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Introduction/aims: Imbalance is a common feature of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Intravenous immunoglobulin (IVIg) exerts clinical benefit in CIDP, including improving balance, although objective markers of efficacy are lacking. Posturography is an established objective marker of balance; therefore, this study aimed to determine the utility of posturography as an objective marker of treatment efficacy in CIDP., Methods: Posturography was performed on 18 CIDP patients, established on IVIg infusions, and results were compared to age-matched healthy controls. CIDP patients were assessed just prior to IVIg infusion and at the mid-point of the cycle. Center of pressure (CoP) was measured and the total path traveled by CoP (Sway Path, SP) was calculated for five different conditions: feet placed in parallel 16 cm apart at the medial border with eyes open (16cmEO) and eyes closed (16cmEC); medial borders of the feet touching with eyes open (0cmEO) and eyes closed (0cmEC); and tandem stance., Results: The sway path (SP) was significantly increased in CIDP patients (mean SP 1191 ± 104 mm) when compared to healthy controls (mean SP 724 ± 26 mm, P < .001). The increase was most prominent during eyes closed and tandem stance conditions. Treatment with IVIg significantly reduced SP when assessing 0cmEC (1759 ± 324 mm vs. 1081 ± 134 mm, P = .019) and tandem stance (1775 ± 290 mm vs. 1152 ± 113 mm, P = .027)., Discussion: Posturography detected significant improvements in balance following IVIg in CIDP patients established on maintenance therapy. As such, posturography may be considered an objective marker of treatment response in clinical management and therapeutic trials., (© 2021 Wiley Periodicals LLC.)

Introduction: This study explored potential diagnostic markers of nerve ultrasound in differentiating amyotrophic lateral sclerosis (ALS) from mimic disorders., Methods: Ultrasound of the median, ulnar, and tibial nerves was conducted in 53 patients with ALS, 32 patients with ALS-mimic disorders, and 30 controls. Nerve cross-sectional area (CSA) and distal-proximal ratios were calculated., Results: The median nerve CSA in the upper arm was decreased (7.9 ± 1.3 mm 2 vs. 9.0 ± 1.4 mm 2 , P < 0.05), and the median nerve wrist-upper arm ratio was increased in ALS patients compared with controls (1.3 ± 0.4 vs. 1.1 ± 0.2; P < 0.01). In differentiating ALS from mimic presentations, assessment of median nerve CSA in the upper arm and comparison of a median and ulnar nerve CSA distal-proximal ratio provide diagnostic potential., Discussion: Assessment of nerve CSA combined with calculation of nerve CSA distal-proximal ratio provides a useful marker to aid in the diagnosis of ALS. Muscle Nerve 58:777-783, 2018., (© 2018 Wiley Periodicals, Inc.)

Introduction: Sensorimotor neuropathy associated with IgG4 antibodies to neurofascin-155 (NF155) was recently described. The clinical phenotype is typically associated with young onset, distal weakness, and in some cases, tremor., Methods: From a consecutive cohort of 55 patients diagnosed with chronic inflammatory demyelinating polyneuropathy, screening for anti-NF155 antibodies was undertaken. Patients underwent clinical assessment, diagnostic neurophysiology, including peripheral axonal excitability studies and nerve ultrasound., Results: Three of 55 chronic inflammatory demyelinating polyneuropathy patients (5%) tested positive for anti-NF155 IgG4. Patients presenting with more severe disease had higher antibody titers. Ultrasound demonstrated diffuse nerve enlargement. Axonal excitability studies were markedly abnormal, with subsequent mathematical modeling of the results supporting disruption of the paranodal seal., Discussion: A broad spectrum of disease severity and treatment response may be observed in anti-NF155 neuropathy. Excitability studies support the pathogenic role of anti-NF155 IgG4 antibodies targeting the paranodal region. Muscle Nerve 57: 848-851, 2018., (© 2017 Wiley Periodicals, Inc.)

Introduction: Congenital myasthenic syndromes (CMS) usually present neonatally or in early childhood. When they present later, they may be mistaken for seronegative autoimmune myasthenia, and unnecessary immunosuppressive treatment may be administered., Methods: Patients who met criteria for seronegative generalized myasthenia without congenital or early childhood onset, but with an affected sibling were tested for CMS associated genes using exome and Sanger sequencing., Results: Four sibling pairs from nonconsanguineous families were identified. Three had mutations in the RAPSN gene, and 1 had a mutation in CHRNA1. One sibling of a pair with symptoms of fatigue but no convincing features of neuromuscular dysfunction tested negative on genetic studies. The definite CMS cases comprised 7 of 25 seronegative patients with definite generalized myasthenia in the clinic, and over half had been treated for autoimmune myasthenia., Conclusions: CMS is probably underdiagnosed in seronegative myasthenic disorders and should be considered in the differential diagnosis. Muscle Nerve 54: 721-727, 2016., (© 2016 Wiley Periodicals, Inc.)

Objective: The objective of the study was to profile leukocyte markers modulated during intravenous immunoglobulin (IVIg) treatment, and to identify markers and immune pathways associated with clinical efficacy of IVIg for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) with potential for monitoring treatment efficacy., Methods: Response to IVIg treatment in newly diagnosed IVIg-naïve and established IVIg-experienced patients was assessed by changes in expression of inflammatory leukocyte markers by flow cytometry. The adjusted INCAT disability and Medical Research Council sum scores defined clinical response., Results: Intravenous immunoglobulin modulated immunopathogenic pathways associated with inflammatory disease in CIDP. Leukocyte markers of clinical efficacy included reduced CD185 + follicular helper T cells, increased regulatory markers (CD23 and CD72) on B cells, and reduction in the circulating inflammatory CD16 + myeloid dendritic cell (mDC) population and concomitant increase in CD62L and CD195 defining a less inflammatory lymphoid homing mDC phenotype. A decline in inflammatory CD16 + dendritic cells was associated with clinical improvement or stability, and correlated with magnitude of improvement in neurological assessment scores, but did not predict relapse. IVIg also induced a nonspecific improvement in regulatory and reduced inflammatory markers not associated with clinical response., Conclusions: Clinically effective IVIg modulated inflammatory and regulatory pathways associated with ongoing control or resolution of CIDP disease. Some of these markers have potential for monitoring outcome.

Chronic acquired demyelinating polyneuropathy (CADP) is a heterogeneous syndrome that may be classified into a number of subtypes. Somatosensory evoked potentials (SSEPs) assess proximal segments of sensory nerves, inadequately assessed by routine nerve conduction studies (NCSs). The aim of the present study was to determine the utility of SSEPs in diagnosing and classifying different CADP subtypes. Forty-seven patients with CADP were studied and classified in five groups based on conventional NCSs and SSEPs. Some patients in Group 1 were initially misdiagnosed as having either motor neuron disease or multifocal motor neuropathy due to normal sensory NCSs, but they exhibited abnormal tibial and median nerve SSEPs, as evidenced by marked prolongation or absence of peripheral potentials (N9-median nerve, and N20-tibial nerve). These were reclassified as having chronic inflammatory demyelinating neuropathy (CIDP). In CIDP patients (Group 2), SSEPs were abnormal, thereby confirming the presence of demyelination in the proximal peripheral nerves. Patients with distal acquired demyelinating neuropathy (DADS) (Group 3), as defined by conventional NCS, exhibited abnormal SSEPs when anti-MAG antibodies were present. Anti-MAG-negative DADS patients (Group 3) had normal SSEPs. In the pure sensory ataxic group (Group 4), SSEP studies disclosed poorly formed and delayed cortical potentials with absent lumbar (N20) potentials, thereby suggesting the presence of proximal demyelination. SSEPs were normal in the pure motor CIDP and multifocal motor neuropathy patients (MMN) (Group 5), thereby differentiating asymmetric forms of CIDP from MMN. These findings suggest that SSEPs may be an important complementary investigation to conventional NCSs in the diagnosis of CADP.

Polyglucosan body disease (PBD) is a slowly progressive adult-onset glycogen storage disorder that typically affects upper and lower neurons. Myopathy, as a complication of PBD has been reported rarely and clinically manifests as chronic limb-girdle muscle weakness. We report an unusual case of PBD myopathy presenting as an asymmetric motor syndrome that clinically overlapped with amyotrophic lateral sclerosis, further expanding the phenotype of this disorder.

Neurophysiological techniques assessing anterior interosseous nerve (AIN) function and employing surface electrode recordings from the flexor pollicis longus (FPL), have been limited by technical difficulties. The aim of this study was to describe a surface electrode recording technique of investigating the AIN by recording compound muscle action potentials (CMAPs) from FPL. CMAP responses exhibited a negative onset, suggesting that they originated from FPL, and this was confirmed by needle recording. Normative data has been established that may prove useful in future studies assessing pathological involvement of the anterior interosseous nerve.

Seventy-five consecutive patients with clinical symptoms and signs of meralgia paresthetica underwent bilateral somatosensory evoked potential (SEP) studies involving stimulation of skin areas innervated by the lateral and anterior femoral cutaneous nerves of the thighs. The most common abnormality was an absolute lateral femoral cutaneous SEP latency > 40 ms in 35 patients (47%), followed by an absent response in 14 patients (19%), an absolute latency < 40 ms but amplitude reduction > 50% compared with the contralateral response in 8 patients (11%), and an absolute latency < 40 ms but > 5 ms interside latency difference in 5 patients (7%). Anterior femoral cutaneous SEPs were of value in distinguishing meralgia paresthetica from a proximal lumbar radiculopathy in an additional 4 patients and confirming bilateral meralgia paresthetica in 10 patients.