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Journal of the Peripheral Nervous System: JPNS

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https://www.readbyqxmd.com/read/28837237/pseudodominant-inheritance-pattern-in-a-family-with-cmt2-caused-by-gdap1-mutations
#1
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
#2
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, spastic paraplegia and axonal neuropathy...
August 23, 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
#3
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 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...
August 18, 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
#4
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
https://www.readbyqxmd.com/read/28660751/clinical-and-genetic-diversities-of-charcot-marie-tooth-disease-with-mfn2-mutations-in-a-large-case-study
#5
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 Takashima
Charcot-Marie-Tooth disease (CMT) constitutes a heterogeneous group affecting motor and sensory neurons in the peripheral nervous system. MFN2 mutations are the most common cause of axonal CMT. We describe the clinical and mutational spectra of CMT patients harboring MFN2 mutations in Japan. We analyzed 1,334 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...
June 29, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28646538/a-novel-attr-l32v-mutation-causes-familial-amyloid-polyneuropathy-in-a-bolivian-family
#6
Pedro L Martínez-Ulloa, Manuela Vallejo, Iñigo Corral, Nuria García-Barragán, Alberto Alcazar, Emma Martínez-Alonso, Javier Martínez-Poles, Hector Pian, Adriano Jiménez-Escrig
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...
June 24, 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
#7
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/28600844/pain-in-chemotherapy-induced-peripheral-neurotoxicity
#8
REVIEW
Paola Marmiroli, Arianna Scuteri, David R Cornblath, Guido Cavaletti
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 trials and in the selection of possible active drugs...
June 10, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28573768/nodes-of-ranvier-in-skin-biopsies-of-patients-with-diabetes-mellitus
#9
Kathrin Doppler, Franziska Frank, Ann-Cathrin Koschker, Karlheinz Reiners, Claudia Sommer
Paranodal demyelination has been discussed as a potential mechanism of nerve fiber damage in diabetic neuropathy (DNP). Studies on human tissue are limited, as nerve biopsies are invasive and only rarely performed in patients with confirmed DNP. Skin biopsy has recently been suggested as a tool to analyze paranodal and nodal changes of myelinated fibers. We analyzed the myelinated fibers of skin biopsies of 35 patients with DNP, 17 patients with diabetes mellitus (DM) without neuropathy, and 30 normal controls...
June 2, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28594116/minimum-clinically-important-difference-analysis-confirms-the-efficacy-of-igpro10-in-cidp-the-prima-trial
#10
LETTER
Ingemar S J Merkies, John-Philip Lawo, Jonathan M Edelman, Jan L De Bleecker, Claudia Sommer, Wim Robberecht, Mika Saarela, Jerzy Kamienowski, Zbigniew Stelmasiak, Orell Mielke, Björn Tackenberg, Jean-Marc Léger
No abstract text is available yet for this article.
June 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28447405/high-mortality-from-guillain-barr%C3%A3-syndrome-in-bangladesh
#11
Tanveen Ishaque, Mohammad B Islam, Gulshan Ara, Hubert P Endtz, Quazi D Mohammad, Bart C Jacobs, Zhahirul Islam
Although Guillain-Barré syndrome (GBS) has higher incidence and poor outcome in Bangladesh, mortality from GBS in Bangladesh has never been explored before. We sought to explore the frequency, timing, and risk factors for deaths from GBS in Bangladesh. We conducted a prospective study on 407 GBS patients who were admitted to Dhaka Medical College Hospital, Dhaka, Bangladesh from 2010 to 2013. We compared deceased and alive patients to identify risk factors. Cox regression model was used to adjust for confounders...
June 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28406555/international-guillain-barr%C3%A3-syndrome-outcome-study-protocol-of-a-prospective-observational-cohort-study-on-clinical-and-biological-predictors-of-disease-course-and-outcome-in-guillain-barr%C3%A3-syndrome
#12
Bart C Jacobs, Bianca van den Berg, Christine Verboon, Govindsinh Chavada, David R Cornblath, Kenneth C Gorson, Thomas Harbo, Hans-Peter Hartung, Richard A C Hughes, Susumu Kusunoki, Pieter A van Doorn, Hugh J Willison
Guillain-Barré syndrome (GBS) is an acute polyradiculoneuropathy with a highly variable clinical presentation, course, and outcome. The factors that determine the clinical variation of GBS are poorly understood which complicates the care and treatment of individual patients. The protocol of the ongoing International GBS Outcome Study (IGOS), a prospective, observational, multicenter cohort study that aims to identify the clinical and biological determinants and predictors of disease onset, subtype, course and outcome of GBS is presented here...
June 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28544463/axonal-charcot-marie-tooth-neuropathy-concurrent-with-distal-and-proximal-weakness-by-translational-elongation-of-the-3-utr-in-nefh
#13
Da Eun Nam, Sung-Chul Jung, Da Hye Yoo, Sun Seong Choi, Sung-Yum Seo, Gwang Hoon Kim, Song-Ja Kim, Soo Hyun Nam, Byung-Ok Choi, Ki Wha Chung
Mutations in the NEFH gene encoding the heavy neurofilament protein are usually associated with neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS). Recently, frameshift variants in NEFH (p.Asp1004Glnfs*58 and p.Pro1008Alafs*56) have been reported to be the underlying cause of axonal Charcot-Marie-Tooth disease type 2CC (CMT2CC). The frameshift mutation resulted in a stop loss and translation of a cryptic amyloidogenic element (CAE) encoded by the 3' UTR. This study also identified a de novo c...
May 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
#14
Panagiotis Zis, Mary M Reilly, Dasappaiah G Rao, Pedro Tomaselli, Alex M Rossor, Marios Hadjivassiliou
Demyelinating forms of Charcot-Marie-Tooth (CMT) result from mutations in a number of genes, the majority of which show an autosomal dominant pattern of inheritance [1]. Recessive patterns of inheritance are less common. We report a case of demyelinating CMT resulting from compound heterozygous mutation in the FGD4 gene.
May 24, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28544110/waardenburg-syndrome-a-rare-cause-of-inherited-neuropathy-due-to-sox10-mutation
#15
Petya Bogdanova-Mihaylova, Michael D Alexander, Raymond Pj Murphy, Sinéad M Murphy
Waardenburg syndrome (WS) is a rare disorder comprising sensorineural deafness and pigmentation abnormalities. Four distinct subtypes are defined based on the presence or absence of additional symptoms. Mutations in six genes have been described in WS. SOX10 mutations are usually associated with a more severe phenotype of WS with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy and Hirschsprung disease. Here we report a 32 year-old man with a novel heterozygous missense variant in SOX10 gene, who presented with congenital deafness, Hirschsprung disease, iris heterochromia, foot deformity and intermediate conduction velocity length-dependent sensorimotor neuropathy...
May 22, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28480635/drug-induced-cutaneous-lupus-erythematosus-after-immunoglobulin-treatment-in-chronic-inflammatory-demyelinating-polyneuropathy-a-case-series
#16
Max E Adrichem, Markus V Starink, Ester Mm van Leeuwen, Christine Kramer, Ivo N van Schaik, Filip Eftimov
We describe six patients with cutaneous lupus erythematosus (cLE) during immunoglobulin G (IgG) treatment. Five patients were diagnosed with chronic inflammatory demyelinating polyneuropathy (CIDP) and one patient with possible CIDP. Five patients received intravenous immunoglobulin (IVIg) and one patient subcutaneous immunoglobulin (SCIg). Skin lesions were systematically assessed by a dermatologist including skin biopsies. Patients showed disseminated erythematous plaques on several parts of the body with predominance of the chest and face...
May 8, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28448692/a-complex-homozygous-mutation-in-abhd12-responsible-for-pharc-syndrome-discovered-with-ngs-and-review-of-the-literature
#17
REVIEW
Justine Lerat, Pascal Cintas, Hélène Beauvais-Dzugan, Corinne Magdelaine, Franck Sturtz, Anne-Sophie Lia
PHARC syndrome (MIM612674) is an autosomal recessive neurodegenerative pathology that leads to demyelinating Polyneuropathy, Hearing loss, cerebellar Ataxia, Retinitis pigmentosa, and early-onset Cataracts (PHARC). These various symptoms can appear at different ages. PHARC syndrome is caused by mutations in ABHD12 (α-β Hydrolase Domain 12), of which several have been described. We report here a new complex homozygous mutation c.379_385delAACTACTinsGATTCCTTATATACCATTGTAGTCTTACTGCTTTTGGTGAACACA (p.Asn127Aspfs*23)...
April 27, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28448691/clinical-characterization-and-genetic-analysis-of-korean-patients-with-x-linked-charcot-marie-tooth-disease-type-1
#18
Young Bin Hong, Jin-Mo Park, Jin Seok Yu, Da Hye Yoo, Da Eun Nam, Hyung Jun Park, Ji-Su Lee, Sun Hee Hwang, Ki Wha Chung, Byung-Ok Choi
Mutations in the gap junction protein beta 1 gene (GJB1) cause X-linked Charcot-Marie-Tooth disease type 1 (CMTX1). CMTX1 is representative of the intermediate type of CMT, having both demyelinating and axonal neuropathic features. We analyzed the clinical and genetic characterization of 128 patients with CMTX1 from 63 unrelated families. Genetic analysis revealed a total of 43 mutations including 6 novel mutations. Ten mutations were found from two or more unrelated families. p.V95M was most frequently observed...
April 27, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28436077/neuroprotective-effect-of-epidermal-growth-factor-in-experimental-acrylamide-neuropathy-an-electrophysiological-approach
#19
H Perez-Saad, N Subiros, J Berlanga, L Aldana, D Garcia Del Barco
The neuroprotective effect of epidermal growth factor (EGF) has been documented in different contexts, but its potential benefits in peripheral neuropathies have been little studied. We investigated the neuroprotective action of EGF in experimental neuropathy induced by acrylamide (ACR). Mice and rats were treated chronically with acrylamide for 6 and 8 weeks, respectively. Concurrently they received EGF in daily doses of 1 and 5 mg/kg in mice and 3 mg/kg in rats, or saline (PBS). ACR severely affected the neurological score, the muscle strength, and the muscle potential M, in mice, as well as F-waves, sensory potentials (SP), and apomorphine-induced penile erection, in rats...
April 24, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28432749/motor-nerve-excitability-after-childhood-guillain-barr%C3%A3-syndrome
#20
Judith Drenthen, Joyce Roodbol, Ellen M Maathuis, Coriene E Catsman-Berrevoets, Joleen H Blok, Marie-Claire Y de Wit, Bart C Jacobs
OBJECTIVE: To determine the residual motor nerve dysfunction after pediatric Guillain-Barré syndrome (GBS). METHODS: Observational cross-sectional cohort study in patients who previously developed GBS during childhood (<18 years). Ulnar motor nerve dysfunction was defined by compound motor action potential (CMAP) scan in patients after a follow-up of at least one year compared with age-matched healthy controls, in relation to clinical course and outcome. RESULTS: Thirty-seven persons previously diagnosed with GBS in childhood were included with a mean age at current examination of 20...
April 21, 2017: Journal of the Peripheral Nervous System: JPNS
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