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
(Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - June 8, 2017 Category: Neurology Tags: ISSUE INFORMATION Source Type: research

2016 Foundation for Peripheral Neuropathy International Research Symposium: Advances in Neuropathy ‐ Emerging Therapies
Journal of the Peripheral Nervous System, EarlyView. (Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - June 7, 2017 Category: Neurology Source Type: research

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Journal of the Peripheral Nervous System, Ahead of Print. (Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - June 7, 2017 Category: Neurology Source Type: research

2016 Foundation for Peripheral Neuropathy International Research Symposium: Advances in Neuropathy ‐ Emerging Therapies
(Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - June 7, 2017 Category: Neurology Tags: PROCEEDINGS Source Type: research

Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations
We report a family in which an autosomal dominantly inherited Charcot‐Marie‐Tooth (CMT) disease type 2 was suspected. The affected family members (proband, sister, father and paternal aunt) showed intrafamilial clinical variability. The proband needed walking aids since adolescence because of generalized muscle weakness. The sister showed the same symptoms although to a lesser extent. The father and paternal aunt had foot deformity and atrophy of lower legs. A homozygous GDAP1 mutation was found in the proband and in the sister. Further testing showed compound heterozygous GDAP1 mutations in the father and paternal aun...
Source: Journal of the Peripheral Nervous System - June 1, 2017 Category: Neurology Authors: Barbara W. van Paassen, Marieke Bronk, Camiel Verhamme, Fred van Ruissen, Frank Baas, Karin Y. van Spaendonck ‐Zwarts, Marianne de Visser Tags: CASE REPORT Source Type: research

A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder
Abstract Mutations in the kinesin family member 1A (KIF1A) gene have been associated with a wide range of phenotypes including recessive mutations causing hereditary sensory neuropathy and hereditary spastic paraplegia and de novo dominant mutations causing a more complex neurological disorder affecting both the central and peripheral nervous system. We identified by exome sequencing a de novo dominant missense variant, (c.38G>A, p.R13H), within an ATP binding site of the kinesin motor domain in a patient manifesting a complex phenotype characterized by autism spectrum disorder, spastic paraplegia and axonal neuropathy....
Source: Journal of the Peripheral Nervous System - June 1, 2017 Category: Neurology Authors: Pedro J Tomaselli, Alexander M Rossor, Alejandro Horga, Matilde Laura, Julian C Blake, Henry Houlden, Mary M Reilly Tags: CASE REPORT Source Type: research

Markers for Guillain ‐Barré syndrome with poor prognosis: a multi‐center study
Abstract Guillain‐Barré syndrome (GBS) is an acute monophasic neuropathy. Prognostic tools include the modified Erasmus GBS outcome score (mEGOS), Erasmus GBS respiratory insufficiency score (EGRIS), and increase in IgG levels (ΔIgG) 2 weeks after intravenous immunoglobulin (IVIg) treatment. Given that proportions of GBS subtypes differ between Western countries and Japan, the usefulness of these tools in Japan or other countries remains unknown. We enrolled 177 Japanese patients with GBS from 15 university hospitals and retrospectively obtained mEGOS and EGRIS for all and ΔIgG status for 79 of them. High mEGOS scores...
Source: Journal of the Peripheral Nervous System - June 1, 2017 Category: Neurology Authors: Yuko Yamagishi, Hidekazu Suzuki, Masahiro Sonoo, Satoshi Kuwabara, Takanori Yokota, Kyoichi Nomura, Atsuro Chiba, Ryuji Kaji, Takashi Kanda, Kenichi Kaida, Shu ‐ichi Ikeda, Tatsuro Mutoh, Ryo Yamasaki, Hiroshi Takashima, Makoto Matsui, Kazutoshi Nishiya Tags: RESEARCH REPORTS Source Type: research

The role of nutrition as risk factor for polyneuropathy: a case –control study
ConclusionNutrition is not a risk factor for chronic idiopathic axonal polyneuropathy. (Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - June 1, 2017 Category: Neurology Authors: Nora A. Visser, Nicolette C. Notermans, Jeanne H.M. de Vries, Leonard H. van den Berg, Alexander F.J.E. Vrancken Tags: RESEARCH REPORTS Source Type: research

Clinical and genetic diversities of Charcot –Marie–Tooth disease with MFN2 mutations in a large case study
We describe the clinical and mutational spectra of CMT patients harboring MFN2 mutations in Japan. We analyzed 1334 unrelated patients with clinically suspected CMT referred by neurological and neuropediatric departments throughout Japan. We conducted mutation screening using a DNA microarray, targeted resequencing, and whole‐exome sequencing. We identified pathogenic or likely pathogenic MFN2 variants from 79 CMT patients, comprising 44 heterozygous and 1 compound heterozygous variants. A total of 15 novel variants were detected. An autosomal dominant family history was determined in 43 cases, and the remaining 36 cases...
Source: Journal of the Peripheral Nervous System - June 1, 2017 Category: Neurology Authors: Masahiro Ando, Akihiro Hashiguchi, Yuji Okamoto, Akiko Yoshimura, Yu Hiramatsu, Junhui Yuan, Yujiro Higuchi, Jun Mitsui, Hiroyuki Ishiura, Ayako Umemura, Koichi Maruyama, Takeshi Matsushige, Shinichi Morishita, Masanori Nakagawa, Shoji Tsuji, Hiroshi Taka Tags: RESEARCH REPORTS Source Type: research

A novel ATTR L32V mutation causes familial amyloid polyneuropathy in a Bolivian family
We report a new transthyretin (ATTR) gene c.272C>G mutation and variant protein, p.Leu32Val, in a kindred of Bolivian origin with a rapid progressive peripheral neuropathy and cardiomyopathy. Three individuals from a kindred with peripheral nerve and cardiac amyloidosis were examined. Analysis of the TTR gene was performed by Sanger direct sequencing. Neuropathologic examination was obtained on the index patient with mass spectrometry study of the ATTR deposition. Direct DNA sequence analysis of exons 2, 3 and 4 of the TTR gene demonstrated a c.272 C>G mutation in exon 2 (p.L32V). Sural nerve biopsy revealed massive ...
Source: Journal of the Peripheral Nervous System - June 1, 2017 Category: Neurology Authors: P.L. Mart ínez‐Ulloa, M. Vallejo, I. Corral, N. García‐Barragán, A. Alcazar, Emma Martínez‐Alonso, J. Martínez‐Poles, H. Pian, A. Jiménez‐ Escrig Tags: CASE REPORT Source Type: research

2017 Peripheral Nerve Society Meeting July 8 – 12, 2017 Sitges, Barcelona, Spain
(Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - June 1, 2017 Category: Neurology Tags: ABSTRACT Source Type: research

Pain in chemotherapy ‐induced peripheral neurotoxicity
Abstract Chemotherapy‐Induced Peripheral Neurotoxicity (CIPN) is a potentially dose‐limiting side effect of the treatment of several cancers. CIPN is predominantly or exclusively sensory, and it is frequently associated with unpleasant symptoms, overall referred to as “pain”. However, given the markedly different clinical presentation and course of CIPN depending on the antineoplastic drug used, the broad term “pain” in the specific context of CIPN needs to be reconsidered and refined. In fact, a precise identification of the features of CIPN has relevant implication in the design of rational‐based clinical t...
Source: Journal of the Peripheral Nervous System - June 1, 2017 Category: Neurology Authors: Paola Marmiroli, Arianna Scuteri, David R Cornblath, Guido Cavaletti Tags: REVIEW Source Type: research

A novel mutation in the FGD4 gene causing Charcot ‐Marie‐Tooth disease
We report a case of demyelinating CMT resulting from compound heterozygous mutation in the FGD4 gene. (Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - May 24, 2017 Category: Neurology Authors: Panagiotis Zis, Mary M Reilly, Dasappaiah G Rao, Pedro Tomaselli, Alex M Rossor, Marios Hadjivassiliou Tags: CASE REPORT Source Type: research

A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature
We report here a new complex homozygous mutation c.379_385delAACTACTinsGATTCCTTATATACCATTGTAGTCTTACTGCTTTTGGTGAACACA (p.Asn127Aspfs*23). This mutation was detected in a 36‐year‐old man, who presented neuropathic symptoms from the age of 15, using a NGS panel. This result suggests that the involvement of ABHD12 in polyneuropathies is possibly underestimated. We then performed a comparative study of other patients presenting ABHD12 mutations and searched for genotype‐phenotype correlations and functional explanations in this heterogeneous population. (Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - April 27, 2017 Category: Neurology Authors: Justine Lerat, Pascal Cintas, H élène Beauvais‐Dzugan, Corinne Magdelaine, Franck Sturtz, Anne‐Sophie Lia Tags: REVIEW Source Type: research

High body mass and kidney dysfunction relate to worse nerve function, even in adults without neuropathy
Abstract Polyneuropathy is a prevalent and disabling disorder. Despite extensive evaluation, the cause often remains unknown. Factors that predispose for the development of polyneuropathy need to be identified. We investigated the effect of anthropometric and metabolic factors on peripheral nerve function in 908 participants of the population‐based Rotterdam Study without any symptoms or signs of polyneuropathy. Participants underwent nerve conduction studies of the sural and peroneal nerve. Data on age, height, weight, waist circumference, diabetes, lipid levels, hypertension and kidney function were collected. Regressi...
Source: Journal of the Peripheral Nervous System - April 20, 2017 Category: Neurology Authors: Rens Hanewinckel, M. Arfan Ikram, Oscar H. Franco, Albert Hofman, Judith Drenthen, Pieter A. van Doorn Tags: RESEARCH REPORTS Source Type: research