Citations

OBJECTIVE Nerve biopsy is useful in the management of neuromuscular disorders and is commonly performed in distal, noncritical cutaneous nerves. In general, these procedures are diagnostic in only 20%–50%. In selected cases in which preoperative evaluation points toward a more localized process, targeted biopsy would likely improve diagnostic yield. The authors report their experience with targeted fascicular biopsy of the brachial plexus and provide a description of the operative technique. METHODS All cases of targeted biopsy of the brachial plexus biopsy performed between 2003 and 2015 were reviewed. Targeted nerve biopsy was performed using a supraclavicular, infraclavicular, or proximal medial arm approach. Demographic data and clinical presentation as well as the details of the procedure, adverse events (temporary or permanent), and final pathological findings were recorded. RESULTS Brachial plexus biopsy was performed in 74 patients (47 women and 27 men). The patients' mean age was 57.7 years. All patients had abnormal findings on physical examination, electrodiagnostic studies, and MRI. The overall diagnostic yield of biopsy was 74.3% (n = 55). The most common diagnoses included inflammatory demyelination (19), breast carcinoma (17), neurolymphomatosis (8), and perineurioma (7). There was a 19% complication rate; most of the complications were minor or transient, but 4 patients (5.4%) had increased numbness and 3 (4.0%) had additional weakness following biopsy. CONCLUSIONS Targeted fascicular biopsy of the brachial plexus is an effective diagnostic procedure, and in highly selected cases should be considered as the initial procedure over nontargeted, distal cutaneous nerve biopsy. Using MRI to guide the location of a fascicular biopsy, the authors found this technique to produce a higher diagnostic yield than historical norms as well as providing justification for definitive treatment.

Abstract BACKGROUND: Intraneural perineuriomas are rare, benign lesions produced by the neoplastic proliferation of perineurial cells. They typically present in adolescents and affect nerves of the limbs. In our experience, we have not encountered a single case of classic intraneural perineurioma at an intradural location. OBJECTIVE: To determine whether intraneural perineuriomas could occur intradurally, given the prevalence of intradural nerve sheath tumors, and explain our findings with an anatomic perspective. METHODS: We retrospectively reviewed the high-resolution magnetic resonance images of 56 patients from an institutional registry of patients with intraneural perineurioma. All cases were analyzed for signs of proximal extension toward spinal nerves, roots, and spinal cord. A literature review was performed. The clinical, radiological, and histopathological features of potential intradural lesions were critically appraised against strict criteria for a diagnosis of classic intraneural perineurioma. RESULTS: Fifteen of 56 (27%) patients with intraneural perineurioma had a proximal localization in the lumbosacral or brachial plexus. Not a single case occurred proximal to the dorsal root ganglia (DRG). One case of trigeminal intraneural perineurioma occurred distal to the gasserian ganglion. A literature review did not reveal any convincing cases of classic intraneural perineuriomas occurring in an intraspinal intradural location and revealed only 1 possible case in an intracranial intradural location. CONCLUSION: Based on our study, the occurrence of classic intraneural perineuriomas intradurally is exceedingly rare, if at all present. This may be related to the paucity of perineurial cells at the nerve root level and reciprocal interactions between neuroglial cells at the central-to-peripheral transition zones.

ABSTRACTIntroductionPolyneuropathy signs (Neuropathy Impairment Score, NIS), neurophysiologic tests (m+7Ionis), disability, and health scores were assessed in baseline evaluations of 100 patients entered into an oligonucleotide familial amyloidotic polyneuropathy (FAP) trial.MethodsWe assessed: (1) Proficiency of grading neurologic signs and correlation with neurophysiologic tests, and (2) clinometric performance of modified NIS+7 neurophysiologic tests (mNIS+7Ionis) and its subscores and correlation with disability and health scores.ResultsThe mNIS+7Ionis sensitively detected, characterized, and broadly scaled diverse polyneuropathy impairments. Polyneuropathy signs (NIS and subscores) correlated with neurophysiology tests, disability, and health scores. Smart Somatotopic Quantitative Sensation Testing of heat as pain 5 provided a needed measure of small fiber involvement not adequately assessed by other tests.ConclusionsSpecially trained neurologists accurately assessed neuropathy signs as compared to referenced neurophysiologic tests. The score, mNIS+7Ionis, broadly detected, characterized, and scaled polyneuropathy abnormality in FAP, which correlated with disability and health scores. Muscle Nerve 56: 901–911, 2017

Intraneural perineuriomas are benign peripheral nerve sheath tumors that cause progressive debilitating focal extremity weakness. The etiology of perineuriomas is largely unknown. We utilized whole exome sequencing, copy number algorithm evaluation, and high‐resolution whole genome microarray to investigate for a genetic causal link to intraneural perineuriomas. Ten of 16 (60%) tumor cases had mutations in the WD40 domain of TRAF7, the same location for causal mutations of meningiomas. Two additional perineurioma cases had large chromosomal abnormalities in multiple chromosomes, including chromosome 22q. This study identifies a common cause for intraneural perineuriomas and an unexpected shared pathogenesis with intracranial meningiomas. Ann Neurol 2017;81:316–321

ABSTRACTIntroductionSjögren syndrome is thought to be a lymphocyte‐driven process. Peripheral nervous system involvement occurs in about 20%–25% of patients. A sensory‐predominant, large‐fiber peripheral neuropathy is most common, and it is usually associated with a subacute to chronic presentation.MethodsWe report a rare case of an acute Sjögren‐associated, sensory predominant, length‐dependent peripheral neuropathy mimicking Guillain–Barré syndrome. The patient presented with sensory ataxia preceded by fever and polyarthralgia. She gave a history of years of dry eyes and dry mouth.ResultsShe had a positive Shirmer test, abnormal salivary gland scan, and positive SS‐A and SS‐B antibodies. A sural nerve biopsy showed an unusual, dense, non‐IgG4, polyclonal, plasma‐cell perivascular infiltrate. The patient responded to treatment with weekly pulse intravenous methylprednisolone.ConclusionsSjögren syndrome can present with acute‐onset, sensory predominant peripheral neuropathy. The role of plasma cells in Sjögren syndrome is unexplored and deserves further study. Muscle Nerve 55: 605–608, 2017

ObjectiveTo systematically compare transthyretin with primary amyloid neuropathy to define their natural history and the underlying mechanisms for differences in phenotype and natural history.MethodsAll patients with defined amyloid subtype and peripheral neuropathy who completed autonomic testing and electromyography at Mayo Clinic Rochester between 1993 and 2013 were included. Medical records were reviewed for time of onset of defined clinical features. The degree of autonomic impairment was quantified using the composite autonomic severity scale. Comparisons were made between acquired and inherited forms of amyloidosis.ResultsOne hundred one cases of amyloidosis with peripheral neuropathy were identified, 60 primary and 41 transthyretin. Twenty transthyretin cases were found to have Val30Met mutations; 21 had other mutations. Compared to primary cases, transthyretin cases had longer survival, longer time to diagnosis, higher composite autonomic severity scale scores, greater reduction of upper limb nerve conduction study amplitudes, more frequent occurrence of weakness, and later non‐neuronal systemic involvement. Four systemic markers (cardiac involvement by echocardiogram, weight loss > 10 pounds, orthostatic intolerance, fatigue) in combination were highly predictive of poor survival in both groups.InterpretationThese findings suggest that transthyretin has earlier and greater predilection for neural involvement and more delayed systemic involvement. The degree and rate of systemic involvement is most closely related to prognosis. Ann Neurol 2016;80:401–411