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.

MFN2‐related genetic and clinical features in a cohort of Chinese CMT2 patients
ConclusionWe report four novel mutations and four rare missense variants. MFN2 mutations account for 18% of CMT2 families in mainland China. The common characteristics of Chinese pedigree are early disease onset and moderate phenotypes. (Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - January 23, 2016 Category: Neurology Authors: Xie YZ, Li XB, Liu L, Hu ZM, Huang SHX, Zhan YJ, Zi XH, Xia K, Tang BS, Zhang RX Tags: RESEARCH REPORT Source Type: research

A proposed dosing algorithm for the individualized dosing of human immunoglobulin in chronic inflammatory neuropathies
Abstract Dosing guidelines for immunoglobulin treatment in neurological disorders do not consider variations in immunoglobulin half‐life or between patients. Individualisation of therapy could optimize clinical outcomes and help control costs. We developed an algorithm to optimize immunoglobulin dose based on patient's response and present this here as an example of how dosing might be individualized in a pharmacokinetically rational way and how this achieves potential dose and cost savings. Patients are ‘normalized’ with no more than two initial doses of 2g/kg, identifying responders. A third dose is not administere...
Source: Journal of the Peripheral Nervous System - January 12, 2016 Category: Neurology Authors: Michael P Lunn, Lauren Ellis, Robert D Hadden, Yusuf A. Rajabally, John B. Winer, Mary M Reilly Tags: RESEARCH REPORTS Source Type: research

Long‐term efficacy of rituximab in IgM anti‐myelin‐associated glycoprotein neuropathy: RIMAG follow‐up study
This study stresses the lack of useful clinical scales, sensitive enough to capture small, even meaningful, improvement in IgM anti‐MAG neuropathy. (Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - January 8, 2016 Category: Neurology Authors: Ruxandra Iancu Ferfoglia, Raquel Guimarães‐Costa, Karine Viala, Lucile Musset, Jean Neil, Benoit Marin, Jean‐Marc Léger Tags: RESEARCH REPORTS Source Type: research

A novel heat shock protein 27 homozygous mutation: widening of the continuum between MND/dHMN/CMT2
(Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - December 13, 2015 Category: Neurology Authors: Marina Scarlato, Fiammetta Viganò, Paola Carrera, Stefano Carlo Previtali, Alessandra Bolino Tags: LETTER TO THE EDITOR Source Type: research

Innovative quantitative testing of hand function in Charcot‐Marie‐Tooth neuropathy
Abstract To describe a new test to quantitatively evaluate hand function in patients affected by Charcot‐Marie‐Tooth neuropathy (CMT). The sensor‐engineered glove test (SEGT) was applied to CMT patients (N: 26) and compared with a cohort of healthy controls (HC, N: 26). CMT patients were further divided into subjects with clinically normal (group 1) or impaired hand (group 2) function. The SEGT parameters evaluated were touch duration, inter‐tapping interval, and movement rate parameters of two different sequences: finger tapping (FT) and index‐medium‐ring‐little (IMRL) performed at self‐paced mode (SPM) an...
Source: Journal of the Peripheral Nervous System - December 13, 2015 Category: Neurology Authors: Maria A. Alberti, Laura Mori, Luca Francini, Ilaria Poggi, Margherita Monti Bragadin, Emilia Bellone, Marina Grandis, Giovanni Maggi, Lizia Reni, Maria P. Sormani, Andrea Tacchino, Luca Padua, Valeria Prada, Marco Bove, Angelo Schenone Tags: RESEARCH REPORTS Source Type: research

Caffeine prevents antihyperalgesic effect of gabapentin in an animal model of CRPS‐I: evidence for the involvement of spinal adenosine A1 receptor
This study was designed to determine whether 3 weeks of gabapentin treatment is effective in alleviating neuropathic pain‐like behavior in animal models of complex regional pain syndrome type‐I and partial sciatic nerve ligation (PSNL). We investigated the contribution of adenosine subtypes to the antihyperalgesic effect of gabapentin by examining the effect of caffeine, a non‐selective adenosine A1 and A2 receptor antagonist or 1,3‐dipropyl‐8‐cyclopentylxanthine (DPCPX), a selective adenosine A1 subtype receptor antagonist on this effect. Neuropathic pain was produced by unilateral prolonged hind paw ischemia ...
Source: Journal of the Peripheral Nervous System - December 13, 2015 Category: Neurology Authors: Daniel F. Martins, Marcos R. B. Prado, Eduardo Daruge‐Neto, Ana P. Batisti, Aline A. Emer, Leidiane Mazzardo‐Martins, Adair R. S. Santos, Anna P. Piovezan Tags: RESEARCH REPORTS Source Type: research

Anti‐TNF alpha medications and neuropathy
Abstract We studied the clinical, electrophysiological, and pathological features, outcome, and frequency of anti‐tumor necrosis factor alpha (a‐TNF) medications‐induced neuropathies (ATIN) in patients with inflammatory disorders. Of 2,017 patients treated with a‐TNF medication, 12 patients met our inclusion criteria for a prevalence of 0.60% and an incidence of 0.4 cases per 1,000 person‐years. The median time from a‐TNF medication treatment to ATIN was 16.8 months (range 2–60 months). Six patients had focal or multifocal peripheral neuropathies. The other six had generalized neuropathies. For all, a‐TNF...
Source: Journal of the Peripheral Nervous System - December 13, 2015 Category: Neurology Authors: Pinelopi Tsouni, Olivier Bill, André Truffert, Christelle Liaudat, François Ochsner, Andreas J. Steck, Thierry Kuntzer Tags: RESEARCH REPORTS Source Type: research

Microsurgeons do better – tactile training might prevent the age‐dependent decline of the sensibility of the hand
This study demonstrates that long‐term tactile training might prevent the known age‐dependent decline of the sensibility of the hand. (Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - December 13, 2015 Category: Neurology Authors: Daniel Schmauss, Kai Megerle, Andrea Weinzierl, Kariem Agua, Michael Cerny, Verena Schmauss, Joern A. Lohmeyer, Hans‐Guenther Machens, Holger Erne Tags: RESEARCH REPORTS Source Type: research

“Red‐flag” symptom clusters in transthyretin familial amyloid polyneuropathy
Abstract BackgroundTransthyretin familial amyloid polyneuropathy (TTR‐FAP) is a rare, progressive, life‐threatening, hereditary disorder caused by mutations in the transthyretin gene and characterized by extracellular deposition of transthyretin‐derived amyloid fibrils in peripheral and autonomic nerves, heart, and other organs. TTR‐FAP is frequently diagnosed late because the disease is difficult to recognize due to phenotypic heterogeneity. MethodsBased on published literature and expert opinion, symptom clusters suggesting TTR‐FAP are reviewed, and practical guidance to facilitate earlier diagnosis is provided...
Source: Journal of the Peripheral Nervous System - December 13, 2015 Category: Neurology Authors: Isabel Conceição, Alejandra González‐Duarte, Laura Obici, Hartmut H.‐J. Schmidt, Damien Simoneau, Moh‐Lim Ong, Leslie Amass Tags: REVIEW Source Type: research

Small and large fiber neuropathy in those with type 1 and type 2 diabetes: a 5 year follow‐up study
Abstract The purpose of this study was to evaluate progression of diabetic polyneuropathy and differences in the spectrum and evolution of large and small fiber involvement in patients with diabetes type 1 and 2 over 5 years. Fifty‐nine patients (35 type 1 and 24 type 2) were included. Nerve conduction studies (NCS), quantitative sensory testing, skin biopsy for quantification of intraepidermal nerve fiber density (IENFD), symptom scoring and clinical evaluations were performed. Z‐scores were calculated to adjust for the physiologic effects of age and height/gender. Neuropathic symptoms were not significantly more freq...
Source: Journal of the Peripheral Nervous System - December 13, 2015 Category: Neurology Authors: Sissel Løseth, Erik V. Stålberg, Sigurd Lindal, Edel Olsen, Rolf Jorde, Svein I. Mellgren Tags: RESEARCH REPORTS Source Type: research

Late onset dHMN II caused by c.404C>G mutation in HSPB1 gene
We report 3 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 1 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 years old. Five years later this patient developed an L–DOPA‐responsive hypokinetic rigid syndrome, establishing a diagnosis of Parkinson's disease. Although none of the 3 other mutation carriers displayed Par...
Source: Journal of the Peripheral Nervous System - December 1, 2015 Category: Neurology Authors: Moritz Oberstadt, Diana Mitter, Joseph Classen, Petra Baum Tags: CASE REPORT Source Type: research

Involvement of sensory innervation in the skin of SOD1G93A ALS mice
Abstract Sensory alterations have been described in both amyotrophic lateral sclerosis (ALS) patients and mouse models. While involvement of intraepidermal and subepidermal axons have been shown in skin biopsies of ALS patients, it is unclear if the SOD1G93A mouse presents similar alterations. We analyzed the epidermal and dermal innervation, based on PGP9.5 immunostaining, of SOD1G93A mice at different stages. The results showed a marked reduction of intraepidermal nerve fibers, Meissner's corpuscles, and subepidermal nerve density already at 4 weeks. This loss of innervation progressed over time. Dermal axonal density de...
Source: Journal of the Peripheral Nervous System - December 1, 2015 Category: Neurology Authors: Miguel A. Rubio, Mireia Herrando‐Grabulosa, Jorge J. Vilches, Xavier Navarro Tags: RESEARCH REPORT Source Type: research

Painful diabetic neuropathy Anxiety Rasch‐Transformed Questionnaire (PART‐Q30©)
Abstract The association between painful diabetic neuropathy (PDN) and anxiety has been acknowledged using various anxiety scales capturing various fear entities. It has never been examined whether these generally applied anxiety questionnaires could be pooled to construct one overall anxiety metric. After completion by a cohort of 151 patients with PDN, data obtained from seven generally applied fear scales were stacked (n=88 items) and subjected to Rasch analyses (pre‐PART‐Q88) to create the Painful Diabetic Neuropathy (PDN) overall Anxiety Questionnaire (PART‐Q30©). We subsequently examined the impact of the fina...
Source: Journal of the Peripheral Nervous System - December 1, 2015 Category: Neurology Authors: Charlotte C. Geelen, Brigitte A. Brouwer, Janneke G.J. Hoeijmakers, Catharina G. Faber, Ingemar S.J. Merkies, Jeanine A. Verbunt Tags: RESEARCH REPORT Source Type: research

Efficacy and tolerability of different brands of intravenous immunoglobulin in the maintenance treatment of chronic immune mediated neuropathies
Abstract High dose intravenous immunoglobulin (IVIg) is effective in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and multifocal motor neuropathy (MMN). Not all brands of IVIg are however licensed for these neuropathies. We reviewed six patients with CIDP and seven with MMN treated with maintenance therapy with IVIg from 2009 to 2013. In all patients, we measured the Medical Research Council (MRC) and Overall Neuropathy Limitation Scale (ONLS) scores before each infusion, registered the monthly dose and brand of IVIg, and recorded adverse events. Patients were treated for 25–60 months (mean 49 months)...
Source: Journal of the Peripheral Nervous System - December 1, 2015 Category: Neurology Authors: Francesca Gallia, Claudia Balducci, Eduardo Nobile‐Orazio Tags: RESEARCH REPORT Source Type: research

X‐linked Charcot‐Marie‐Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene
This study identified the p.R158H PDK3 mutation after screening 67 probable X‐linked CMT families. The mutation fully segregated with the phenotype, and genotyping the family indicated the mutation arose on a different haplotype compared to the original Australian CMTX6 family. Results of bisulphite sequencing suggest that methylated deamination of a CpG dinucleotide may cause the recurrent p.R158H mutation. The frequency of the p.R158H PDK3 mutation in Koreans is very rare. Magnetic resonance imaging revealed fatty infiltration involving distal muscles in the lower extremities. In addition, fatty infiltrations were pred...
Source: Journal of the Peripheral Nervous System - December 1, 2015 Category: Neurology Authors: Marina L. Kennerson, Eun Ja Kim, Anna Siddell, Aditi Kidambi, Sung Min Kim, Young Bin Hong, Sun Hee Hwang, Ki Wha Chung, Byung‐Ok Choi Tags: RESEARCH REPORT Source Type: research