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Journal of the Peripheral Nervous System: JPNS

J D Triplett, G A Nicholson, C M Sue, T Hornemann, C Yiannikas
Hereditary sensory and autonomic neuropathy type I (HSAN-1) is an autosomal dominant sensory neuropathy occurring secondary to mutations in the SPTLC1 and SPTLC2 genes. We present two generations of a single family with Ser384Phe mutation in the SPTLC2 gene located on chromosome 14q24 characterized by a typical HSAN-1c presentation, with additional findings upper motor neuron signs, early demyelinating features on nerve conduction studies and type II juxtafoveal retinal telangiectasias also known as macular telangiectasias (MacTel II)...
March 13, 2019: Journal of the Peripheral Nervous System: JPNS
S Tozza, S Magri, E M Pennisi, E Schirinzi, C Pisciotta, F Balistreri, D Severi, G Ricci, G Siciliano, F Taroni, L Santoro, F Manganelli
EGR2 (Early Growth Response 2) is one of the most important transcription factors involved in myelination in the peripheral nervous system. EGR2 mutations typically cause different forms of demyelinating neuropathy, i.e. Charcot-Marie-Tooth type 1D (CMT1D), Dejerine-Sottas Syndrome (DSS) and Congenital Hypomyelinating Neuropathy (CHN). However, the EGR2 gene has been recently associated with an axonal phenotype (CMT2) in a large CMT family. Here, we report another CMT family exhibiting an axonal phenotype associated with a missense change (c...
March 6, 2019: Journal of the Peripheral Nervous System: JPNS
Jade Phillips, Steve Courel, Adriana P Rebelo, Dana M Bis-Brewer, Tanya Bardakjian, Lois Dankwa, Ali G Hamedani, Stephan Züchner, Steven S Scherer
We report on two patients, with different POLG mutations, in whom axonal neuropathy dominated the clinical picture. One patient presented with late onset sensory axonal neuropathy caused by a homozygous c.2243G>C (p.Trp748Ser) mutation that resulted from uniparental disomy of the long arm of chromosome 15. The other patient had a complex phenotype that included early onset axonal CMT caused by compound heterozygous c.926G>A (p.Arg309His) and c.2209G>C (p.Gly737Arg) mutations.
March 6, 2019: Journal of the Peripheral Nervous System: JPNS
Ali Al-Zuhairy, Søren H Sindrup, Henning Andersen, Johannes Jakobsen
OBJECTIVE: To evaluate the long-term outcome in Danish patients treated for multifocal motor neuropathy (MMN). METHODS: A population-based, cross-sectional study of patients referred to the Danish hospital system between 1985 and 2006. RESULTS: Thirty-four MMN patients were identified, three had died of unrelated diseases, 10 were excluded, one did not reply to study request and 20 were included. The median disease duration was 24 years (IQR: 18...
February 12, 2019: Journal of the Peripheral Nervous System: JPNS
Justine Lerat, Corinne Magdelaine, Hélène Beauvais-Dzugan, Caroline Espil, Karima Ghorab, Philippe Latour, Paco Derouault, Franck Sturtz, Anne-Sophie Lia
Neurofilaments are neuron-specific intermediate filaments essential for the radial growth of axons during development and the maintenance of axonal diameter. Pathogenic variants of NEFL are associated with CMT1F, CMT2E, and CMTDIG and have been observed in less than 1% of CMT cases, resulting in the reporting of 35 variants in 173 CMT patients to date. However, only six variants have been reported in 17 patients with impaired hearing. No genotype-phenotype correlations have yet been established. Here, we report an additional case: a 69-year-old female, who originally presented with axonal sensory and motor neuropathy at the age of 45, associated with moderate sensorineural hearing loss, with a slight slope at high frequencies...
February 7, 2019: Journal of the Peripheral Nervous System: JPNS
Andoni Echaniz-Laguna, Philippe Latour
Heterozygous mutations in the inverted formin-2 (INF2) gene provoke focal segmental glomerulosclerosis (FSGS) and intermediate Charcot-Marie-Tooth (CMT) disease with FSGS. Here, we report four patients from a three-generation family with a new cryptic splicing INF2 mutation causing autosomal dominant intermediate CMT with minimal glomerular dysfunction. Three males and one female with a mean age of 51 years (26-87) presented with a slowly progressive sensorimotor polyneuropathy, pes cavus, and kyphoscoliosis...
January 24, 2019: Journal of the Peripheral Nervous System: JPNS
Haiyue Xu, Chao Zhang, Li Cao, Jie Song, Xuhua Xu, Baorong Zhang, Baohui Chen, Guohua Zhao
Hereditary sensory neuropathy (HSN) comprises a group of progressive peripheral neuropathies predominantly affecting the sensory nerves. To date, two different ATL3 gene mutations have been reported to be responsible for HSN type 1F (HSN1F). Here, we report a family in which the members presented numbness of the lower limbs and recurrent foot ulceration. Symptoms of foot ulcers disappeared in the years after onset, which suggests that the family members showed benign and mild symptoms compared with the affected patients reported previously...
January 24, 2019: Journal of the Peripheral Nervous System: JPNS
Constanza A Miguel, María C Raggio, Marcelo J Villar, Susana L Gonzalez, María F Coronel
Chemotherapy-induced peripheral neuropathy is a disabling condition induced by several frequently used chemotherapeutic drugs including the front-line agent oxaliplatin. Symptoms are predominantly sensory with the development of neuropathic pain. Alternative dosing protocols and treatment discontinuation are the only available therapeutic strategies. The aim of our work was to evaluate the potential of a synthetic derivative of progesterone, 17α-hydroxyprogesterone caproate (HPGC), in the prevention and treatment of oxaliplatin-evoked painful neuropathy...
January 24, 2019: Journal of the Peripheral Nervous System: JPNS
Guido Cavaletti, David R Cornblath, Ingemar S J Merkies, Tjeerd J Postma, Emanela Rossi, Paola Alberti, Jordi Bruna, Andreas A Argyriou, Chiara Briani, Roser Velasco, Haralabos P Kalofonos, Dimitri Psimaras, Damien Ricard, Andrea Pace, Catharina G Faber, Roy I Lalisang, Dieta Brandsma, Susanne Koeppen, Simon Kerrigan, Angelo Schenone, Wolfgang Grisold, Anna Mazzeo, Luca Padua, Susan G Dorsey, Marta Penas-Prado, Maria G Valsecchi
OBJECTIVE: To test if and how Chemotherapy-Induced Peripheral Neurotoxicity (CIPN) is perceived differently by patients and physicians, making assessment and interpretation challenging. METHODS: We performed a secondary analysis of the CI-PeriNomS study which included 281 patients with stable CIPN. We tested: a) the association between patients' perception of activity limitation in performing 8 common tasks and neurological impairment, and b) how the responses to questions related to these daily activities are interpreted by the treating oncologist...
January 23, 2019: Journal of the Peripheral Nervous System: JPNS
Ingemar S J Merkies, Ivo N van Schaik, Jean-Marc Léger, Vera Bril, Nan van Geloven, Hans-Peter Hartung, Richard A Lewis, Gen Sobue, John-Philip Lawo, Billie L Durn, David R Cornblath, Jan L De Bleecker, Claudia Sommer, Wim Robberecht, Mika Saarela, Jerzy Kamienowski, Zbigniew Stelmasiak, Björn Tackenberg, Orell Mielke
INTRODUCTION: Intravenous immunoglobulin (IVIG) is a potential therapy for chronic inflammatory demyelinating polyneuropathy (CIDP). METHODS: To investigate the efficacy and safety of the IVIG IgPro10 (Privigen®) for treatment of CIDP, results from PRIMA, a prospective, open-label, single-arm study of IVIG in Ig-naïve or IVIG-pretreated subjects (NCT01184846, n=28) and PATH, a double-blind, randomized study including an open-label, single-arm IVIG phase in IVIG-pretreated subjects (NCT01545076 IVIG restabilization phase, n=207) were analyzed separately and together (n=235)...
January 22, 2019: Journal of the Peripheral Nervous System: JPNS
Orell Mielke, Vera Bril, David R Cornblath, John-Philip Lawo, Nan van Geloven, Hans-Peter Hartung, Richard A Lewis, Ingemar S J Merkies, Gen Sobue, Billie Durn, Amgad Shebl, Ivo N van Schaik
In patients with chronic inflammatory demyelinating polyneuropathy (CIDP) intravenous immunoglobulin (IVIG) is recommended to be periodically reduced to assess the need for ongoing therapy. However, little is known about the effectiveness of restabilization with IVIG in patients who worsen after IVIG withdrawal. In the PATH study, the pre-randomization period included sudden stopping of IVIG followed by 12 weeks of observation. Those deteriorating were then restabilized with IVIG. Of 245 subjects who stopped IVIG, 28 did not show signs of clinical deterioration within 12 weeks...
January 22, 2019: Journal of the Peripheral Nervous System: JPNS
Zoi Kontogeorgiou, Katerina Nikolaou, Chrisoula Kartanou, Marianthi Breza, Marios Panas, Georgia Karadima, Georgios Koutsis
Charcot-Marie-Tooth disease type 4 C (CMT4C) is an autosomal recessive form of demyelinating peripheral neuropathy caused by mutations in SH3TC2, characterized by early onset, spine deformities and cranial nerve involvement. We screened SH3TC2 in 50 unrelated Greek patients with suspected demyelinating CMT and pedigree compatible with recessive inheritance. All patients had been previously screened for PMP22, GJB1 and MPZ mutations. We found 5 previously identified pathogenic mutations in SH3TC2 distributed among 13 patients in homozygosity or compound heterozygosity (p...
January 17, 2019: Journal of the Peripheral Nervous System: JPNS
Simone Thomas, Senda Ajroud-Driss, Mazen M Dimachkie, Christopher Gibbons, Roy Freeman, David M Simpson, J Robinson Singleton, A Gordon Smith
The Peripheral Neuropathy Research Registry (PNRR) is a prospective cohort of peripheral neuropathy (PN) patients focused on idiopathic axonal peripheral neuropathy. Patients with diabetic, HIV- and chemotherapy-induced peripheral neuropathies are enrolled as comparison groups. The PNRR is a multi-center collaboration initiated and funded by the Foundation for Peripheral Neuropathy (FPN) with the objective to recruit a well characterized cohort of patients with different phenotypes and symptoms in each diagnostic category, and to advance research through development of biomarkers and identification of previously unknown causes of PN...
January 10, 2019: Journal of the Peripheral Nervous System: JPNS
Carina Bunschoten, Filip Eftimov, W Ludo van der Pol, Bart C Jacobs
Chronic inflammatory demyelinating polyneuropathy (CIDP) is a heterogeneous immune-mediated disorder with extensive variation in clinical presentation, electrophysiological phenotype, treatment response and long-term outcome. This heterogeneity may reflect the existence of distinct subtypes of CIDP with a different pathogenesis that require personalized treatment. The International CIDP Outcome Study (ICOS) is a prospective, observational, multicenter cohort study that aims to describe this variation and to define clinical and biological determinants and predictors of these subtypes, disease activity, treatment response and outcome...
December 20, 2018: Journal of the Peripheral Nervous System: JPNS
Marta Ruiz, Annachiara Cagnin, Chiara Briani
No abstract text is available yet for this article.
March 2019: Journal of the Peripheral Nervous System: JPNS
José Berciano, Antonio García
No abstract text is available yet for this article.
March 2019: Journal of the Peripheral Nervous System: JPNS
Manuel Lousa, Carlos Vázquez-Huarte-Mendicoa, Antonio J Gutiérrez, Pedro Saavedra, Beatriz Navarro, Antonio Tugores
Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuromuscular disorder. This study involves the entire known CMT patient registry in Gran Canaria, represented by 256 patients belonging to 79 unrelated families, who were clinically and genetically characterized, along with physical and neurophysiological evaluation on 181 and 165 patients, respectively. Complete genotyping showed an estimated prevalence of CMT disease of 30.08/100 000 (95% confidence interval [CI] = 26.5;33.9), corresponding mainly (78...
March 2019: Journal of the Peripheral Nervous System: JPNS
Monica Saini, Wee Lin, Corrine Kang, Thirugnanam Umapathi
We aimed to elucidate characteristics of beriberi neuropathy (BB) in a general hospital (GH) setting. Nerve conduction studies (NCS), cross-referenced with clinical records of patients admitted to a GH (May 2011-July 2017), were reviewed for diagnosis of BB. Thirteen patients (age range 23-64 years; five women) were diagnosed with BB. Eleven were incarcerated (2-24 months) at time of index event. Eleven reported prior, severe anorexia (2-6 months); five reported significant weight loss, three had recurrent vomiting, and three reported alcohol misuse...
March 2019: Journal of the Peripheral Nervous System: JPNS
Maurice Sopacua, Janneke G J Hoeijmakers, Ingemar S J Merkies, Giuseppe Lauria, Stephen G Waxman, Catharina G Faber
Small-fiber neuropathy (SFN) is a disorder of thinly myelinated Aδ and unmyelinated C fibers. SFN is clinically dominated by neuropathic pain and autonomic complaints, leading to a significant reduction in quality of life. According to international criteria, the diagnosis is established by the assessment of intraepidermal nerve fiber density and/or quantitative sensory testing. SFN is mainly associated with autoimmune diseases, sodium channel gene variants, diabetes mellitus, and vitamin B12 deficiencies, although in more than one half of patients no etiology can be identified...
March 2019: Journal of the Peripheral Nervous System: JPNS
Chiara Briani, Andrea Visentin, Marta Campagnolo, Alessandro Salvalaggio, Sergio Ferrari, Tiziana Cavallaro, Renzo Manara, Roberto Gasparotti, Francesco Piazza
The peripheral nervous system may be involved at any stage in the course of lymphoproliferative diseases. The different underlying mechanisms include neurotoxicity secondary to chemotherapy, direct nerve infiltration (neurolymphomatosis), infections, immune-mediated, paraneoplastic or metabolic processes and nutritional deficiencies. Accordingly, the clinical features are heterogeneous and depend on the localization of the damage (ganglia, roots, plexi, and peripheral nerves) and on the involved structures (myelin, axon, and cell body)...
December 16, 2018: Journal of the Peripheral Nervous System: JPNS
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