulating the superior laryngeal nerve (SLN). The recruitment rates were highly specific and were affected by which nerve was stimulated. For the RLN, PCA ramping was lowest for Fs of < or =50 Hz. For Fs of 10 to 30 Hz, the recruitment rate of the TA was significantly steeper than that for the other ILMs, and the CT had the highest rate for Fs of 40 to 50 Hz. Conversely, for the vagus nerve, PCA recruitment was highest for Fs of > or =30 Hz. The average Fo was significantly higher with the RLN than with the vagus nerve. When the TA recruited faster than the CT (ie, via the RLN, but not the vagus nerve), the Fo was higher. While only CT ramping was significantly related to changes in sound intensity, there was a trend toward a decrease when PCA ramping was higher than CT ramping, as occurred when only the vagus nerve was stimulated. Stimulation of the SLN always increased Fo and loudness. We conclude that changes in Fo occur mainly through RLN-mediated CT and TA contraction. Loudness is controlled by the CT. The PCA exerts reciprocal coupling on both functions via the vagus nerve, and they are boosted across the board by the SLN. These findings may allow artificial manipulation of voice.

A method to detect single-nucleotide polymorphisms accounting for a linkage signal using covariate-based affected relative pair linkage analysis.

We evaluate an approach to detect single-nucleotide polymorphisms (SNPs) that account for a linkage signal with covariate-based affected relative pair linkage analysis in a conditional-logistic model framework using all 200 replicates of the Genetic Analysis Workshop 17 family data set. We begin by combining the multiple known covariate values into a single variable, a propensity score. We also use each SNP as a covariate, using an additive coding based on the number of minor alleles. We evaluate the distribution of the difference between LOD scores with the propensity score covariate only and LOD scores with the propensity score covariate and a SNP covariate. The inclusion of causal SNPs in causal genes increases LOD scores more than the inclusion of noncausal SNPs either within causal genes or outside causal genes. We compare the results from this method to results from a family-based association analysis and conclude that it is possible to identify SNPs that account for the linkage signals from genes using a SNP-covariate-based affected relative pair linkage approach.

Heart rate variability with deep breathing as a clinical test of cardiovagal function.

Research into heart rate variability (HRV) and respiration over the past 150 years has led to the insight that HRV with deep breathing (HRVdb) is a highly sensitive measure of cardiovagal or parasympathetic cardiac function. This sensitivity makes HRVdb an important part of the battery of cardiovascular autonomic function tests used in clinical autonomic laboratories. HRVdb is a reliable and sensitive clinical test for early detection of cardiovagal dysfunction in a wide range of autonomic disorders.

Phrenic neuropathy due to neuralgic amyotrophy.

The authors reviewed the medical records of 33 patients diagnosed with idiopathic phrenic neuropathy and found that 17 patients had clinical features of neuralgic amyotrophy. They concluded that a careful clinical and electrodiagnostic evaluation may implicate neuralgic amyotrophy as a causative disease in patients with apparently isolated phrenic neuropathy.

Literature review: nervepace digital electroneurometer in the diagnosis of carpal tunnel syndrome.

Over the last two decades, several diagnostic devices have been developed to assess patients with suspected carpal tunnel syndrome (CTS). One such device is the Nervepace Digital Electroneurometer (NDE). At this time, however, the AAEM concludes that the current literature does not support the substitution of the NDE for standard electrodiagnostic studies in the clinical evaluation of patients with CTS.