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Journal of the Peripheral Nervous System: JPNS

Emilien Delmont, Fu Liong Hiew, Julien Cassereau, Anne-Catherine Aubé-Nathier, Aude-Marie Grapperon, Shahram Attarian, Yusuf A Rajabally
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)...
November 21, 2016: Journal of the Peripheral Nervous System: JPNS
Gonglu Liu, Wang Ni, Hongxia Wang, Hongfu Li, Yue Zhang, Ning Wang, Zhiying Wu
Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is a rare hereditary disorder, characterized by a length-dependent polyneuropathy and dysfunction of various organs. Wide phenotypic heterogeneity makes early diagnosis difficult. 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...
November 17, 2016: Journal of the Peripheral Nervous System: JPNS
Bo Sun, Zhaohui Chen, Li Ling, Fei Yang, Xusheng Huang
Charcot-Marie-Tooth disease (CMT) is a common hereditary motor and sensory neuropathy. Epidemiological data for Chinese CMT patients are few. 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...
November 8, 2016: Journal of the Peripheral Nervous System: JPNS
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
The outcome of Guillain-Barré syndrome remains unchanged since plasma exchange and intravenous immunoglobulin were introduced over 20 years ago. Pathogenesis studies on GBS have identified the terminal component of complement cascade as a key disease mediator and therapeutic target. 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...
November 1, 2016: Journal of the Peripheral Nervous System: JPNS
Makito Hirano, Nobuyuki Oka, Akihiro Hashiguchi, Shuichi Ueno, Hikaru Sakamoto, Hiroshi Takashima, Yujiro Higuchi, Susumu Kusunoki, Yusaku Nakamura
Charcot-Marie-Tooth (CMT) disease is a complex of peripheral nervous system disorders. CMT type 2U (CMT2U) is an autosomal dominant disease caused by mutations in the MARS gene encoding methionyl-tRNA synthetase; this disease has thus been newly called AD-CMTax-MARS. A few families with mutations in the MARS gene have been reported, without detailed histopathological findings. We describe a 70-year-old woman who had bilateral dysesthesia of the soles since the age of 66 years. Sural nerve biopsy showed a decrease in the density of large myelinated nerve fibers...
October 7, 2016: Journal of the Peripheral Nervous System: JPNS
Philippe Codron, Arnaud Chevrollier, Mariame Selma Kane, Andoni Echaniz-Laguna, Philippe Latour, Pascal Reynier, Dominique Bonneau, Christophe Verny, Vincent Procaccio, Guy Lenaers, Julien Cassereau
Charcot-Marie-Tooth type 2A disease (CMT2A) is an inherited peripheral neuropathy mainly caused by mutations in the MFN2 gene coding for the mitochondrial fusion protein Mitofusin 2. Although the disease is mainly inherited in a dominant fashion, few cases of early-onset autosomal recessive CMT2A (AR-CMT2A) have been reported in recent years. 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...
October 5, 2016: Journal of the Peripheral Nervous System: JPNS
Daniel Roberts-Clarke, Che Fornusek, Nidhi Saigal, Mark Halaki, Joshua Burns, Garth Nicholson, Maria Fiatarone Singh, Daniel Hackett
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)...
October 4, 2016: Journal of the Peripheral Nervous System: JPNS
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
No abstract text is available yet for this article.
September 26, 2016: Journal of the Peripheral Nervous System: JPNS
Mohammad Badrul Islam, Zhahirul Islam, Kaniz Sharmin Farzana, Sumit Kumar Sarker, Hubert P Endtz, Quazi Deen Mohammad, Bart C Jacobs
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 were elaborated to measure the sensitivity of Brighton criteria...
September 12, 2016: Journal of the Peripheral Nervous System: JPNS
Jee-Eun Kim, Jong Kuk Kim, Kang Min Park, Yerim Kim, Dae Young Yoon, Jong Seok Bae
Since the first description of Guillain-Barré syndrome (GBS) 100 years ago, the concept of this syndrome has changed remarkably. The purpose of our study was to identify and characterize the most-cited articles that have contributed to advancing the understanding of GBS. Based on the database of Journal Citation Reports, we selected 554 journals that were considered as potential sources of reports on studies related to clinical neurology and general medicine. The Web of Science search tools were used to identify the most-cited articles relevant to GBS or other variants in the selected journals...
September 12, 2016: Journal of the Peripheral Nervous System: JPNS
(no author information available yet)
No abstract text is available yet for this article.
September 2016: Journal of the Peripheral Nervous System: JPNS
Roser Velasco, Cristina Santos, Gemma Soler, Miguel Gil-Gil, Sonia Pernas, Maica Galan, Ramon Palmero, Jordi Bruna
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 1 year after finishing treatment. CIPN was graded according to Total Neuropathy Score(©) and NCI.CTCv3 at T0 (baseline), T1 (1-3 months), and T12 (12 months) after chemotherapy...
September 2016: Journal of the Peripheral Nervous System: JPNS
Robin Fox, John Ealing, Helen Murphy, David P Gow, David Gosal
DNA methyltransferase 1 (DNMT1) is an enzyme which has a role in methylation of DNA, gene regulation, and chromatin stability. Missense mutations in the DNMT1 gene have been previously associated with two neurological syndromes: hereditary sensory and autonomic neuropathy type 1 with dementia and deafness (HSAN1E) and autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN). We report a case showing overlap of both of these syndromes plus associated clinical features of common variable immune deficiency, scleroderma, and endocrinopathy that could also be mutation associated...
September 2016: Journal of the Peripheral Nervous System: JPNS
Max E Adrichem, Filip Eftimov, Ivo N van Schaik
Intravenous immunoglobulin (IVIg) is often used as preferred treatment in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Several studies highlighted the short-term efficacy of IVIg for CIDP yet many patients need maintenance therapy. Notwithstanding the fact IVIg has been used for over 30 years in CIDP, there is only limited evidence to guide dosage and interval during maintenance treatment. The variation in disease course, lack of biomarkers, and fear of deterioration after stopping IVIg makes long-term treatment challenging...
September 2016: Journal of the Peripheral Nervous System: JPNS
Giuseppe Piscosquito, Paola Saveri, Stefania Magri, Claudia Ciano, Claudia Gandioli, Michela Morbin, Daniela D Bella, Isabella Moroni, Franco Taroni, Davide Pareyson
Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive (AR) demyelinating neuropathy associated to SH3TC2 mutations, characterized by early onset, spine deformities, and cranial nerve involvement. We screened 43 CMT4 patients (36 index cases) with AR inheritance, demyelinating nerve conductions, and negative testing for PMP22 duplication, GJB1 and MPZ mutations, for SH3TC2 mutations. Twelve patients (11 index cases) had CMT4C as they carried homozygous or compound heterozygous mutations in SH3TC2...
September 2016: Journal of the Peripheral Nervous System: JPNS
Paola Alberti, Matteo Parma, Pietro Pioltelli, Enrico Maria Pogliani, Elisabetta Terruzzi, Alessandra Stasia, Elisa Doni, Caterina Cecchetti, Guido Cavaletti
No abstract text is available yet for this article.
September 2016: Journal of the Peripheral Nervous System: JPNS
Aysel Cetinkaya-Fisgin, Min Geol Joo, Xiang Ping, Nitish V Thakor, Cengizhan Ozturk, Ahmet Hoke, In Hong Yang
Paclitaxel (PTX) is among the most commonly used cancer drugs that cause chemotherapy-induced peripheral neuropathy (CIPN), a debilitating and serious dose-limiting side effect. Currently, no drugs exist to prevent CIPN, and symptomatic therapy is often ineffective. In order to identify therapeutic candidates to prevent axonal degeneration induced by PTX, we carried out a phenotypic drug screening using primary rodent dorsal root ganglion sensory neurons. We identified fluocinolone acetonide as a neuroprotective compound and verified it through secondary screens...
September 2016: Journal of the Peripheral Nervous System: JPNS
Rachel A Kennedy, Kate Carroll, Jennifer L McGinley
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...
August 11, 2016: Journal of the Peripheral Nervous System: JPNS
Gonzalo Rivera-Lillo, Rodrigo Torres-Castro, Pablo Burgos, Gonzalo Varas-Díaz, Roberto Vera-Uribe, Homero Puppo, Mauricio Hernández
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...
August 1, 2016: Journal of the Peripheral Nervous System: JPNS
Juan Buades-Reinés, Manuel Raya-Cruz, Cristina Gallego-Lezaún, Tomás Ripoll-Vera, Mercedes Usón-Martín, Hernán Andreu-Serra, Eugenia Cisneros-Barroso
The age of onset (AO) of hereditary ATTR Amyloidosis (hATTR) is known to vary between populations, with differing characteristics reported according to AO in endemic/non-endemic foci. This was a retrospective study of patients with early AO (<50 years) and late AO (≥50 years) hATTR at our center in Mallorca. Data were collected on patient demographics, clinical disease manifestation, and physical symptoms. A total of 95 patients were analyzed, with mean follow-up of 9 years from diagnosis. The early AO group included 53 patients (33 male) and the late AO group included 42 patients (21 male)...
July 12, 2016: Journal of the Peripheral Nervous System: JPNS
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