Journal of the Peripheral Nervous System This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Issue Information – Editorial Board
(Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - September 3, 2016 Category: Neurology Tags: ISSUE INFORMATION Source Type: research

Handwriting difficulties of children with Charcot ‐Marie‐Tooth disease type 1A
Abstract Hand weakness and impaired manual dexterity have been reported in children with Charcot‐Marie‐Tooth disease type 1A (CMT1A). This early onset of upper limb involvement might explain frequent clinical referrals for assessment and treatment of impaired handwriting performance. The aim of this study was to examine the impact of CMT1A on handwriting speed and legibility, and identify demographic, anthropometric and physical measures that might relate to handwriting performance. Handwriting speed (Handwriting Speed Test), handwriting legibility (Evaluation Tool of Children's Handwriting‐Cursive) and hand strength...
Source: Journal of the Peripheral Nervous System - August 31, 2016 Category: Neurology Authors: Daniel Kunovsky, Reinie Cordier, Paula Bray, Joshua Burns Tags: RESEARCH REPORTS Source Type: research

Determinants of Health ‐Related Quality of life in anti‐MAG neuropathy: a cross‐sectional multicentre European study
Abstract Our objective was to assess determinants of quality of life (QoL) in anti‐myelin associated glycoprotein antibody (MAG) neuropathy. The SF‐36 questionnaire was assessed in 55 patients, from Marseille, Angers (France) and Birmingham (United Kingdom). Routine clinical evaluations included MRC sum score, INCAT sensory score, Inflammatory Rasch‐built Overall Disability Score (I‐RODS), ataxia score, Jamar grip dynamometry, timed 10 m‐walk, Neuropathic Pain Symptom Inventory (NPSI) score, and Fatigue Severity Score (FSS). Physical Component Summary (PCS) and Mental Component Summary (MCS) of the SF36 questio...
Source: Journal of the Peripheral Nervous System - August 31, 2016 Category: Neurology Authors: Emilien Delmont, Fu Liong Hiew, Julien Cassereau, Anne ‐Catherine Aubé‐Nathier, Aude‐Marie Grapperon, Shahram Attarian, Yusuf A. Rajabally Tags: RESEARCH REPORTS Source Type: research

Clinical features of familial amyloid polyneuropathy carrying transthyretin mutations in four Chinese kindreds
In this study, we reviewed the clinical and electrophysiological features of four unrelated Chinese families with genetically confirmed TTR‐FAP. Sequence analysis of TTR gene revealed the presence of four different mutations: Thr49Ala(p.Thr69Ala), Leu55Arg(p.Leu75Arg), Tyr116Ser(p.Tyr136Ser), and Ala 36Pro(p. Ala56Pro) from six affected patients and two asymptomatic individuals. Two mutations, Thr49Ala (p.Thr69Ala) and Tyr116 Ser(p.Tyr136 Ser), were detected in Chinese FAP patients for the first time. All affected patients manifested a progressive sensorimotor polyneuropathy starting in the lower limbs. The majority of t...
Source: Journal of the Peripheral Nervous System - August 31, 2016 Category: Neurology Authors: Gonglu Liu, Wang Ni, Hongxia Wang, Hongfu Li, Yue Zhang, Ning Wang, Zhiying Wu Tags: RESEARCH REPORTS Source Type: research

Clinical and genetic spectra of Charcot ‐Marie‐Tooth disease in Chinese Han patients
This study aimed to analyze the electrophysiological and genetic characteristics of Chinese Han patients. 106 unrelated patients with the clinical diagnosis of CMT were included. Clinical examination, nerve conduction studies (NCS), next‐generation sequencing (NGS), and bioinformatic analyses were performed. Genetic testing was performed for 82 patients; 27 (33%) patients carried known CMT‐associated gene mutations. PMP22 duplication was detected in 10 (12%) patients and GJB1 mutations in 9 (11%) patients. The mutation rate was higher in patients with a positive family history than in the sporadic cases (50% versus 27%...
Source: Journal of the Peripheral Nervous System - August 31, 2016 Category: Neurology Authors: Bo Sun, Zhaohui Chen, Li Ling, Fei Yang, Xusheng Huang Tags: RESEARCH REPORTS Source Type: research

Inhibition of Complement in Guillain ‐Barré Syndrome: The ICA‐GBS Study
We report the first use of terminal complement pathway inhibition with eculizumab in humans with GBS. In a randomised, double‐blind, placebo‐controlled trial, 28 subjects eligible on the basis of GBS disability grade of at least 3 were screened, of whom 8 (29%) were randomised. Five received eculizumab for four weeks, alongside standard intravenous immunoglobulin treatment. The safety outcomes, monitored via adverse events capture, showed eculizumab to be well tolerated and safe when administered in conjunction with IVIg. Primary and secondary efficacy outcomes in the form of GBS disability scores, MRC sum scores, Rasc...
Source: Journal of the Peripheral Nervous System - August 31, 2016 Category: Neurology Authors: Amy I Davidson, Susan K Halstead, John A Goodfellow, Govind Chavada, Arup Mallik, James Overell, Michael P Lunn, Alex McConnachie, Pieter van Doorn, Hugh J Willison Tags: RESEARCH REPORTS Source Type: research

Histopathological features of a patient with Charcot ‐Marie‐Tooth disease type 2U/ AD‐CMTax‐MARS
We report the detailed histopathological findings in a patient with CMT2U/ AD‐CMTax‐MARS. The findings are similar to those found in CMT2D caused by mutations in the GARS gene, encoding glycyl‐tRNA synthetase. (Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - August 31, 2016 Category: Neurology Authors: Makito Hirano, Nobuyuki Oka, Akihiro Hashiguchi, Shuichi Ueno, Hikaru Sakamoto, Hiroshi Takashima, Yujiro Higuchi, Susumu Kusunoki, Yusaku Nakamura Tags: Case Report Source Type: research

Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutations
In this study, we characterized the structure of mitochondrial network in cultured primary fibroblasts obtained from AR‐CMT2A family members. The patient‐derived cells showed an increase of the mitochondrial fusion with large connected networks and an increase of the mitochondrial volume. Interestingly, fibroblasts derived from the two asymptomatic parents showed similar changes to a lesser extent. These results support the hypothesis that AR‐CMT2A‐related MFN2 mutations acts through a semidominant negative mechanism and suggest that other biological parameters might show mild alterations in asymptomatic heterozygo...
Source: Journal of the Peripheral Nervous System - August 31, 2016 Category: Neurology Authors: Philippe Codron, Arnaud Chevrollier, Mariame Selma Kane, Andoni Echaniz ‐Laguna, Philippe Latour, Pascal Reynier, Dominique Bonneau, Christophe Verny, Vincent Procaccio, Guy Lenaers, Julien Cassereau Tags: CASE REPORT Source Type: research

Relationship between physical performance and quality of life in Charcot ‐Marie‐Tooth disease: a pilot study
Abstract Charcot‐Marie‐Tooth (CMT) is a rare inherited peripheral neuropathy in which quality of life (QoL) is reduced compared to the general population. This paper investigates the relationship between QoL and physical performance in people with CMT with the aim of identifying avenues for future research into rehabilitation strategies. Cross‐sectional data was obtained from 10 participants (5 men, 5 women, age 46 ± 13 y, height 1.7 ± 0.1 m, body mass 77 ± 17 kg) with CMT (CMT1A n = 5; CMT‐X n = 3; unknown genetic origin n = 3). Participants were evaluated for QoL, falls efficacy (FES), balance,...
Source: Journal of the Peripheral Nervous System - August 31, 2016 Category: Neurology Authors: Daniel Roberts ‐Clarke, Che Fornusek, Nidhi Saigal, Mark Halaki, Joshua Burns, Garth Nicholson, Maria Fiatarone Singh, Daniel Hackett Tags: RESEARCH REPORTS Source Type: research

Asymptomatic Dengue infection may trigger Guillain ‐Barré syndrome
(Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - August 31, 2016 Category: Neurology Authors: Thirugnanam Umapathi, Christen Sheng Jie Lim, Eng Eong Ooi, Summer L. Zhang, Eunice Jin Hui Goh, Hwee Cheng Tan, Kelly Yi Shi Chng, Hugh Willison Tags: LETTER TO THE EDITOR Source Type: research

Guillain ‐Barré syndrome in Bangladesh: validation of Brighton criteria
Abstract Guillain‐Barré syndrome has a diverse clinical phenotype related to geographical origin. To date, the majority of large‐scale studies on Guillain‐Barré syndrome (GBS) have been conducted in developed countries. We aimed to evaluate the key diagnostic features and assess the suitability of the Brighton criteria in 344 adult GBS patients from Bangladesh. All patients fulfilled the National Institute of Neurological Diseases and Stroke (NINDS) diagnostic criteria. Standardized data on demographic characteristics and clinical features, cerebrospinal fluid (CSF) analysis and nerve conduction study (NCS) results...
Source: Journal of the Peripheral Nervous System - August 31, 2016 Category: Neurology Authors: Mohammad Badrul Islam, Zhahirul Islam, Kaniz Sharmin Farzana, Sumit Kumar Sarker, Hubert P Endtz, Quazi Deen Mohammad, Bart C. Jacobs Tags: RESEARCH REPORTS Source Type: research

Serum micronutrients and prealbumin during development and recovery of chemotherapy ‐induced peripheral neuropathy
Abstract Chemotherapy‐induced peripheral neuropathy (CIPN) is a frequent adverse event. Nutritional status can become impaired in cancer patients, potentially contributing to neuropathy's evolution. Our aim was to evaluate serum micronutrients and prealbumin in a cohort of 113 solid‐cancer patients receiving platinum and taxane compounds during the development and recovery of neuropathy, up to one year after finishing treatment. CIPN was graded according with Total Neuropathy Score© and NCI.CTCv3, at T0 (baseline), T1 (1–3 months) and T12 (12 months) after chemotherapy. CIPN was classified as asymptomatic (< gr...
Source: Journal of the Peripheral Nervous System - June 9, 2016 Category: Neurology Authors: Roser Velasco, Cristina Santos, Gemma Soler, Miguel Gil ‐Gil, Sonia Pernas, Maica Galan, Ramon Palmero, Jordi Bruna Tags: RESEARCH REPORTS Source Type: research

Gait in children and adolescents with Charcot ‐Marie‐Tooth disease: a systematic review
Abstract Symptoms of Charcot‐Marie‐Tooth disease (CMT) typically arise in childhood or adolescence with gait difficulty most common. A systematic review was conducted to synthesize, review and characterise gait in pediatric CMT. Health related electronic databases were reviewed with search terms related to CMT and gait. Of 454 articles, ten articles describing seven studies met eligibility criteria; samples ranged from 1‐81, included mixed CMT subtypes and had a participant mean age of 13 years. Assessments included a variety of methods to examine only barefoot gait. Heterogeneity of gait patterns was noted. Children...
Source: Journal of the Peripheral Nervous System - May 31, 2016 Category: Neurology Authors: Rachel A. Kennedy, Kate Carroll, Jennifer L. McGinley Tags: REVIEW Source Type: research

Incidence of Guillain ‐Barré Syndrome in Chile: A Population‐Based Study
Abstract The Guillain‐Barre Syndrome (GBS) incidence rate (IR) varies between 0.16 and 3.00 cases per 100,000 inhabitants. Little data exist on the epidemiology of GBS in Latin American countries. Our objective was to describe GBS epidemiology based on a national database in a Latin American country and to contribute to the global map of GBS epidemiology. This was a retrospective study that included all reported GBS cases in Chile between 2001 and 2012. Gender, age, seasonal occurrence, and geographical distribution were analyzed. 4,158 GBS cases were identified from 19,513,655 registries. The mean age was 37 ± 24�...
Source: Journal of the Peripheral Nervous System - May 31, 2016 Category: Neurology Authors: Gonzalo Rivera ‐Lillo, Rodrigo Torres‐Castro, Pablo Burgos, Gonzalo Varas‐Díaz, Roberto Vera‐Uribe, Homero Puppo, Mauricio Hernández Tags: RESEARCH REPORTS Source Type: research

Late onset dHMN II caused by c.404C > G mutation in HSPB1 gene
We report three siblings of a German family with late onset distal motor neuropathy due to the c.404C>G mutation in heat‐shock 27‐kDa protein 1 gene (HSPB1/HSP27). A 36‐year‐old mutation carrier, daughter of one sibling, did not present any clinical or electrophysiological abnormalities. The index patient (oldest brother) developed weakness of the distal lower limbs and nocturnal muscle cramps at the age of 54. After 5 years this patient developed an l‐DOPA‐responsive hypokinetic rigid syndrome, establishing a diagnosis of Parkinson's disease. Although none of the three other mutation carriers displayed Park...
Source: Journal of the Peripheral Nervous System - May 31, 2016 Category: Neurology Authors: Moritz Oberstadt, Diana Mitter, Joseph Classen, Petra Baum Tags: CASE REPORT Source Type: research