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Journal of the Peripheral Nervous System: JPNS

Raquel Guimarães-Costa, Yoland Schoindre, Arnaud Metlaine, Jean-Pascal Lefaucheur, Jean-Philippe Camdessanché, Thierry Maisonobe, Jean-Marc Léger
A 59-year old woman presented with progressive paresthesias of all of her limbs for 4 years, associated with neuropathic pain, tingling in the tongue and allodynia, consistent with small-fiber neuropathy (SFN). Several systemic symptoms and signs were found on clinical examination and laboratory work-up. Neurological investigations including neurophysiologic test and skin biopsy supported the diagnosis of SFN. Chronic exposure to N-hexane was then disclosed and suspected to be the cause of the disease. Following the discontinuation of chronic N-hexane exposure, the patient had a progressive improvement of all signs and symptoms, reinforcing the correlation between exposure to N-hexane and development of SFN...
March 15, 2018: Journal of the Peripheral Nervous System: JPNS
Melissa R Mandarakas, Kristy J Rose, Oranee Sanmaneechai, Manoj P Menezes, Kathryn M Refshauge, Joshua Burns
A functional outcome measure for infants (aged 0-3 years) with Charcot-Marie-Tooth disease (CMT) is needed for upcoming disease-modifying trials. A systematic review of outcome measures for infants with neuromuscular disorders was completed to determine if validated measures were available for the CMT infant population. We assessed 20,375 papers and identified seven functional outcome measures for infants with neuromuscular disorders. Six were developed and validated for Spinal Muscular Atrophy (SMA). There were no CMT-specific outcome measures identified, however one (Motor Function Measure) assessed a range of neuromuscular disorders including 13 infants and children with CMT...
March 9, 2018: Journal of the Peripheral Nervous System: JPNS
Carolina Lavigne-Moreira, Vanessa Daccach Marques, Marcus V Magno Gonçalves, Mauricio Fernandes de Oliveira, Pedro J Tomaselli, José Nunez, Osvaldo J Moreira do Nascimento, Amilton Antunes Barreira, Wilson Marques
OBJECTIVE: To present the genetic heterogeneity of a sample of the Brazilian population with TTR mutations. METHODS: This cohort study was descriptive and retrospective, and enrolled patients with peripheral neuropathy of unknown cause that were found to have a mutation in the TTR gene during the process of etiological investigation, between July 1997 to January 2016. RESULTS: Over the study period, 129 point mutations were identified in 448 tested patients, of whom 128 were of Brazilian origin...
March 9, 2018: Journal of the Peripheral Nervous System: JPNS
Pedro J Tomaselli, Mahima Kapoor, Andrea Cortese, James M Polke, Alexander M Rossor, Mary M Reilly
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).
March 9, 2018: Journal of the Peripheral Nervous System: JPNS
Diego Franciotta, Matteo Gastaldi, Elisabetta Zardini, Eduardo Nobile-Orazio
No abstract text is available yet for this article.
February 18, 2018: Journal of the Peripheral Nervous System: JPNS
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 Kono, Yasunori Ishigaki, Shosaburo Yanamoto, Jiro Fukae, Hiroshi Kida, Mitsuya Morita, Shoji Tsuji, Hiroshi Takashima
Mutations in small heat shock protein beta-1 (HspB1) have been linked to Charcot-Marie-Tooth (CMT) disease type 2F and distal hereditary motor neuropathy type 2B. Only four cases with HSPB1 mutations have been reported to date 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...
January 30, 2018: Journal of the Peripheral Nervous System: JPNS
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-Stojanovic, Dragana Lavrnic, Ivana Basta
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 Severity Scale were used in our study...
January 23, 2018: Journal of the Peripheral Nervous System: JPNS
Guohua Zhao, Jie Song, Mi Yang, Xiuhua Song, Xiaomin Liu
Charcot-Marie-Tooth (CMT) disease is the most common inherited peripheral neuropathy characterized by progressive distal muscle weakness and atrophy with decreased or absent tendon reflexes. Mutations in LRSAM1 have been identified to cause CMT disease type 2P. 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...
March 2018: Journal of the Peripheral Nervous System: JPNS
Lois Dankwa, Jessica Richardson, William W Motley, Stephan Züchner, Steven S Scherer
Dominant mutations in MFN2 cause a range of phenotypes, including severe, early-onset axonal neuropathy, "classical CMT2", and late-onset axonal neuropathies. We report a large family with an axonal polyneuropathy, with clinical onset in the 20s, followed by slow progression.
January 17, 2018: Journal of the Peripheral Nervous System: JPNS
Da Eun Nam, Soo Hyun Nam, Ah Jin Lee, Young Bin Hong, Byung-Ok Choi, Ki Wha Chung
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...
January 17, 2018: Journal of the Peripheral Nervous System: JPNS
Ilse M Lucke, Stojan Peric, Gwen G A van Lieverloo, Luuk Wieske, Camiel Verhamme, Ivo N van Schaik, Ivana Basta, Filip Eftimov
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 (6%) patients with CIDP with elevated CSF leukocytes (≥10 cells/μl)...
January 17, 2018: Journal of the Peripheral Nervous System: JPNS
(no author information available yet)
No abstract text is available yet for this article.
March 2018: Journal of the Peripheral Nervous System: JPNS
Kayla M D Cornett, Manoj P Menezes, Paula Bray, Mark Halaki, Joshua Burns
Hand function is a problem in patients with Charcot-Marie-Tooth disease type 1A (CMT1A) and Riboflavin Transporter Deficiency type 2 (RTD2). However, a detailed understanding of upper limb involvement in these conditions is lacking. The aim of this pilot study was to compare hand and upper limb function between children with CMT1A, RTD2 and healthy controls using established and novel outcome measures. Three age-and sex-matched groups of four children (5-15 years, 1 male/group) with CMT1A, RTD2, and healthy controls were assessed for function, strength, and sensation...
March 2018: Journal of the Peripheral Nervous System: JPNS
Krista Kuitwaard, Willem-Jan R Fokkink, Esther Brusse, Alexander F J E Vrancken, Filip Eftimov, Nicolette C Notermans, Anneke J van der Kooi, Ingemar S J Merkies, Bart C Jacobs, Pieter A van Doorn
Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) patients treated with intravenous immunoglobulin (IVIg) usually start with a standard dosage of 2 g/kg bodyweight. Only a minority of patients has a sustained improvement, and most require ongoing maintenance treatment. Preferred IVIg regimens, however, vary considerably between doctors and at present it is unknown which is optimal. As there are also large differences in IVIg dosage and interval requirements between patients, optimal IVIg maintenance treatment of CIDP is even more complex...
December 2017: Journal of the Peripheral Nervous System: JPNS
Ahmad Wali, Dureshahwar Kanwar, Safoora A Khan, Sara Khan
Acute inflammatory demyelinating polyradiculoneuropathy (AIDP) and acute motor axonal neuropathy are the most common variants of Guillian-Barre syndrome documented in the Asian population. However, the variability of early neurophysiologic findings in the Asian population compared to western data has not been documented. Eighty-seven cases of AIDP were retrospectively reviewed for their demographic, clinical, electrophysiological, and laboratory data. Mean age of subjects was 31 ± 8 years with males more commonly affected...
December 2017: Journal of the Peripheral Nervous System: JPNS
Barbara W van Paassen, Marieke Bronk, Camiel Verhamme, Fred van Ruissen, Frank Baas, Karin Y van Spaendonck-Zwarts, Marianne de Visser
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...
December 2017: Journal of the Peripheral Nervous System: JPNS
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 Nishiyama, Gen Sobue, Susumu Kusunoki
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 the increase in serum 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...
December 2017: Journal of the Peripheral Nervous System: JPNS
Binbin Sun, Shuangyi Fan, Kai Yao, Yifan Li, Xusheng Huang
Mercury and its compounds possess strong neurotoxicity and patients with mercury poisoning often report pain and numbness in the distal extremities that conform to the "stocking-glove" pattern. However, no study has investigated whether damage to small nerve fibers is associated with mercury poisoning. The aims of the present study were to evaluate the effects of different doses of mercury chloride (HgCl2 ) on intraepidermal nerve fibers density (IENFD) and Langerhans cells (LCs) in the plantar skin of rats and to assess the possible relationship between changes in IENFD and sensory testing...
November 23, 2017: Journal of the Peripheral Nervous System: JPNS
Krista Kuitwaard, Willem-Jan R Fokkink, Esther Brusse, Alexander F J E Vrancken, Filip Eftimov, Nicolette C Notermans, Anneke J van der Kooi, Ingemar S J Merkies, Bart C Jacobs, Pieter A van Doorn
High peak levels of serum IgG may not be needed for maintenance treatment of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) with intravenous immunoglobulin (IVIg). More frequent dosing of IVIg leads to more stable IgG levels and higher trough levels which may be related with improved clinical efficacy. More frequent lower dosing leads to lower peak levels and may induce less systemic side-effects. The DRIP study is a double-blind randomized controlled cross-over intervention study. CIDP patients ≥18 years old, proven IVIg dependent and receiving an individually established but stable maintenance dose and interval of IVIg (Kiovig) can be included...
November 9, 2017: Journal of the Peripheral Nervous System: JPNS
Patrick M Meyer Sauteur, Ruth Huizinga, Anne P Tio-Gillen, Marie-Claire Y de Wit, Wendy W J Unger, Christoph Berger, Annemarie M C van Rossum, Bart C Jacobs
We recently presented a case series of seven children who developed severe and complicated Guillain-Barré syndrome (GBS) after infection with M. pneumoniae (Mp) (Meyer Sauteur et al., 2015). The disease was rapidly progressive and severe: one died, four had clinically defined central nervous system (CNS) involvement, and five required mechanical ventilation.
November 9, 2017: Journal of the Peripheral Nervous System: JPNS
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