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Journal of the Peripheral Nervous System: JPNS

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https://www.readbyqxmd.com/read/29341362/a-novel-mutation-of-lrsam1-in-a-chinese-family-with-charcot-marie-tooth-disease
#1
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...
January 17, 2018: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/29341354/a-mutation-in-the-heptad-repeat-2-domain-of-mfn2-in-a-large-cmt2a-family
#2
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
https://www.readbyqxmd.com/read/29341343/small-heat-shock-protein-b3-hspb3-mutation-in-an-axonal-charcot-marie-tooth-disease-family
#3
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
https://www.readbyqxmd.com/read/29341326/elevated-leukocyte-count-in-cerebrospinal-fluid-of-patients-with-chronic-inflammatory-demyelinating-polyneuropathy
#4
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
https://www.readbyqxmd.com/read/29168293/changes-in-intraepidermal-nerve-fiber-and-langerhans-cell-densities-in-the-plantar-skin-of-rats-after-mercuric-chloride-exposure
#5
Binbin Sun, Shuangyi Fan, Kai Yao, Yifan Li, Xusheng Huang
BACKGROUND: 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
https://www.readbyqxmd.com/read/29168276/established-and-novel-measures-of-upper-limb-impairment-in-children-with-charcot-marie-tooth-disease-type-1a-and-riboflavin-transporter-deficiency-type-2
#6
Kayla Cornett, Manoj P Menezes, Paula Bray, Mark Halaki, Joshua Burns
BACKGROUND: 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. METHODS: 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...
November 23, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/29119642/protocol-of-a-dose-response-trial-of-iv-immunoglobulin-in-chronic-inflammatory-demyelinating-polyradiculoneuropathy-drip-study
#7
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
https://www.readbyqxmd.com/read/29119633/antibody-responses-to-galc-in-severe-and-complicated-childhood-guillain-barr%C3%A3-syndrome
#8
LETTER
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
https://www.readbyqxmd.com/read/29095548/epidemiology-of-guillain-barr%C3%A3-syndrome-in-finland-2004-2014
#9
Jussi Sipilä, Merja Soilu-Hänninen, Jori O Ruuskanen, Päivi Rautava, Ville Kytö
At total mean incidence of 0.84-1.1/100,000 the occurrence of Guillain-Barré syndrome (GBS) is reported to be low in Finland compared to other Caucasian populations. However, a recent study from Southwestern Finland reported an incidence of 1.82/100,000 which is comparable to other Caucasian populations. We analyzed discharge data covering the years 2004 through 2014 on all neurological admissions in all Finnish university and central hospitals with a primary diagnosis of GBS. 989 admissions due to GBS (917 individuals) were identified...
November 2, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/29094786/intraneural-perineuriomas-diagnostic-value-of-magnetic-resonance-neurography
#10
L León Cejas, D Binaghi, M Socolovsky, A Dubrovsky, L Pirra, C Marchesoni, A Pardal, S Monges, G Peretti, A Taratuto, F Lubinieki, R Reisin
Intraneural perineurioma is an under-recognized hypertrophic peripheral nerve tumor. It affects young patients involving frequently the sciatic nerve and its branches and presents with a progressive, painless and predominantly motor deficit. Magnetic resonance neurography is a useful tool to localize the lesion, evaluate its extension, and discriminate between different etiologies. We reviewed the clinical records of 11 patients with pathologically confirm intraneural perineurioma. Eight patients were males with mean age 19 years...
November 2, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/29091318/early-electrophysiological-findings-in-acute-inflammatory-demyelinating-polyradiculoneuropathy-variant-of-guillain-barre-syndrome-in-the-pakistani-population%C3%A2-%C3%A2-a-comparison-with-global-data
#11
REVIEW
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...
November 1, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/29092099/maintenance-iv-immunoglobulin-treatment-in-chronic-inflammatory-demyelinating-polyradiculoneuropathy
#12
REVIEW
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
https://www.readbyqxmd.com/read/28833828/markers-for-guillain-barr%C3%A3-syndrome-with-poor-prognosis-a-multi-center-study
#13
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
https://www.readbyqxmd.com/read/29065233/-chronic-inflammatory-demyelinating-polyradiculoneuropathy-clinical-aspects-and-new-animal-models-of-auto-immunity-to-nodal-components
#14
Isabel Illa
Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a chronic and treatable disorder of the peripheral nerves with clinical and immunological heterogeneity.
October 24, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/29065229/prediction-of-disease-progression-in-miller-fisher-and-overlap-syndromes
#15
Christine Verboon, Heleen van Berghem, Pieter A van Doorn, Liselotte Ruts, Bart C Jacobs
BACKGROUND: Patients with Miller Fisher syndrome (MFS) may have a relatively mild clinical course or progress to Guillain-Barré syndrome with limb weakness (MFS-GBS overlap syndrome). Other variants in this spectrum are GBS with ophthalmoparesis and Bickerstaff's Brainstem encephalitis (BBE). AIM: To compare the clinical course of MFS and overlap syndromes and to identify predictors of disease progression. METHODS: In a prospective study of 170 patients with GBS and variant forms, 37 (22%) had a MFS, MFS-GBS overlap syndrome, ophthalmoplegic GBS or BBE...
October 24, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28543957/a-novel-mutation-in-the-fgd4-gene-causing-charcot-marie-tooth-disease
#16
Panagiotis Zis, Mary M Reilly, Dasappaiah G Rao, Pedro Tomaselli, Alex M Rossor, Marios Hadjivassiliou
No abstract text is available yet for this article.
September 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28485482/deletion-of-sarm1-gene-is-neuroprotective-in-two-models-of-peripheral-neuropathy
#17
Elliot Turkiew, Debbie Falconer, Nicole Reed, Ahmet Höke
Distal axon degeneration seen in many peripheral neuropathies is likely to share common molecular mechanisms with Wallerian degeneration. Although several studies in mouse models of peripheral neuropathy showed prevention of axon degeneration in the slow Wallerian degeneration (Wlds) mouse, the role of a recently identified player in Wallerian degeneration, Sarm1, has not been explored extensively. In this study, we show that mice lacking the Sarm1 gene are resistant to distal axonal degeneration in a model of chemotherapy induced peripheral neuropathy caused by paclitaxel and a model of high fat diet induced putative metabolic neuropathy...
September 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28837237/pseudodominant-inheritance-pattern-in-a-family-with-cmt2-caused-by-gdap1-mutations
#18
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...
August 24, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28834584/a-de-novo-dominant-mutation-in-kif1a-associated-with-axonal-neuropathy-spasticity-and-autism-spectrum-disorder
#19
Pedro J Tomaselli, Alexander M Rossor, Alejandro Horga, Matilde Laura, Julian C Blake, Henry Houlden, Mary M Reilly
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 (ASD), spastic paraplegia and axonal neuropathy...
August 23, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28786512/the-role-of-nutrition-as-risk-factor-for-polyneuropathy-a-case-control-study
#20
Nora A Visser, Nicolette C Notermans, Jeanne H M de Vries, Leonard H van den Berg, Alexander F J E Vrancken
OBJECTIVE: The aim of this case-control study is to investigate the role of nutrition as risk factor for polyneuropathy. METHODS: Three hundred eighteen patients with chronic idiopathic axonal polyneuropathy and 636 matched controls completed a validated food frequency questionnaire that covered nutrient intake and alcohol consumption. As risk estimates we calculated adjusted odds ratios for the intake of energy and nutrients. RESULTS: Energy and nutrient intake did not differ between patients and controls, regardless of moderate alcohol consumption...
August 8, 2017: Journal of the Peripheral Nervous System: JPNS
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