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Objective: To determine the prevalence of chronic polyneuropathy in an unselected community-dwelling population of middle-aged and elderly people. Methods: The current study was embedded in the prospective, population-based Rotterdam Study. Between June 2013 and October 2015, 1,310 participants (mean age 70 years, 55% female) were screened for the presence of polyneuropathy. This screening consisted of a questionnaire, neurologic examination, and nerve conduction studies. Polyneuropathy was diagnosed by a consensus panel that categorized participants into no, possible, probable, or definite polyneuropathy, depending on the level of abnormality of the screening. Medical records were scrutinized to evaluate whether the disorder was diagnosed before and laboratory investigations were performed to determine the presence of associated risk factors. Results: Prevalence of definite polyneuropathy was 5.5% (95% confidence interval 4.4–6.9), age-standardized to the population of the Netherlands 4.0% (3.1–5.3). Prevalence was higher in male participants (6.7% compared to 4.5%) and increased with age. When combining probable and definite polyneuropathy, age-standardized prevalence was 9.4% (7.9–11.1). Almost half of the polyneuropathies (49%) were newly diagnosed. The majority of polyneuropathies were idiopathic (46%). Diabetes, present in 31% of participants with polyneuropathy, was the most commonly found risk factor. Conclusions: Prevalence of polyneuropathy in the general middle-aged and elderly population is at least 4%, and increases with age. Almost half of the cases were newly diagnosed, indicating that the presence of polyneuropathy is underreported or underdiagnosed. Currently, almost half of the polyneuropathies are idiopathic. Future prospective cohort studies should focus on identifying new determinants of polyneuropathy.

We performed a prospective study in 32 patients with Guillain-Barre syndrome (GBS) or its variants to correlate intraepidermal nerve fiber density (IENFD) at the distal leg and lumbar region with pain, autonomic dysfunction, and outcome. In the acute phase, IENFD was reduced in 60% and 61.9% of patients at the distal leg and lumbar region, respectively. In the acute phase, 43.7% of patients complained of neuropathic pain. Their IENFD at the distal leg was significantly lower than in patients without pain (P < .001) and correlated with pain intensity (r(s) = -0.51; P = .003). Intriguingly, also patients with the pure motor variant of GBS and pain had low IENFD. At 6-month follow-up, only 3 patients complained of persisting neuropathic pain, whereas 3 patients reported late-onset pain symptoms. IENFD in the acute phase did not predict presence or intensity of pain at 6-month follow-up. IENFD in the acute phase did not correlate with clinical dysautonomia or GBS severity at nadir. However, it correlated with poorer GBS disability score at 6 months (P = .04), GBS score at nadir (P = .03), and clinically probable dysautonomia (P = .004). At 6-month follow-up, median IENFD remained significantly low both at the distal leg (P = .024) and lumbar region (P = .005). Double and triple staining confocal microscope studies showed diffuse damage of myelinated dermal nerves along with axonal degeneration, and mononuclear cell infiltration. Unmyelinated and myelinated skin nerves are diffusely affected in GBS and its variants, including the pure motor form. IENFD declines early, remains low over time, correlates with pain severity in the acute phase, and may predict long-term disability. (C) 2011 International Association for the Study of Pain. Published by Elsevier B. V. All rights reserved.

Purpose of the review Guillain-Barre syndrome (GBS), chronic inflammatory demyelinating poly(radiculo)neuropathy (CIDP) and multifocal motor neuropathy (MMN) are potentially treatable disorders. The use of appropriate assessment scales to evaluate the effects of treatment is essential. Recent therapeutic trials and the question of whether patients with mild disease or other variants of these disorders need to be treated are discussed. Recent findings Recent clinical trials and Cochrane reviews give new information on the effect of various treatments in patients with GBS, CIDP and MMN. Intravenous immunoglobulin remains the only treatment proven to be effective in MMN. Combinations of treatment may be even more effective in GBS. Studies on prognostic factors related to improvement have been reported. Whether patients with Miller-Fisher syndrome or those with mild GBS should also be treated is still debated. New assessment scales at the disability and handicap level have now been evaluated for GBS and CIDP, and are ready for use. Results of studies in experimental models contribute to our understanding of the mechanism of action of intravenous immunoglobulin. Summary Recent new information on the use of intravenous immunoglobulin and steroids indicates that the former should remain the cornerstone of treatment for GBS and MMN, and probably also for CIDP. Whether steroids not only suppress disease activity in CIDP but also eradicate the disease remains to be established. Some GBS patients have secondary deterioration or finally turn out to have CIDP; additional information in this group of patients may lead to more appropriate disease management. Most patients with CIDP and those with MMN need long-term treatment. New treatment strategies should now focus also on the effect and the costs of treatment over long-term follow up.

Objective: To perform Anoctamin 5 (ANO) mutation analysis, neurological and cardiological examination in the genetically undiagnosed remainder of the Dutch limb girdle muscular dystrophy (LGMD) cohort encompassing 105 patients from 68 families and in a proportion of a cohort of 22 patients from 16 families with a Miyoshi-type muscular dystrophy (MMD) in which no dysferlin mutations were found. Background ANO 5 mutations have recently been found to cause LGMD2L, MMD3 and asymptomatic hyperCKemia. Design/Methods: Neurological examination, cardiological investigations (i.e. electrocardiography, Holter monitoring, echocardiography), serum creatine kinase (sCK) activity assessments and ANO 5 mutation analysis were performed in LGMD and MMD patients. Results: 32 LGMD index patients and 12 MMD3 patients from 8 kindreds were examined. ANO 5 mutations were found in 13 sporadic LGMD cases (8 males). Age at onset ranged from 21-57 years, age at examination from 26-69. Symmetrical proximal leg muscle weakness had been the first manifestation. Rhabdomyolysis attacks were mentioned in one patient, and three had cardiological abnormalities, including intraventricular septum thickening (2) and hypertrophic cardiomyopathy (1). SCK was 10-25 times the upper limit of normal (ULN). In 8 patients (all male) from 6 MMD families mutations were identified. Age at onset ranged from 18-51 years and age at examination from 30-67. Uni- or bilateral calf muscle weakness had been the presenting symptom in 7 patients and one had been asymptomatic at time of diagnosis. SCK was 20-40 times ULN. None had associated symptoms and cardiological examination was normal. Exon 5 c.191dupA was the most frequently observed mutation and in addition novel mutations were identified. Conclusions: 1. LGMD 2L is found in 16% of the Dutch LGMD families and MMD3 in 40% of the MMD families.2. In three LGMD2L patients heart involvement was found and in none of the MMD3 patients. Disclosure: Dr. De Visser has received research support from Biogen Idec. Dr. van der Kooi has received research support from Biogen Idec. Dr. Linssen has nothing to disclose. Dr. Ginjaar has nothing to disclose. Dr. Wokke has received research support from Genzyme Corporation. Dr. van Doorn has received personal compensation for activities with Talecris, ZLB, Baxter, and Octapharma. Dr. van Doorn has received research support from Baxter.