Journals Journal of the Peripheral Nerv...

Journal of the Peripheral Nervous System : JPNS
Hiroya Naruse, So Okubo, Atsushi Sudo, Jun Mitsui, Takashi Mikata, Hiroyuki Ishiura, Shinichi Morishita, Shoji Tsuji, Tatsushi Toda
BACKGROUND AND AIMS: Pathogenic variants of HSPB1, the gene encoding the small heat shock protein 27, have been reported to cause autosomal dominant distal hereditary motor neuropathy (dHMN) type II and autosomal dominant Charcot-Marie-Tooth (CMT) disease with minimal sensory involvement (CMT2F). This study aimed to describe the clinical features of patients in a family with late-onset dHMN carrying the Pro39Leu variant of HSPB1. METHODS: Whole-exome sequence analysis identified a heterozygous pathogenic variant (Pro39Leu) of HSPB1 in the proband...
May 30, 2023: Journal of the Peripheral Nervous System: JPNS
Guido Cavaletti, Katherine Forsey, Paola Alberti
BACKGROUND AND AIMS: Several widely used medications, with a relevant efficacy profile, are toxic to the peripheral nervous system and an even larger number of agents are suspected to be neurotoxic. There are concerns about the use of these drugs in patients with Charcot-Marie-Tooth disease (CMT), a hereditary motor and sensory neuropathy. This review provides evidence-based updated recommendations on this clinically-relevant topic. METHODS: A systematic review of the available studies/reports written in English was performed from July-September 2022 including in the search string all reported putative neurotoxic drugs...
May 30, 2023: Journal of the Peripheral Nervous System: JPNS
Bresciani Lorenzo, Salvalaggio Alessandro, Vegezzi Elisa, Visentin Andrea, Fortuna Andrea, Anglani Mariagiulia, Cacciavillani Mario, Stefano Masciocchi, Silvia Scaranzin, Carecchio Miryam, Martinuzzi Andrea, Gastaldi Matteo, Briani Chiara
AIM: Nodo- and paranodopathies are autoimmune neuropathies associated with antibodies to nodal-paranodal antigens (neurofascin 140/186 and 155, contactin-1, contactin-associated protein 1 [Caspr1] characterized by peculiar clinical features, poor response to standard immunotherapies (e.g, intravenous immunoglobulins, IVIg). Improvement after anti-CD20 monoclonal antibody therapy has been reported. Data on Caspr1 antibodies pathogenicity are still preliminary, and longitudinal titers have been poorly described...
May 29, 2023: Journal of the Peripheral Nervous System: JPNS
Filippos Stavropoulos, Elena Georgiou, Natasa Schiza, Shaughn Bell, Robert H Baloh, Kleopas A Kleopa, Irene Sargiannidou
BACKGROUND AND AIMS: Mitofusin 1 (MFN1) and MFN2 are outer mitochondrial membrane fusogenic proteins regulating mitochondrial network morphology. MFN2 mutations cause Charcot-Marie-Tooth type 2A (CMT2A), an axonal neuropathy characterized by mitochondrial fusion defects, which in the case of a GTPase domain mutant, were rescued following wild type MFN1/2 (MFN1/2WT ) overexpression. In this study, we compared the therapeutic efficiency between MFN1WT and MFN2WT overexpression in correcting mitochondrial defects induced by the novel MFN2K357T mutation located in the highly conserved R3 region...
May 23, 2023: Journal of the Peripheral Nervous System: JPNS
Peter N Hansen, Abdullahi A Mohammed, Lars K Markvardsen, Henning Andersen, Hatice Tankisi, Søren H Sindrup, Thomas Krøigård
BACKGROUND AND AIMS: Intravenous immunoglobulin (IVIg) has a rapid clinical effect which cannot be explained by remyelination during each treatment cycle in patients with chronic inflammatory demyelinating polyneuropathy (CIDP). This study aimed to investigate axonal membrane properties during the IVIg treatment cycle and their potential correlation with clinically relevant functional measurements. METHODS: Motor nerve excitability testing (NET) of the median nerve was performed before and 4 and 18 days after initiation of an IVIg treatment cycle in 13 treatment-naïve (early) CIDP patients and 24 CIDP patients with long term (late) IVIg treatment, 12 CIDP patients treated with subcutaneous immunoglobulin (SCIg) and 55 healthy controls...
May 22, 2023: Journal of the Peripheral Nervous System: JPNS
Eva Maria Weiß, Miriam Geldermann, Rudolf Martini, Dennis Klein
BACKGROUND AND AIMS: The complex cellular and molecular interactions between Schwann cells (SCs) and macrophages during Wallerian degeneration are a prerequisite to allow rapid uptake and degradation of myelin debris and axonal regeneration after peripheral nerve injury. In contrast, in non-injured nerves of Charcot-Marie-Tooth 1 neuropathies, aberrant macrophage activation by SCs carrying myelin gene defects is a disease amplifier that drives nerve damage and subsequent functional decline...
May 20, 2023: Journal of the Peripheral Nervous System: JPNS
K Dinesh, N White, L Baker, J E Sowden, S Behrens-Spraggins, E Wood, J Charles, D N Herrmann, G Sharma, K Eichinger
BACKGROUND/AIMS: Charcot-Marie-Tooth Disease type 1A (CMT1A), the most common inherited peripheral neuropathy, is characterized by progressive sensory loss and weakness which results in impaired mobility. Increased understanding of the genetics and pathophysiology of CMT1A has led to development of potential therapeutic agents, necessitating clinical trial readiness. Wearable sensors may provide useful outcome measures for future trials. METHODS: Individuals with CMT1A and unaffected controls were recruited for this 12-month study...
May 20, 2023: Journal of the Peripheral Nervous System: JPNS
Poornima Jayadev Menon, Petya Bogdanova-Mihaylova, Garret McDermott, Paul Crowley, Ronan P Killeen, Michael Alexander, Sean O' Dowd, Sinéad M Murphy
AIM: Hereditary sensory neuropathy (HSN) 1E is a neurodegenerative disorder caused by pathogenic variants in DNA methyltransferase 1 (DNMT1). It is characterised by sensorineural deafness, sensory neuropathy and cognitive decline. Variants in DNMT1 are also associated with autosomal dominant cerebellar ataxia, deafness and narcolepsy. METHODS: A 42 year old man presented with imbalance, lancinating pains, numerous paucisymptomatic injuries, progressive deafness since his mid-20s, mild cognitive decline and apathy...
May 18, 2023: Journal of the Peripheral Nervous System: JPNS
Norifumi Kawamoto, Yuichi Hamada, Shunsuke Kobayashi, Hiroya Naruse, Hiroyuki Ishiura, Takashi Matsukawa, Jun Mitsui, Shoji Tsuji, Masahiro Sonoo, Tatsushi Toda
AIM: Hereditary neuropathy with liability to pressure palsies (HNPP) is a peripheral neuropathy with autosomal dominant inheritance. Diagnosis can be made from the characteristic abnormalities determined by nerve conduction studies (NCS), including subclinical deficits at physiological compression sites. Heterozygous deletion of the chromosome 17p11.2-p12 region including the peripheral myelin protein 22 gene (PMP22) is the cause in the majority of cases. However, the loss of function of PMP22 due to frameshift-causing insertion/deletion, missense, nonsense, or splice-site disrupting variants cause HNPP in some patients...
May 11, 2023: Journal of the Peripheral Nervous System: JPNS
Tong Tong Wu, Richard S Finkel, Carly E Siskind, Shawna M E Feely, Joshua Burns, Mary M Reilly, Francesco Muntoni, Evelin Milev, Timothy Estilow, Michael E Shy, Sindhu Ramchandren
OBJECTIVE: To evaluate the parent-proxy version of the pediatric Charcot Marie Tooth specific quality of life (pCMT-QOL) outcome instrument for children aged 7 or younger with CMT. We have previously developed and validated the direct-report pCMT-QOL for children aged 8-18 years and a parent proxy version of the instrument for children 8-18 years old. There is currently no CMT-QOL outcome measure for children aged 0-7 years old. METHODS: Testing was conducted in parents or caregivers of children aged 0-7 years old with CMT evaluated at participating INC sites from the USA, United Kingdom, and Australia...
May 11, 2023: Journal of the Peripheral Nervous System: JPNS
Alex Vicino, Stéphane Cochet, Silvia Pistocchi, Curdin Conrad, Camillo Ribi, Renaud Du Pasquier, Jean-Philippe Brouland, Marie Théaudin
AIMS: To report an exceptional case of nerve infiltration by an otherwise benign chronic B cell leukemia, inducing severe mononeuritis multiplex. METHODS: The patient underwent extensive evaluation, including nerve conduction study and myography, brain and plexus MRI and nerve biopsy. RESULTS: The clinical and electrophysiological diagnosis was a mononeuritis multiplex with severe motor and sensory involvement; only the nerve biopsy allowed definite diagnosis and introduction of chemotherapy, leading to resolution of sensory deficit and progressive motor improvement...
April 29, 2023: Journal of the Peripheral Nervous System: JPNS
Luis Querol, Richard A Lewis, Hans-Peter Hartung, Pieter A Van Doorn, Erik Wallstroem, Xiaodong Luo, Miguel Alonso-Alonso, Nazem Atassi, Richard A C Hughes
BACKGROUND AND AIMS: Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare immune-mediated disease of the peripheral nerves, with significant unmet treatment needs. Clinical trials in CIDP are challenging; thus, new trial designs are needed. We present design of an open-label phase 2 study (NCT04658472) evaluating efficacy and safety of SAR445088, a monoclonal antibody targeting complement C1s, in CIDP. METHODS: This phase 2, proof-of-concept, multicenter, open-label trial will evaluate the efficacy, and safety of SAR445088 in 90 patients with CIDP across three groups: 1) currently treated with standard-of-care (SOC) therapies, including immunoglobulin or corticosteroids (SOC-Treated); 2) refractory to SOC (SOC-Refractory); and 3) naïve to SOC (SOC-Naïve)...
April 29, 2023: Journal of the Peripheral Nervous System: JPNS
Rodrigo Melo Conde, Iara Senem, Marcia Dos Santos, Flávia de Lima Osório, Wilson Marques Júnior
BACKGROUND AND AIMS: Effective treatments for Charcot-Marie-Tooth (CMT) disease lack. Current treatments, such as ankle and foot surgery/orthoses, analgesics, and physiotherapy, focus on relieving the symptoms. Few randomized controlled trials (RCTs) investigated the effectiveness of exercise in patients with CMT, and a systematic review summarizing the effects of such treatments is outdated. This study aims to systematically review the effects of exercise on muscle strength, function, aerobic capacity, and quality of life in CMT...
April 15, 2023: Journal of the Peripheral Nervous System: JPNS
Tatiana Hamadeh, Perry T C van Doormaal, Mariëlle H J Pruppers, Johannes P M van de Mortel, Janneke G J Hoeijmakers, David R Cornblath, Alexander F J E Vrancken, Catharina G Faber, Nicolette C Notermans, Ingemar S J Merkies
BACKGROUND: International consensus on IgM ± anti-MAG ± PNP (IgM PNP) is lacking. Despite increasing interest in clinical trials, validated disease-specific measures are needed to adequately capture limitations and changes over time. The IMAGiNe (IgM ± anti-myelin associated glycoprotein [MAG] peripheral neuropathy) study surges as an international collaboration to create a standardized registry of patients with IgM ± anti-MAG PNP...
April 11, 2023: Journal of the Peripheral Nervous System: JPNS
Anna K Becker, Alexandru Babes, Miriam M Düll, Mohammad Khalil, Zoltan Kender, Jan Gröner, Barbara Namer, Peter W Reeh, Susanne K Sauer
BACKGROUND: Diabetic metabolism causes changes of the chemical milieu including accumulation of reactive carbonyl species, e.g. methylglyoxal (MGO). MGO activates chemosensitive TRPA1 on nociceptors, but the contribution to neuronal pathophysiology causing pain and hyperalgesia in diabetic neuropathy is not fully understood. METHODS: We employed single-nerve-fiber recordings in type 2 diabetes patients with (spDN) and without cutaneous pain (DN) and in streptozotocin-diabetic and healthy mice...
April 7, 2023: Journal of the Peripheral Nervous System: JPNS
Pannathat Soontrapa, Peter J Dyck, P James B Dyck, Caroline M Klein, JaNean Engelstad, Jenny Davies, Shelly Shahar, W Scott Harmsen, Jay Mandrekar, Robert J Spinner, Cristiane M Ida, Christopher J Klein
BACKGROUND AND AIMS: Comprehensive study of sural nerve biopsy utility based on individual histopathologic preparations is lacking. We aimed to quantify the value of different histologic preparations in diagnosis. METHODS: One hundred consecutive sural nerves were studied by standard histological preparations plus graded teased nerve fibers (GTNF), immunohistochemistry, and epoxy-semithin morphometry. Three examiners scored the individual preparations separately by a questionnaire of neuropathic and interstitial abnormalities, masked to the biopsy number, versus a gold-standard of all preparations...
April 5, 2023: Journal of the Peripheral Nervous System: JPNS
Daniel White, Munawwar Abdulla, Susanna B Park, David Goldstein, Gila Moalem-Taylor, Justin G Lees
BACKGROUND AND AIMS: The expanding use of chemotherapy in curative cancer treatment has simultaneously resulted in a substantial and growing cohort of cancer survivors with prolonged disability from chemotherapy-induced peripheral neuropathy (CIPN). CIPN is associated with several commonly prescribed chemotherapeutics, including taxanes, platinum-based drugs, vinca alkaloids, bortezomib and thalidomide. These distinct classes of chemotherapeutics, with their varied neurotoxic mechanisms, often cause patients to suffer from a broad profile of neuropathic symptoms including chronic numbness, paraesthesia, loss of proprioception or vibration sensation and neuropathic pain...
March 30, 2023: Journal of the Peripheral Nervous System: JPNS
Marina Stavrou, Alexia Kagiava, Irene Sargiannidou, Elena Georgiou, Kleopas A Kleopa
Charcot-Marie-Tooth (CMT) neuropathies are a group of genetically and phenotypically heterogeneous disorders that predominantly affect the peripheral nervous system. Unraveling the genetic and molecular mechanisms, as well as the cellular effects of CMT mutations, has facilitated the development of promising gene therapy approaches. Proposed gene therapy treatments for CMTs include virally or non-virally mediated gene replacement, addition, silencing, modification, and editing of genetic material. For most CMT neuropathies, gene- and disease- and even mutation-specific therapy approaches targeting the neuronal axon or myelinating Schwann cells may be needed, due to the diversity of underlying cellular and molecular-genetic mechanisms...
March 25, 2023: Journal of the Peripheral Nervous System: JPNS
(no author information available yet)
No abstract text is available yet for this article.
March 14, 2023: Journal of the Peripheral Nervous System: JPNS
(no author information available yet)
No abstract text is available yet for this article.
May 2023: Journal of the Peripheral Nervous System: JPNS
Fetch more papers »
Fetching more papers... Fetching...
Remove bar
Read by QxMD icon Read

Save your favorite articles in one place with a free QxMD account.


Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"

We want to hear from doctors like you!

Take a second to answer a survey question.