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.

Peripheral neuropathy and parkinsonism: a large clinical and pathogenic spectrum
This article reviews conditions in which PN may coexist with parkinsonism. (Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - January 13, 2015 Category: Neurology Authors: Anne Vital, Sebastien Lepreux, Claude Vital Tags: Review Source Type: research

Inverted formin 2‐related Charcot‐Marie‐Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons
Abstract Mutations in the gene encoding inverted formin FH2 and WH2 domain containing protein (INF2), a Cdc42 effector involved in the regulation of actin dynamics, cause focal segmental glomerulosclerosis (FSGS) and intermediate Charcot‐Marie‐Tooth neuropathy combined with FSGS (FSGS‐CMT). Here, we report on six patients from four families with sensorimotor polyneuropathy and FSGS. Nerve conduction velocities were moderately slowed and amplitudes of sensory and motor potentials were decreased. One patient had internal hydrocephalus and was intellectually disabled. Molecular genetic testing revealed two known and two...
Source: Journal of the Peripheral Nervous System - December 1, 2014 Category: Neurology Authors: Andreas Roos, Joachim Weis, Rudolf Korinthenberg, Henry Fehrenbach, Martin Häusler, Stephan Züchner, Christoph Mache, Holger Hubmann, Michaela Auer‐Grumbach, Jan Senderek Tags: Research Report Source Type: research

Discrepancies in quantitative assessment of normal and regenerated peripheral nerve fibers between light and electron microscopy
In this study we used a design‐based stereological method to evaluate the regenerative process in two experimental paradigms: crush injury and autograft repair. Samples were embedded in resin and morphometric counting and measurements were performed using both light and electron microscopy. Results show a significant difference in myelinated fiber number estimation between light and electron microscopy, especially after autograft repair; light microscopy significantly underestimates the number of fibers due to the large number of very small axons that can be detected only in electron microscopy. The analysis of the size ...
Source: Journal of the Peripheral Nervous System - November 24, 2014 Category: Neurology Authors: Giulia Ronchi, Sara B. Jager, Christian B. Vaegter, Stefania Raimondo, Maria Giuseppina Giacobini‐Robecchi, Stefano Geuna Tags: RESEARCH REPORT Source Type: research

Post‐traumatic stress symptoms in Guillain‐Barré syndrome patients after prolonged mechanical ventilation in ICU: a preliminary report
Abstract Thirty‐percent of Guillain‐Barré syndrome (GBS) patients require mechanical ventilation in ICU. Post‐traumatic stress disorder (PTSD) is found in ICU survivors, and the traumatic aspects of intubation and mechanical ventilation have been previously reported as risk factors for PTSD after ICU. Our objective was to determine long‐term PTSD or post‐traumatic stress symptoms in GBS patients after prolonged mechanical ventilation in ICU. We assessed GBS patients who had mechanical ventilation for more than two months. PTSD was assessed using Horowitz Impact of Event Scale (IES), IESRevisited (IES‐R) and th...
Source: Journal of the Peripheral Nervous System - November 18, 2014 Category: Neurology Authors: Loïc Le Guennec, Marion Brisset, Karine Viala, Fatiha Essardy, Thierry Maisonobe, Benjamin Rohaut, Sophie Demeret, Francis Bolgert, Nicolas Weiss Tags: RESEARCH REPORT Source Type: research

Exome sequencing reveals mutations in MFN2 and GDAP1 in severe Charcot‐Marie‐Tooth disease
Abstract The aim of our study was to electrophysiologically characterize and explain the genetic cause of severe CMT in a 3.5‐year‐old with asymptomatic parents and a maternal grandfather with a history of mild adult‐onset axonal neuropathy. Severity of neuropathy was assessed by Charcot‐Marie‐Tooth neuropathy score (CMTNS). Whole exome sequencing (WES) was performed using an Illumina TruSeq Exome Enrichment Kit on the HiSeq 1500 with results followed up by Sanger sequencing on an ABI Prism 3500XL. Paternity was confirmed using a panel of 15 hypervariable markers. Electrophysiological studies demonstrated severe ...
Source: Journal of the Peripheral Nervous System - November 18, 2014 Category: Neurology Authors: Anna Kostera‐Pruszczyk, Joanna Kosinska, Agnieszka Pollak, Piotr Stawinski, Anna Walczak, Krystyna Wasilewska, Anna Potulska‐Chromik, Piotr Szczudlik, Anna Kaminska, Rafal Ploski Tags: CASE REPORT Source Type: research

Psychometrics evaluation of Charcot‐Marie‐Tooth Neuropathy Score (CMTNSv2) second version, using Rasch analysis
Abstract Charcot‐Marie‐Tooth Neuropathy Score second version (CMTNSv2) is a validated clinical outcome measure developed for use in clinical trials to monitor disease impairment and progression in affected CMT patients. Currently, all items of CMTNSv2 have identical contribution to the total score. We used Rasch analysis to further explore psychometric properties of CMTNSv2, and in particular, category response functioning and their weight on the overall disease progression. Weighted category responses represent a more accurate estimate of actual values measuring disease severity and therefore could potentially be used...
Source: Journal of the Peripheral Nervous System - November 14, 2014 Category: Neurology Authors: Reza Sadjadi, Mary M. Reilly, Michael E. Shy, Davide Pareyson, Matilde Laura, Sinead Murphy, Shawna M.E. Feely, Tiffany Grider, Chelsea Bacon, Giuseppe Piscosquito, Daniela Calabrese, Ted M. Burns Tags: RESEARCH REPORT Source Type: research

Multifocal motor neuropathy: correlation of nerve ultrasound, electrophysiological, and clinical findings
We present nerve ultrasound findings in multifocal motor neuropathy (MMN) and examine their correlation with electrophysiology and functional disability. Eighty healthy controls and 12 MMN patients underwent clinical, sonographic, and electrophysiological evaluation a mean of 3.5 years (standard deviation [SD] ± 2.1) after disease onset. Nerve ultrasound revealed significantly higher cross‐sectional area (CSA) values of the median (forearm, p < 0.001), ulnar (p < 0.001), and tibial nerve (ankle, p < 0.001) when compared with controls. Electroneurography documented signs of significantly lower valu...
Source: Journal of the Peripheral Nervous System - September 23, 2014 Category: Neurology Authors: Antonios Kerasnoudis, Kalliopi Pitarokoili, Volker Behrendt, Ralf Gold, Min‐Suk Yoon Tags: RESEARCH REPORT Source Type: research

Correspondence between neurophysiological and clinical measurements of chemotherapy‐induced peripheral neuropathy: secondary analysis of data from the CI‐PeriNomS study
The objective of the current secondary analysis was to examine data from the CIPN Outcomes Standardization (CI‐PeriNomS) study for associations between clinical examinations and neurophysiological abnormalities. Logistic regression estimated the strength of associations of vibration, pin, and monofilament examinations with lower limb sensory and motor amplitudes. Examinations were classified as normal (0), moderately abnormal (1), or severely abnormal (2). Among 218 participants, those with class 1 upper extremity (UE) and classes 1 or 2 lower extremity (LE) monofilament abnormality were 2.79 (95% confidence interval [CI...
Source: Journal of the Peripheral Nervous System - September 23, 2014 Category: Neurology Authors: Kathleen A. Griffith, Susan G. Dorsey, Cynthia L. Renn, Shijun Zhu, Mary E. Johantgen, David R. Cornblath, Andreas A. Argyriou, Guido Cavaletti, Ingemar S. J. Merkies, Paola Alberti, Tjeerd J. Postma, Emanuela Rossi, Barbara Frigeni, Jordi Bruna, Roser Ve Tags: RESEARCH REPORT Source Type: research

Long‐term outcome of Guillain‐Barré syndrome in children
The objective of this study is to determine the long‐term outcome and consequences of Guillain‐Barré syndrome (GBS) in children. This is an observational cross‐sectional cohort study of children diagnosed with GBS (0–18 years old) at the Sophia Children's Hospital in Rotterdam from 1987 to 2009. All patients were invited for a structured interview, questionnaires, and full neurologic exam to record their current clinical condition focused on complaints and symptoms, neurological deficits, disabilities, behavior, and quality of life. Thirty‐seven patients participated, 23 were now adults, with a median age of 2...
Source: Journal of the Peripheral Nervous System - September 23, 2014 Category: Neurology Authors: Joyce Roodbol, Marie‐Claire Y. de Wit, Femke K. Aarsen, Coriene E. Catsman‐Berrevoets, Bart C. Jacobs Tags: RESEARCH REPORT Source Type: research

Painful neuropathies: the emerging role of sodium channelopathies
Abstract Pain is a frequent debilitating feature reported in peripheral neuropathies with involvement of small nerve (Aδ and C) fibers. Voltage‐gated sodium channels are responsible for the generation and conduction of action potentials in the peripheral nociceptive neuronal pathway where NaV1.7, NaV1.8, and NaV1.9 sodium channels (encoded by SCN9A, SCN10A, and SCN11A) are preferentially expressed. The human genetic pain conditions inherited erythromelalgia and paroxysmal extreme pain disorder were the first to be linked to gain‐of‐function SCN9A mutations. Recent studies have expanded this spectrum with gain‐of�...
Source: Journal of the Peripheral Nervous System - September 23, 2014 Category: Neurology Authors: Brigitte A. Brouwer, Ingemar S. J. Merkies, Monique M. Gerrits, Stephen G. Waxman, Janneke G. J. Hoeijmakers, Catharina G. Faber Tags: 2013 PERIPHERAL NERVE SOCIETY PLENARY LECTURE Source Type: research

Robert Benson Research Fellowshi
(Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - September 23, 2014 Category: Neurology Tags: ANNOUNCEMENT Source Type: research

PNS Prize for Research
(Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - September 23, 2014 Category: Neurology Tags: ANNOUNCEMENT Source Type: research

Cytoalbuminologic dissociation in Asian patients with Guillain‐Barré and Miller Fisher syndromes
Abstract Cerebrospinal fluid (CSF) protein level, cell count and its relationship to the timing of lumbar puncture were collected from patients with Guillain‐Barré syndrome (GBS) and Miller Fisher syndrome (MFS) from various Asian centers. A total of 507 patients with GBS were studied. Overall, 56% had elevated CSF protein level. This was significantly lower than that reported in a recent Dutch study (56% vs 64%). Cytoalbuminologic dissociation was also lower in the Asian cohort (55% vs 64%), with a significantly higher proportion of patients with mild pleocytosis (26% vs 15%). A lower proportion of the 164 patients wit...
Source: Journal of the Peripheral Nervous System - September 1, 2014 Category: Neurology Authors: Anna Hiu Yi Wong, Thirugnanam Umapathi, Yukihiro Nishimoto, Yu Zhong Wang, Yee Cheun Chan, Nobuhiro Yuki Tags: Research Report Source Type: research

Neurofilament light mutation causes hereditary motor and sensory neuropathy with pyramidal signs
Abstract To identify novel mutations causing hereditary motor and sensory neuropathy (HMSN) with pyramidal signs, a variant of Charcot–Marie–Tooth disease (CMT), we screened 28 CMT and related genes in 4 members of an affected Japanese family. Clinical features included weakness of distal lower limb muscles, foot deformity and mild sensory loss, then late onset of progressive spasticity. Electrophysiological studies revealed widespread neuropathy. Electron microscopic analysis showed abnormal mitochondria and mitochondrial accumulation in the neurons and Schwann cells. Brain MRI revealed an abnormally thin corpus callo...
Source: Journal of the Peripheral Nervous System - June 1, 2014 Category: Neurology Authors: Akihiro Hashiguchi, Yujiro Higuchi, Miwa Nomura, Tomonori Nakamura, Hitoshi Arata, Junhui Yuan, Akiko Yoshimura, Yuji Okamoto, Eiji Matsuura, Hiroshi Takashima Tags: Research Report Source Type: research

Charcot‐Marie‐Tooth disease: frequency of genetic subtypes in a Southern Italy population
The objective of this study is to assess the genetic distribution of Charcot‐Marie‐Tooth (CMT) disease in Campania, a region of Southern Italy. We analyzed a cohort of 197 index cases and reported the type and frequency of mutations for the whole CMT population and for each electrophysiological group (CMT1, CMT2 and HNPP) and for familial and isolated CMT cases. Genetic diagnosis was achieved in 148 patients (75.1%) with a higher success rate in HNPP and CMT1 than CMT2. Only four genes (PMP22, GJB1, MPZ and GDAP1) accounted for 92% of all genetically confirmed CMT cases. In CMT1, PMP22 duplication was the most common m...
Source: Journal of the Peripheral Nervous System - June 1, 2014 Category: Neurology Authors: Fiore Manganelli, Stefano Tozza, Chiara Pisciotta, Emilia Bellone, Rosa Iodice, Maria Nolano, Alessandro Geroldi, Simona Capponi, Paola Mandich, Lucio Santoro Tags: RESEARCH REPORT Source Type: research