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Sensory Neuronopathies: A Case Series And Literature Review J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2021-01-24 Agustín Sancho Saldaña; Mohamed Madhi‐Rogers; Robert Hadden
Sensory neuronopathies are heterogeneous disorders of dorsal root ganglia. We describe clinical and laboratory features in a single‐centre series, including response to treatment and outcome.
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The Hippo pathway: Horizons for innovative treatments of peripheral nerve diseases J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2021-01-15 M. Laura Feltri; Michael R. Weaver; Sophie Belin; Yannick Poitelon
Initially identified in Drosophila, the Hippo signaling pathway regulates how cells respond to their environment by controlling proliferation, migration and differentiation. Many recent studies have focused on characterizing Hippo pathway function and regulation in mammalian cells. Here, we present a brief overview of the major components of the Hippo pathway, as well as their regulation and function
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Cutaneous and muscular afferents from the foot and sensory fusion processing: Physiology and pathology in neuropathies J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2021-01-10 Guido Felicetti; Philippe Thoumie; Manh‐Cuong Do; Marco Schieppati
The foot‐sole cutaneous receptors (section 2), their function in stance control (sway minimisation, exploratory role) (2.1), and the modulation of their effects by gait pattern and intended behaviour (2.2) are reviewed. Experimental manipulations (anaesthesia, temperature) (2.3 and 2.4) have shown that information from foot sole has widespread influence on balance. Foot‐sole stimulation (2.5) appears
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Electrophysiological investigation of motor axonal excitability in a mouse model of nerve constriction injury J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2021-01-11 Preet G. S. Makker; Brooke A. Keating; Justin G. Lees; David Burke; James Howells; Gila Moalem‐Taylor
Peripheral nerve injuries caused by focal constriction are characterised by local nerve ischaemia, axonal degeneration, demyelination, and neuroinflammation. The aim of this study was to understand temporal changes in the excitability properties of injured motor axons in a mouse model of nerve constriction injury (NCI). The excitability of motor axons following unilateral sciatic NCI was studied in
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Platinum accumulation in oxaliplatin‐induced peripheral neuropathy J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2021-01-18 Guoli Wei; Zhancheng Gu; Jialin Gu; Jialin Yu; Xiaofei Huang; Fengxia Qin; Lingchang Li; Rong Ding; Jiege Huo
Oxaliplatin‐induced peripheral neuropathy (OIPN) is a common and dose‐limiting toxic effect that markedly limits the use of oxaliplatin and affects the quality of life. Although it is common, the underlying mechanisms of OIPN remain ambiguous. Recent studies have shown that the platinum accumulation in peripheral nervous system, especially in dorsal root ganglion, is a significant mechanism of OIPN
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Comparing neuropathy in multiple myeloma and AL amyloidosis J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-12-28 Martin Ballegaard; Lærke Marie Nelson; Peter Gimsing
Peripheral neuropathy (PN) is frequent in patients with monoclonal gammopathy due to plasma cell dyscrasia, but little is known about the comparative impact of nerve dysfunction in different disorders. We compared clinical and laboratory results between two diagnostic groups. We recruited 76 untreated multiple myeloma (MM) and 27 AL amyloidosis (ALA) patients for evaluation of symptoms, clinical findings
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Oxaliplatin rechallenge in metastatic colorectal cancer patients with clinically significant oxaliplatin‐induced peripheral neurotoxicity J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-12-20 Andreas A. Argyriou; Foteini Kalofonou; Pantelis Litsardopoulos; Garifallia G. Anastopoulou; Haralabos P. Kalofonos
We investigated whether rechallenge with oxaliplatin (OXA) can worsen the pre‐existing oxaliplatin‐induced peripheral neurotoxicity (OXAIPN) in metastatic colorectal cancer (mCRC) patients. Patients previously treated with OXA, having clinically significant grade 1 or 2 OXAIPN were assessed, after receiving rechallenge with OXA, using the clinical version of the Total Neuropathy Score (TNSc). Peripheral
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A new de novo SYT2 mutation presenting as distal weakness. Neuropathy or neuromuscular junction dysfunction? J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-12-15 Laura Fionda; Janina Turon‐Sans; Pablo Fuentes Prior; Sara Bernal Noguera; Elena Cortés‐Vicente; Maria Angeles López‐Pérez; Eduard Gallardo; Ricard Rojas‐García
We report the case of a patient with a clinical phenotype characterized by distal lower limb weakness and pes cavus. The electrophysiological study showed slightly reduced or normal amplitude of motor potentials, a decremental response to repetitive nerve stimulation and post‐exercise facilitation. Muscle biopsy showed only mild neurogenic features. Genetic analysis included a clinical exome sequencing
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Small and large fiber sensory polyneuropathy in type 2 diabetes: Influence of diagnostic criteria on neuropathy subtypes J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-12-09 Mustapha Itani; Sandra Sif Gylfadottir; Thomas Krøigård; Alexander Gramm Kristensen; Diana Hedevang Christensen; Pall Karlsson; Sören Möller; Henning Andersen; Hatice Tankisi; Jens Steen Nielsen; Troels Staehelin Jensen; Reimar Wernich Thomsen; Nanna Brix Finnerup; Søren Hein Sindrup
Diabetic polyneuropathy (DPN) can be classified based on fiber diameter into three subtypes: small fiber neuropathy (SFN), large fiber neuropathy (LFN), and mixed fiber neuropathy (MFN). We examined the effect of different diagnostic models on the frequency of polyneuropathy subtypes in type 2 diabetes patients with DPN. This study was based on patients from the Danish Center for Strategic Research
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Guillain‐Barré syndrome associated with SARS‐CoV‐2 infection: A systematic review and individual participant data meta‐analysis J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-10-28 Imran Hasan; KM Saif‐Ur‐Rahman; Shoma Hayat; Nowshin Papri; Israt Jahan; Rufydha Azam; Gulshan Ara; Zhahirul Islam
Several published reports have described a possible association between Guillain‐Barré syndrome (GBS) and severe acute respiratory syndrome coronavirus‐2 (SARS‐CoV‐2) infection. This systematic review aimed to summarize and meta‐analyze the salient features and prognosis of SARS‐CoV‐2‐associated GBS. We searched the PubMed (Medline), Web of Science and Cochrane databases for articles published between
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Relation of exercise and pain in patients with idiopathic distal axonal polyneuropathies J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-10-06 Sarah Stewart; Simone Thomas; Perry TC Van Doormaal; Ahmet Höke
Although exercise is associated with better outcomes in patients with some peripheral neuropathies, data in idiopathic peripheral neuropathies is lacking. This study was completed to do a comprehensive data analysis about the benefits of regular exercise in a well‐characterized cohort of patients with idiopathic distal, symmetrical, axonal polyneuropathy enrolled in the Peripheral Neuropathy Research
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Vibratory testing with the 64 Hz Rydel‐Seiffer tuning fork and its relation to the sural nerve action potential J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-10-26 Sophia Xirou; Panagiotis Kokotis; Thomas Zambelis; Evangelos Anagnostou
Despite its widespread use, little is known regarding the ability of the semi‐quantitative Rydel‐Seiffer tuning fork to designate peripheral nerve function. We sought to determine in a large sample of normal and abnormal nerves the relationship between vibration sense and compound sensory nerve action potential (SNAP) parameters recorded in a corresponding innervation area. Vibratory thresholds were
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Comorbidities, anthropometric, demographic, and lifestyle risk factors for ulnar neuropathy at the elbow: A case control study J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-11-02 Mauro Mondelli; Stefano Mattioli; Claudia Vinciguerra; Palma Ciaramitaro; Alessandro Aretini; Giuseppe Greco; Francesco Sicurelli; Stefano Giorgi; Stefania Curti
We performed a prospective multicenter case‐control study to explore the association between ulnar neuropathy at elbow (UNE) and body and elbow anthropometric measures, demographic and lifestyle factors, and comorbidities. Cases and controls were consecutively enrolled among subjects admitted to four electromyography labs. UNE diagnosis was made on clinical and neurographic findings. The control group
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Validation of a new hand function outcome measure in individuals with Charcot‐Marie‐Tooth disease J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-11-02 Valeria Prada; Giulia Robbiano; Giulia Mennella; Mehrnaz Hamedani; Emilia Bellone; Marina Grandis; Angelo Schenone; Riccardo Zuccarino
The symptomatology of Charcot‐Marie‐Tooth (CMT) disease mainly involves the feet and the hands. To date, there is no consensus on how to evaluate hand function in CMT. The aim of this study is to correlate the data of the engineered glove Hand Test System (HTS) with specific tests and the CMT examination score (CMTES). We analyzed 45 patients with the diagnosis of CMT using HTS, which measures the
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Convergent pathological and ultrasound features in hereditary syndromic and non‐syndromic minifascicular neuropathy related to DHH J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-10-26 Federica Boso; Giampietro Zanette; Fulvia Baldinotti; Silvano Bertelloni; Federica Taioli; Salvatore Monaco; Gian Maria Fabrizi; Tiziana Cavallaro
Minifascicular neuropathy (MN) is a rare, autosomal recessive disease with prominent structural changes of peripheral nerves. So far, it has been observed in females with a 46,XY karyotype and mutations of the Desert Hedgehog (DHH) gene, thus linking MN to gonadal dysgenesis (GD) and disorders of sex development (DSD). However, a 46,XX proband with normal female sex and gender development underwent
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Protection from neuropathy in extreme duration type 1 diabetes J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-11-24 Shazli Azmi; Maryam Ferdousi; Alise Kalteniece; Ioannis N. Petropoulos; Georgios Ponirakis; Uazman Alam; Omar Asghar; Andrew Marshall; Adhithya Sankar; Andrew J. M. Boulton; Handrean Soran; Nathan Efron; Rayaz A. Malik
A proportion of individuals with type 1 diabetes mellitus for more than 50 years (medallists) may be protected from developing nephropathy, retinopathy and neuropathy. Detailed neuropathy phenotyping was undertaken in a cohort of 33 medallists aged 63.7 ± 1.4 years with diabetes for 58.5 ± 0.8 years and HbA1c of 65.9 ± 2.1 mmol/mmol. Medallists had a significantly higher HbA1c (P < .001), lower estimated
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Utility of stimulus induced after discharges in the evaluation of peripheral nerve hyperexcitability: Old wine in a new bottle? J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-11-12 Aditya Vijayakrishnan Nair; Arun Mani; Asish Vijayaraghavan; Pullumpallil Alexander; Atif Shaikh; Rohit Ninan; A.T. Prabhakar; Ajith Sivadasan; Sanjit Aaron; John Jude; Vivek Mathew; Mathew Alexander
Limited literature is available on stimulus induced after discharges (SIAD) in patients with peripheral nerve hyperexcitability (PNH). The aim of the study was to examine the diagnostic utility of SIAD in the diagnosis and monitoring of primary PNH disorders. In this retrospective study, we studied 26 patients who were admitted with a diagnosis of primary PNH to the department of Neurology from January
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Enhancing peripheral nerve regeneration with neurotrophic factors and bioengineered scaffolds: A basic science and clinical perspective. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-09-16 Brian V Lien,Nolan J Brown,Seth C Ransom,Brandon M Lehrich,Shane Shahrestani,Ali R Tafreshi,Ryan C Ransom,Ronald Sahyouni
Despite the peripheral nervous systems (PNS) capacity to regenerate, functional restoration is highly variable following peripheral nerve injury (PNI), oftentimes leading to persistent functional deficits. In the preclinical arena, advances in the therapeutic use of exogenous neurotrophic factors and synthetic neural scaffold technology hold promise in augmenting endogenous PNS regeneration following
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Oxaliplatin- and docetaxel-induced polyneuropathy: clinical and neurophysiological characteristics. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-09-09 Kristine Bennedsgaard,Lise Ventzel,Niels T Andersen,Andreas C Themistocleous,David L Bennett,Troels S Jensen,Hatice Tankisi,Nanna B Finnerup
The aim of this study was to evaluate the presence and characterization of chemotherapy‐induced neuropathy (CIPN) and neuropathic pain 5 years after adjuvant chemotherapy with docetaxel or oxaliplatin. Patients from an ongoing prospective study, who had received adjuvant chemotherapy with docetaxel or oxaliplatin in 2011 to 2012 were invited to participate. The patients underwent a thorough examination
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The Brighton Collaboration case definition: Comparison in a retrospective and prospective cohort of children with Guillain-Barré syndrome. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-08-31 Rudolf Korinthenberg,James J Sejvar
Guillain‐Barré syndrome (GBS) is an immune‐mediated polyradiculoneuropathy frequently preceded by an infection with Campylobacter jejuni or nonspecific infections, and rarely by a vaccination. Due to a lack of a pathognomonic finding or biomarker, its diagnosis is based on a typical constellation of clinical and paraclinical symptoms and findings. The Brighton Collaboration GBS Working Group published
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Incidence and mortality rates of Guillain-Barré syndrome in Serbia. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-08-31 Aleksandar Stojanov,Ivana Berisavac,Ivo Bozovic,Mirjana Arsenijevic,Sonja Lukic-Rajic,Milutin Petrovic,Olivera Stojiljkovic-Tamas,Zita Jovin,Gordana Djordjevic,Dejana Jovanovic,Miroslav Stojanovic,Vesna Martic,Ivana Basta,Stojan Peric
Guillain‐Barré syndrome (GBS) is an acute auto‐immune polyradiculoneuropathy. A huge variety of GBS incidence and mortality rates has been noted across the world. The objective of the present multi‐centric study was to assess the incidence and mortality rates of GBS during a 10‐year period in Serbia. We collected data of adult GBS patients who were hospitalized from 2009 to 2018 in all five tertiary
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Reliability of the Charcot-Marie-Tooth functional outcome measure. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-08-26 Paula Bray,Kayla M D Cornett,Timothy Estilow,Davide Pareyson,Riccardo Zuccarino,Mariola Skorupinska,Menelaos Pipis,Janet E Sowden,Steven Scherer,Mary M Reilly,Michael E Shy,David N Herrmann,Joshua Burns,Katy J Eichinger
The CMT‐FOM is a 13‐item clinical outcome assessment (COA) that measures physical ability in adults with Charcot‐Marie‐Tooth disease (CMT). Test‐retest reliability, internal consistency and convergent validity have been established for the CMT‐FOM. This current study sought to establish inter‐rater reliability. Following an in‐person training of six international clinical evaluators we recruited 10
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Expanding the phenotypic spectrum of TRIM2-associated Charcot-Marie-Tooth disease. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-08-19 Stefania Magri,Federica Rachele Danti,Francesca Balistreri,Silvia Baratta,Claudia Ciano,Emanuela Pagliano,Franco Taroni,Isabella Moroni
Charcot‐Marie‐Tooth disease (CMT) is a clinically and genetically heterogeneous group of distal symmetric polyneuropathies due to progressive and length‐dependent degeneration of peripheral nerves. Cranial nerve involvement has been described in association with various CMT‐genes mutations, such as GDAP1, TRPV4, MFN2, MTMR2 and EGR2. Compound heterozygous mutations in the TRIM2 gene, encoding an E3
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Ataxia pancytopenia syndrome due to SAMD9L mutation presenting as demyelinating neuropathy. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-08-18 David Vaughan,Petya Bogdanova-Mihaylova,Daniel J Costello,Brian J Sweeney,Brian McNamara,Richard A Walsh,Sinéad M Murphy
Ataxia pancytopenia (ATXPC) syndrome due to gain‐of‐function pathogenic variants in the SAMD9L gene has been described in 38 patients to date. It is characterized by variable neurological and hematological phenotypes including ataxia, pyramidal signs, cytopenias, and hematological malignancies. Peripheral neuropathy with slowing of conduction velocities has been reported in only two affected individuals
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An international multicenter efficacy and safety study of IqYmune in initial and maintenance treatment of patients with chronic inflammatory demyelinating polyradiculoneuropathy: PRISM study. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-08-18 Eduardo Nobile-Orazio,Sonia Pujol,Fabrice Kasiborski,Rabye Ouaja,Gilles Della Corte,Robert Bonek,Dario Cocito,Angelo Schenone
This prospective, multicenter, single‐arm, open‐label phase 3 study aimed to evaluate the efficacy and safety of IqYmune in patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Patients received one induction dose of 2 g/kg and then seven maintenance doses of 1 g/kg at 3‐week intervals. The primary endpoint was the responder rate at the end of study (EOS), defined as an improvement
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Co-expression gene modules involved in cisplatin-induced peripheral neuropathy according to sensitivity, status, and severity. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-08-11 Rui-Hao Zhou,Chan Chen,Su-Han Jin,Jun Li,Zi-Hao Xu,Ling Ye,Jian-Guo Zhou
Chemotherapy‐induced peripheral neuropathy (CIPN) is among the most disabling and frustrating problems for cancer survivors. The neurotoxicity caused by cisplatin varies greatly among patients, and few predictors of appearance, duration of symptoms, susceptibility, or severity are available. A deeper understanding of the mechanisms underlying individual differences in status, severity, or sensitivity
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From pathogenesis to personalized treatments of neuropathies in hematological malignancies. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-08-07 Chiara Briani,Andrea Visentin,Federica Cerri,Angelo Quattrini
The peripheral nervous system may be involved at any stage in the course of several hematological diseases, the most common being monoclonal gammopathies (of undetermined significance or malignant) or lymphomas. The underlying pathogenic mechanisms are different and therapies aim at targeting the dangerous either B‐cell or plasma cell clones. Recently, high‐throughput technologies, and next‐generation
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Long-term walking ability and patient satisfaction after lower limb functional surgery in patients affected by Charcot-Marie-Tooth disease: A retrospective study. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-08-05 Irene Carantini,Andrea Merlo,Donatella Esposito,Paolo Zerbinati,Luca Gaiani,Francesco Ferraro
Structural foot deformities consequent to Charcot Marie Tooth (CMT) can be treated by functional surgery (FS). This study aims to evaluate both long‐term walking ability and patients' satisfaction in CMT subjects who underwent FS during their lifetime. We conducted a retrospective observational study. Age, sex, CMT type, comprehensive surgical history, current walking ability assessed by the Walking
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Placebo effect in chronic inflammatory demyelinating polyneuropathy: The PATH study and a systematic review. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-08-05 Richard A Lewis,David R Cornblath,Hans-Peter Hartung,Gens Sobue,John-Philip Lawo,Orell Mielke,Billie L Durn,Vera Bril,Ingemar S J Merkies,Paul Bassett,Alexa Cleasby,Ivo N van Schaik,
The Polyneuropathy And Treatment with Hizentra (PATH) study required subjects with chronic inflammatory demyelinating polyneuropathy (CIDP) to show dependency on immunoglobulin G (IgG) and then be restabilized on IgG before being randomized to placebo or one of two doses of subcutaneous immunoglobulin (SCIG). Nineteen of the 51 subjects (37%) randomized to placebo did not relapse over the next 24 weeks
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Neurolymphomatosis, a rare manifestation of peripheral nerve involvement in lymphomas: Suggestive features and diagnostic challenges. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-07-27 Marta Campagnolo,Mario Cacciavillani,Tiziana Cavallaro,Sergio Ferrari,Roberto Gasparotti,Renato Zambello,Chiara Briani
Neurolymphomatosis, the infiltration of the peripheral nervous system from lymphoid cells, represents an uncommon manifestation of lymphomas. We describe the challenging diagnostic work‐up in a patient with neurolymphomatosis. A 58‐year‐old woman with previous breast diffuse large B‐cell lymphoma treated with chemo‐ and radiation‐therapy, presented with dysesthesias, neuropathic pain at left abdomen
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Peripheral neuropathy symptoms in wild type transthyretin amyloidosis. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-07-27 Fernanda Wajnsztajn Yungher,Arreum Kim,Amelia Boehme,Inna Kleyman,Louis H Weimer,Mathew S Maurer,Thomas H Brannagan
To propose a correlation between polyneuropathy and ATTRwt based on retrospective analysis of patients with ATTRwt. We reviewed 151 ATTRwt patients followed by the amyloid cardiac clinic (group A) for symptoms of neuropathy and 12 patients with ATTRwt evaluated in the Neurology Department (group B) with objective measures of neuropathy. Medical history, electrodiagnosis, laboratory and skin biopsies
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Diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy in clinical practice: A survey among Dutch neurologists. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-07-09 Merel C Broers,Pieter A van Doorn,Krista Kuitwaard,Filip Eftimov,Paul W Wirtz,Stephan Goedee,Hester F Lingsma,Bart C Jacobs
The diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is often a challenge. The clinical presentation is diverse, accurate biomarkers are lacking, and the best strategy to initiate and maintain treatment is unclear. The aim of this study was to determine how neurologists diagnose and treat CIDP. We conducted a cross‐sectional survey on diagnostic and treatment
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A novel HSPB1 mutation associated with a late onset CMT2 phenotype: Case presentation and systematic review of the literature. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-07-08 Arens Taga,David R Cornblath
Mutations in the HSPB1 gene are associated with Charcot‐Marie‐Tooth (CMT) disease type 2F (CMT2F) and distal hereditary motor neuropathy type 2 (dHMN2). More than 18 pathogenic mutations spanning across the whole HSPB1 gene have been reported. Three family members with a novel p.P57S (c.169C>T) HSPB1 mutation resulting in a late onset axonal neuropathy with heterogeneous clinical and electrophysiological
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Diagnosis of Guillain-Barré syndrome and validation of the Brighton criteria in Malaysia. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-06-29 Cheng-Yin Tan,Siti Nur Omaira Razali,Khean-Jin Goh,Nortina Shahrizaila
We aimed to evaluate the key diagnostic features of Guillain‐Barré syndrome (GBS) in Malaysian patients and validate the Brighton criteria. This was a retrospective study of patients presenting with GBS and Miller Fisher syndrome (MFS) between 2010 and 2019. The sensitivity of the Brighton criteria was evaluated. A total of 128 patients (95 GBS, 33 MFS) were included. In the GBS cohort, 92 (97%) patients
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Validation of the Italian version of the Charcot-Marie-Tooth Health Index. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-06-24 Chiara Pisciotta,Emma Ciafaloni,Riccardo Zuccarino,Daniela Calabrese,Paola Saveri,Silvia Fenu,Irene Tramacere,Filippo Genovese,Nuran Dilek,Nicholas E Johnson,Chad Heatwole,David N Herrmann,Davide Pareyson,
The Charcot‐Marie‐Tooth Health Index (CMT‐HI) is a disease‐specific patient‐reported outcome measure measuring overall disease burden in Charcot‐Marie‐Tooth (CMT) patients, designed for natural history studies and clinical trials in English‐speaking affected individuals. We developed and validated its Italian Charcot‐Marie‐Tooth Health Index (I‐CMT‐HI) version. The questionnaire was translated and
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Diabetic polyneuropathy: Bridging the translational gap. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-06-23 Masaki Kobayashi,Douglas W Zochodne
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Evolving concepts on the role of dyslipidemia, bioenergetics, and inflammation in the pathogenesis and treatment of diabetic peripheral neuropathy. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-06-23 Amro M Stino,Amy E Rumora,Bhumsoo Kim,Eva L Feldman
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Acquired and inherited amyloidosis: Knowledge driving patients' care. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-06-23 Laura Obici,David Adams
Until recently, systemic amyloidoses were regarded as ineluctably disabling and life‐threatening diseases. However, this field has witnessed major advances in the last decade, with significant improvements in therapeutic options and in the availability of accurate and non‐invasive diagnostic tools. Outstanding progress includes unprecedented hematological response rates provided by risk‐adapted regimens
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Expanding the spectrum of SPTLC1-related disorders beyond hereditary sensory and autonomic neuropathies: A novel case of the distinct "S331 syndrome". J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-06-11 Fabiana Rossi,Giorgia Bruno,Mario Fratta,Davide Colavito,Sara Casertano,Simone Sampaolo,Mariano Oliva,Gianfranco Puoti
Hereditary sensory and autonomic neuropathies (HSAN) encompass a group of peripheral nervous system disorders characterized by remarkable heterogeneity from a clinical and genetic point of view. Mutations in SPTLC1 gene are responsible for HSAN type IA, which usually starts from the second to fourth decade with axonal neuropathy, sensory loss, painless distal ulcerations, and mild autonomic features
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Home monitoring of maintenance intravenous immunoglobulin therapy in patients with chronic inflammatory neuropathy. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-06-11 Pietro Emiliano Doneddu,Daniele Mandia,Francesco Gentile,Francesca Gallia,Giuseppe Liberatore,Fabrizia Terenghi,Marta Ruiz,Eduardo Nobile-Orazio
To evaluate the utility of different outcome measures to monitor dose adjustment of intravenous immunoglobulin (IVIg) therapy in patients with chronic inflammatory neuropathy (CIN). We assessed the adjustment of IVIg maintenance therapy in 20 patients (10 CIDP and 10 MMN) by regularly monitoring grip strength (GS) using a Martin Vigorimeter, RODS, and quality of life using the SF‐36 questionnaire.
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Riveting hammer vibration damages mechanosensory nerve endings. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-06-09 Jordan J Zimmerman,James L W Bain,Chaowen Wu,Hans Lindell,Snaevar L Grétarsson,Danny A Riley
Hand‐arm vibration syndrome (HAVS) is an irreversible neurodegenerative, vasospastic, and musculoskeletal occupational disease of workers who use powered hand tools. The etiology is poorly understood. Neurological symptoms include numbness, tingling, and pain. This study examines impact hammer vibration‐induced injury and recoverability of hair mechanosensory innervation. Rat tails were vibrated 12 min/d
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A novel homozygous variant extending the peripheral myelin protein 22 by 9 amino acids causes early-onset Charcot-Marie-Tooth disease with predominant severe sensory ataxia. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-05-29 Alberto A Zambon,Matthew Pitt,Matilde Laurà,James M Polke,Mary M Reilly,Francesco Muntoni
Peripheral myelin protein 22 (PMP22) related neuropathies account for over 50% of inherited peripheral neuropathies. A gene copy variation results in CMT1A (duplication) and hereditary neuropathy with liability to pressure palsies (HNPP; single deletion). Point mutations comprise both phenotypes. The underlying pathological mechanisms are incompletely understood and biallelic mutations of PMP22 are
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Description of a large cohort of Caucasian patients with V122I ATTRv amyloidosis: Neurological and cardiological features. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-05-29 Luca Gentile,Gianluca Di Bella,Fabio Minutoli,Francescopaolo Cucinotta,Laura Obici,Roberta Mussinelli,Ilenia Arimatea,Massimo Russo,Antonio Toscano,Giuseppe Vita,Anna Mazzeo
V122I is one of more than 130 mutations in transthyretin gene associated with hereditary TTR (ATTRv) amyloidosis. Main clinical expression is an infiltrative pseudohypertrophic cardiomyopathy with mild or no neurological symptoms. It is particularly common among African‐Americans (prevalence: 3%‐4%). We report 12 subjects from seven unrelated Caucasian families hailing from Sicily and carrying the
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Validation of the Italian version of the Charcot-Marie-Tooth disease Pediatric Scale. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-05-26 Riccardo Zuccarino,Valeria Prada,Isabella Moroni,Emanuela Pagliano,Maria Foscan,Giulia Robbiano,Chiara Pisciotta,Kayla Cornett,Rosemary Shy,Angelo Schenone,Davide Pareyson,Michael Shy,Joshua Burns
The Charcot‐Marie‐Tooth disease Pediatric Scale (CMTPedS) is a Rasch‐built clinical outcome measure of disease severity. It is valid, reliable, and responsive to change for children and adolescents aged 3 to 20 years. The aim of this study was to translate and validate an Italian version of the CMTPedS using a validated framework of transcultural adaptation. The CMTPedS (Italian) was translated and
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Guillain-Barré syndrome during SARS-CoV-2 pandemic: A case report and review of recent literature. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-05-26 Erika Scheidl,Daniel Diez Canseco,Aleksandar Hadji-Naumov,Benjamin Bereznai
Acute demyelinating inflammatory polyneuropathy (AIDP) is the most common type of Guillain‐Barré syndrome (GBS) in Europe, following several viral and bacterial infections. Data on AIDP‐patients associated with SARS‐CoV‐2 (coronavirus‐2) infection are scarce. We describe the case of a 54‐years‐old Caucasian female patient with typical clinical and electrophysiological manifestations of AIDP, who was
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Motor chronic inflammatory demyelinating polyneuropathy (CIDP) in 17 patients: Clinical characteristics, electrophysiological study, and response to treatment. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-05-26 Antoine Pegat,William Boisseau,Thierry Maisonobe,Rabab Debs,Timothée Lenglet,Dimitri Psimaras,Arièle Azoulay-Cayla,Emmanuel Fournier,Karine Viala
Motor chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare and poorly described subtype of CIDP. We aimed to study their clinical and electrophysiological characteristics and response to treatment. From a prospective database of CIDP patients, we included patients with definite or probable CIDP with motor signs and without sensory signs/symptoms at diagnosis. Patients were considered
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RELEVANCE OF DIAGNOSTIC INVESTIGATIONS IN CHRONIC INFLAMMATORY DEMYELINATING POLIRADICULONEUROPATHY: DATA FROM THE ITALIAN CIDP DATABASE. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-05-13 Giuseppe Liberatore,Fiore Manganelli,Dario Cocito,Raffaella Fazio,Chiara Briani,Massimiliano Filosto,Luana Benedetti,Giovanni Antonini,Giuseppe Cosentino,Stefano Jann,Anna Mazzeo,Andrea Cortese,Girolama Alessandra Marfia,Angelo Maurizio Clerici,Gabriele Siciliano,Marinella Carpo,Mario Sabatelli,Giuseppe Lauria,Tiziana Rosso,Eduardo Nobile Orazio,
The objective of our work was to report the clinical features and the relevance of diagnostic investigations in patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). We retrospectively reviewed data from patients with a clinical diagnosis of CIDP included in a national database. Among the 500 included patients with a clinical diagnosis of CIDP, 437 patients (87%) fulfilled
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High glucose level as a modifier factor in CMT1A patients. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-05-12 Juliana B Secchin,Rita C C Leal,Charles M Lourenço,V D Marques,Patricia T L Nogueira,Andre C J Santos,Pedro J Tomaselli,Wilson Marques
Charcot‐Marie‐Tooth disease type 1A (CMT1A) is the most common type of hereditary neuropathy worldwide and diabetes mellitus (DM) is the most frequent cause of peripheral neuropathy in the Western world. CMT1A typically manifest as a predominant motor neuropathy, while, DM‐related neuropathy often manifests as a predominant sensory disorder. There are some evidences that CMT1A patients that also had
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Genetic spectrum of MCM3AP and its relationship with phenotype of Charcot-Marie-Tooth disease. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-05-07 Hai-Lin Dong,Qiao Wei,Jia-Qi Li,Hong-Fu Li,Ge Bai,Huan Ma,Zhi-Ying Wu
Mutations in MCM3AP have recently been reported to cause autosomal recessive Charcot‐Marie‐Tooth disease (CMT). However, only nine CMT families with MCM3AP mutations have been reported and genotype‐phenotype correlation remains unclear. This study aimed to investigate the genetic spectrum of MCM3AP and its relationship with phenotype of CMT. Whole‐exome sequencing (WES) was performed in the family
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Early onset demyelinating Charcot-Marie-Tooth disease caused by a novel in-frame isoleucine deletion in peripheral myelin protein 2. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-05-04 Alessandro Geroldi,Valeria Prada,Francesca Veneri,Lucia Trevisan,Paola Origone,Marina Grandis,Angelo Schenone,Chiara Gemelli,Paola Lanteri,Paola Fossa,Paola Mandich,Emilia Bellone
Peripheral myelin protein 2 (PMP2) is a small protein located on the cytoplasmic side of compact myelin, involved in the lipids transport and in the myelination process. In the last years few families affected with demyelinating Charcot‐Marie‐Tooth neuropathy (CMT1), caused by PMP2 mutations, have been identified. In this study we describe the first case of a PMP2 in‐frame deletion. PMP2 was analyzed
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Real world, open label experience with lacosamide against acute painful oxaliplatin-induced peripheral neurotoxicity. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-04-29 Andreas A Argyriou,Foteini Kalofonou,Pantelis Litsardopoulos,Garifallia G Anastopoulou,Dimitri Psimaras,Jordi Bruna,Haralabos P Kalofonos
We report the outcome of a pilot, open‐label study that tested the potential of lacosamide (200 mg/bi.d) as an effective and safe symptomatic treatment against acute painful oxaliplatin‐induced peripheral neurotoxicity (OXAIPN). Lacosamide was introduced in 18 colorectal cancer patients with evidence of clinically significant acute, painful OXAIPN after infusion of the third course (T1) of oxaliplatin‐based
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Cold intolerance and neuropathic pain after peripheral nerve injury in upper extremity J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-04-28 Ernesta Magistroni, Giulia Parodi, Fabrizio Fop, Bruno Battiston, Lars B. Dahlin
Cold intolerance and pain can be a substantial problem in patients with peripheral nerve injury. We aimed at investigating the relationships among sensory recovery, cold intolerance, and neuropathic pain in patients affected by upper limb peripheral nerve injury (Sunderland type V) treated with microsurgical repair, followed by early sensory re‐education. In a cross‐sectional clinical study, 100 patients
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Pathological, ultrasonographic, and electrophysiological characterization of clinically diagnosed cases of pure neuritic leprosy. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-04-23 Bhaskar Shukla,Rajesh Verma,Vijay Kumar,Manoj Kumar,Kiran P Malhotra,Ravindra K Garg,Hardeep S Malhotra,Praveen K Sharma,Neeraj Kumar,Ravi Uniyal,Shweta Pandey,Imran Rizvi
A subset of neuritic form of leprosy, called pure neuritic leprosy (PNL), seen in a minority of leprosy patients, is characterized by peripheral neuropathy without skin lesions and an absence of acid‐fast bacilli on skin smears. Patients with PNL are often started on drug therapy without confirmation of diagnosis. We, therefore, did a prospective study of clinically diagnosed PNL patients with correlation
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Perisynaptic Schwann cells phagocytose nerve terminal debris in a mouse model of Guillain-Barré syndrome. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-04-20 Madeleine E Cunningham,Gavin R Meehan,Sophie Robinson,Denggao Yao,Rhona McGonigal,Hugh J Willison
In mouse models of acute motor axonal neuropathy, anti‐ganglioside antibodies (AGAbs) bind to motor axons, notably the distal nerve, and activate the complement cascade. While complement activation is well studied in this model, the role of inflammatory cells is unknown. Herein we aimed to investigate the contribution of phagocytic cells including macrophages, neutrophils and perisynaptic Schwann cells
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Incidence and characteristics of neurotoxicity in immune checkpoint inhibitors with focus on neuromuscular events: Experience beyond the clinical trials. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-03-24 Jordi Bruna,Andreas A Argyriou,Garifallia G Anastopoulou,Montse Alemany,Ernest Nadal,Foteini Kalofonou,Josep M Piulats,Marta Simó,Roser Velasco,Haralabos P Kalofonos
Immune checkpoint inhibitors (ICIs) are associated with various neurological adverse events (NAEs). We herein explored the incidence and clinical phenotype of immune‐related NAEs in cancer patients. Medical records of ICI‐treated cancer patients were reviewed between the years 2010 and 2018, with an aim to characterize immuno‐related NAEs. A total of 1185 ICIs‐treated patients were identified, 63.7%
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Clinical features of inherited neuropathy with BSCL2 mutations in Japan. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-03-12 Satoshi Ishihara,Yuji Okamoto,Hajime Tanabe,Akiko Yoshimura,Yujiro Higuchi,Jun-Hui Yuan,Akihiro Hashiguchi,Hiroyuki Ishiura,Jun Mitsui,Shugo Suwazono,Yasushi Oya,Masayuki Sasaki,Masanori Nakagawa,Shoji Tsuji,Yusuke Ohya,Hiroshi Takashima
Heterozygous mutations in the Berardinelli‐Seip congenital lipodystrophy 2 (BSCL2) gene have been reported with different clinical phenotypes including Silver syndrome (SS)/spastic paraplegia 17 (SPG17), distal hereditary motor neuropathy type V (dHMN‐V), and Charcot‐Marie‐Tooth (CMT) disease type 2. We screened 407 Japanese patients who were clinically suspected of having CMT by exome sequencing and
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KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-03-06 Tarishi Nemani,Dora Steel,Marios Kaliakatsos,Catherine DeVile,Athina Ververi,Richard Scott,Spas Getov,Sniya Sudhakar,Alison Male,Kshitij Mankad,,Francesco Muntoni,Mary M Reilly,Manju A Kurian,Lucinda Carr,Pinki Munot
KIF1A‐related disorders (KRD) were first described in 2011 and the phenotypic spectrum has subsequently expanded to encompass a range of central and peripheral nervous system involvement. Here we present a case series demonstrating the range of clinical, neurophysiological, and radiological features which may occur in childhood‐onset KRD. We report on all the children and young people seen at a single
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Genotype-phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome. J. Peripher. Nerv. Syst. (IF 2.466) Pub Date : 2020-02-24 Andreas Thimm,Ahmad Rahal,Ulrike Schoen,Angela Abicht,Stephan Klebe,Christoph Kleinschnitz,Tim Hagenacker,Mark Stettner
PHARC syndrome is a rare neurodegenerative disorder caused by mutations in the ABHD12 gene. It is a genetically heterogeneous and clinically variable disease, which is characterized by demyelinating polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa, and early‐onset cataract and can easily be misdiagnosed as other neurologic disorders with a similar clinical picture, such as Charcot‐Marie‐Tooth