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A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family
Journal of the Peripheral Nervous System,Volume 23, Issue 1, Page 36-39, March 2018. (Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - January 17, 2018 Category: Neurology Source Type: research

A novel mutation of LRSAM1 in a Chinese family with Charcot ‐Marie‐Tooth disease
Journal of the Peripheral Nervous System,Volume 23, Issue 1, Page 55-59, March 2018. (Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - January 17, 2018 Category: Neurology Source Type: research

Elevated leukocyte count in cerebrospinal fluid of patients with chronic inflammatory demyelinating polyneuropathy
Journal of the Peripheral Nervous System,Volume 23, Issue 1, Page 49-54, March 2018. (Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - January 17, 2018 Category: Neurology Source Type: research

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Journal of the Peripheral Nervous System,Volume 23, Issue 1, Page 60-66, March 2018. (Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - January 17, 2018 Category: Neurology Source Type: research

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Journal of the Peripheral Nervous System,Volume 23, Issue 1, Page 36-39, March 2018. (Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - January 17, 2018 Category: Neurology Source Type: research

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Journal of the Peripheral Nervous System,Volume 23, Issue 1, Page 55-59, March 2018. (Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - January 17, 2018 Category: Neurology Source Type: research

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Journal of the Peripheral Nervous System,Volume 23, Issue 1, Page 49-54, March 2018. (Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - January 17, 2018 Category: Neurology Source Type: research

A novel mutation of LRSAM1 in a Chinese family with Charcot ‐Marie‐Tooth disease
We report a novel LRSAM1 mutation c.2021‐2024del (p.E674VfsX11) in a Chinese autosomal dominant CMT disease type 2 family. The phenotype was characterized by late onset and mild sensory impairment. Electrophysiological findings showed normal or mildly to moderately reduced motor and sensory nerve conduction velocities in lower and upper limb nerves. (Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - January 17, 2018 Category: Neurology Authors: Guohua Zhao, Jie Song, Mi Yang, Xiuhua Song, Xiaomin Liu Tags: CASE REPORT Source Type: research

A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family
We report a large family with an axonal polyneuropathy, with clinical onset in the 20s, followed by slow progression. (Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - January 17, 2018 Category: Neurology Authors: Lois Dankwa, Jessica Richardson, William W. Motley, Stephan Z üchner, Steven S. Scherer Tags: RESEARCH REPORT Source Type: research

Elevated leukocyte count in cerebrospinal fluid of patients with chronic inflammatory demyelinating polyneuropathy
Abstract Cerebrospinal fluid (CSF) examination is often part of the diagnostic work‐up of a patient suspected of having chronic inflammatory demyelinating polyneuropathy (CIDP). According to the EFNS/PNS criteria, an elevated protein level without pleocytosis (leukocytes <10 cells/μl) is supportive of the diagnosis CIDP. It is unclear how many CSF leukocytes are compatible with the diagnosis CIDP and how extensive the diagnostic work‐up should be in patients with a demyelinating neuropathy and pleocytosis. We performed a retrospective study at two tertiary neuromuscular referral clinics and identified 14 out of 273...
Source: Journal of the Peripheral Nervous System - January 17, 2018 Category: Neurology Authors: Ilse M. Lucke, Stojan Peric, Gwen G.A. van Lieverloo, Luuk Wieske, Camiel Verhamme, Ivo N. van Schaik, Ivana Basta, Filip Eftimov Tags: RESEARCH REPORT Source Type: research

Issue Information
(Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - December 12, 2017 Category: Neurology Tags: ISSUE INFORMATION Source Type: research

Severe cognitive impairment in a patient with CMT2A
Abstract Mutations in mitofusin 2 (MFN2) are the most common cause of axonal Charcot Marie Tooth disease (CMT2) (Polke; 2011). Additional features known to occasionally occur with MFN2‐related disorders are optic atrophy, pyramidal signs, scoliosis and deafness (Zuchner, 2006; Feely, 2011; Bombelli, 2014). Cognitive impairment has been reported in a small number of patients with MFN2 mutations (Del Bo, 2008; Genari, 2011; Tufano, 2015). (Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - December 1, 2017 Category: Neurology Authors: Pedro J. Tomaselli, Mahima Kapoor, Andrea Cortese, James M. Polke, Alexander M. Rossor, Mary M. Reilly Tags: CASE REPORT Source Type: research

Clinical and genetic features of Charcot –Marie–Tooth disease 2F and hereditary motor neuropathy 2B in Japan
In this study between April 2007 and October 2014, we conducted gene panel sequencing in a case series of 1,030 patients with inherited peripheral neuropathies (IPNs) using DNA microarray, targeted resequencing, and whole‐exome sequencing. We identified HSPB1 variants in 1.3 % (13 of 1,030) of the patients with IPNs, who exhibited a male predominance. Based on neurological and electrophysiological findings, seven patients were diagnosed with CMT disease type 2F, whereas the remaining six patients were diagnosed with distal hereditary motor neuropathy type 2B. P39L, R127W, S135C, R140G, K141Q, T151I, and P182A mutations i...
Source: Journal of the Peripheral Nervous System - December 1, 2017 Category: Neurology Authors: Hajime Tanabe, Yujiro Higuchi, Jun ‐Hui Yuan, Akihiro Hashiguchi, Akiko Yoshimura, Satoshi Ishihara, Satoshi Nozuma, Yuji Okamoto, Eiji Matsuura, Hiroyuki Ishiura, Jun Mitsui, Ryotaro Takashima, Norito Kokubun, Kengo Maeda, Yuri Asano, Yoko Sunami, Yu K Tags: RESEARCH REPORT Source Type: research

Neuromuscular –disease specific questionnaire to assess quality of life in patients with chronic inflammatory demyelinating polyradiculoneuropathy
Abstract To date, generic questionnaires have been used to investigate quality of life (QoL) in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) patients. Although these measures are very useful, they are not usually precise enough to measure all specific characteristics of the disease. Our aim was to investigate QoL using the neuromuscular disease‐specific questionnaire (INQoL) in a large cohort of patients with CIDP. Our study comprised 106 patients diagnosed with CIDP. INQoL questionnaire, MRC sum score, INCAT disability score, Visual Analogue Pain Scale, Beck Depression Inventory and Krupp's Fatigue S...
Source: Journal of the Peripheral Nervous System - December 1, 2017 Category: Neurology Authors: Aleksandra Kacar, Bogdan Bjelica, Ivo Bozovic, Stojan Peric, Ana Nikolic, Mina Cobeljic, Milutin Petrovic, Aleksandar Stojanov, Gordana Djordjevic, Zoran Vukojevic, Aleksandra Dominovic ‐Kovacevic, Miroslav Stojanovic, Zorica Stevic, Vidosava Rakocevic Tags: RESEARCH REPORT Source Type: research

Small Heat Shock Protein B3 (HSPB3) Mutation in an Axonal Charcot ‐Marie‐Tooth Disease Family
Abstract HSPB3 gene encodes a small heat‐shock protein 27‐like protein which has a high sequence homology with HSPB1. A mutation in the HSPB3 was reported as the putative underlying cause of distal hereditary motor neuropathy 2C (dHMN2C) in 2010. We identified a heterozygous mutation (c.352T>C, p.Tyr118His) in the HSPB3 from a Charcot‐Marie‐Tooth disease type 2 (CMT2) family by the method of targeted next generation sequencing. The mutation was located in the well conserved alpha‐crystalline domain, and several in silico predictions indicated a pathogenic effect of the mutation. Clinical and electrophysiologic...
Source: Journal of the Peripheral Nervous System - December 1, 2017 Category: Neurology Authors: Da Eun Nam, Soo Hyun Nam, Ah Jin Lee, Young Bin Hong, Byung ‐Ok Choi, Ki Wha Chung Tags: CASE REPORT Source Type: research