keyword
https://read.qxmd.com/read/37869146/hereditary-transthyretin-amyloidosis-a-comprehensive-review-with-a-focus-on-peripheral-neuropathy
#21
REVIEW
Loris Poli, Beatrice Labella, Stefano Cotti Piccinelli, Filomena Caria, Barbara Risi, Simona Damioli, Alessandro Padovani, Massimiliano Filosto
Amyloidoses represent a group of diseases characterized by the pathological accumulation in the extracellular area of insoluble misfolded protein material called "amyloid". The damage to the tissue organization and the direct toxicity of the amyloidogenic substrates induce progressive dysfunctions in the organs involved. They are usually multisystem diseases involving several vital organs, such as the peripheral nerves, heart, kidneys, gastrointestinal tract, liver, skin, and eyes. Transthyretin amyloidosis (ATTR) is related to abnormalities of transthyretin (TTR), a protein that acts as a transporter of thyroxine and retinol and is produced predominantly in the liver...
2023: Frontiers in Neurology
https://read.qxmd.com/read/37849068/unveiling-the-clinical-and-electrophysiological-profile-of-cmtx6-insights-from-two-brazilian-families
#22
Victor Augusto Zanesi Maciel, Gustavo Maximiano-Alves, Rodrigo Siqueira Soares Frezatti, Anna Letícia De Moraes Alves, Bianca Mara Alves Andrade, Rita De Cassia Carvalho Leal, Pedro José Tomaselli, Mary M Reilly, Wilson Marques
BACKGROUND AND AIMS: X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) is an extremely rare condition associated with mutations in the PDK3 gene. To date, only three families from different countries have been reported (Australia, South Korea, and Germany). In this study, we sought to provide a comprehensive clinical and electrophysiological characterization of two Brazilian families. METHODS: We conducted comprehensive clinical assessments, extensive electrophysiological evaluations, and performed whole-exome sequencing in the probands to investigate the genetic basis of the disease...
October 17, 2023: Journal of the Peripheral Nervous System: JPNS
https://read.qxmd.com/read/37831393/identification-of-blood-metabolic-biomarkers-associated-with-diabetic-distal-symmetric-sensorimotor-polyneuropathy-in-patients-with-type-2-diabetes-mellitus
#23
Kuo-Hsuan Chang, Chiung-Mei Chen, Chia-Ni Lin, Sung-Sheng Tsai, Rong-Kuo Lyu, Chun-Che Chu, Long-Sun Ro, Ming-Feng Liao, Hong-Shiu Chang, Yi-Ching Weng, Jawl-Shan Hwang, Hung-Chou Kuo
BACKGROUND: Distal symmetric sensorimotor polyneuropathy (DSPN) is a common neurologic complication of type 2 diabetes mellitus (T2DM), but the underlying mechanisms and changes in serum metabolites remain largely undefined. This study aimed to characterize the plasma metabolite profiles of participants with T2DM using targeted metabolomics analysis and identify potential biomarkers for DSPN. METHODS: A combined liquid chromatography MS/MS and direct flow injection were used to quantify plasma metabolite obtained from 63 participants with T2DM, 81 with DSPN, and 33 nondiabetic control participants...
December 2023: Journal of the Peripheral Nervous System: JPNS
https://read.qxmd.com/read/37818123/development-of-lewis-sumner-syndrome-or-multifocal-acquired-demyelinating-sensory-and-motor-neuropathy-madsam-following-covid-19-infection
#24
Brandon L Welborn, Jeff Benjamin
Multifocal acquired demyelinating sensory and motor neuropathy (MADSAM), also known as asymmetrical or multifocal chronic inflammatory demyelinating polyneuropathy (CIDP) or Lewis-Sumner syndrome, is a painless asymmetric demyelinating sensorimotor mononeuropathy multiplex and is an atypical and rare variant of CIDP. We report a case of a 48-year-old female who presented with complaints of shortness of breath, fatigue, difficulty walking and speaking, and primarily right unilateral symptoms involving multiple peripheral nerves, the right phrenic nerve, and the facial nerve following a coronavirus disease 2019 (COVID-19) infection...
October 2023: Curēus
https://read.qxmd.com/read/37791842/tendon-sparing-extraocular-muscle-enlargement-associated-with-chronic-inflammatory-demyelinating-polyradiculoneuropathy
#25
JOURNAL ARTICLE
Antonios D Dimopoulos, Anne Barmettler
Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an inflammatory, sensorimotor polyneuropathy. It has presented with a variety of orbital and neuro-ophthalmic manifestations, including cranial nerve hypertrophy and a single case of extraocular muscle enlargement. The authors present a second case of tendon-sparing, extraocular muscle enlargement, resulting in new-onset diplopia and strabismus in a teenager with CIDP. The workup ruled out alternative causes of extraocular muscle enlargement, such as hyperthyroidism, inflammation, or malignancy...
October 4, 2023: Ophthalmic Plastic and Reconstructive Surgery
https://read.qxmd.com/read/37749855/diagnostic-value-of-nerve-conduction-study-in-notch2nlc-related-neuronal-intranuclear-inclusion-disease
#26
Yun Tian, Xuan Hou, Wanqian Cao, Lu Zhou, Bin Jiao, Sizhe Zhang, Qiao Xiao, Jin Xue, Ying Wang, Ling Weng, Liangjuan Fang, Honglan Yang, Yafang Zhou, Fang Yi, Xiaoyu Chen, Juan Du, Qian Xu, Li Feng, Zhenhua Liu, Sen Zeng, Qiying Sun, Nina Xie, Mengchuan Luo, Mengli Wang, Mengqi Zhang, Qiuming Zeng, Shunxiang Huang, Lingyan Yao, Yacen Hu, Hongyu Long, Yuanyuan Xie, Si Chen, Qing Huang, Junpu Wang, Bin Xie, Lin Zhou, Lili Long, Jifeng Guo, Junling Wang, Xinxiang Yan, Hong Jiang, Hongwei Xu, Ranhui Duan, Beisha Tang, Ruxu Zhang, Lu Shen
BACKGROUND AND AIMS: Neuronal intranuclear inclusion disease (NIID) is a rare progressive neurodegenerative disorder mainly caused by abnormally expanded GGC repeats within the NOTCH2NLC gene. Most patients with NIID show polyneuropathy. Here, we aim to investigate diagnostic electrophysiological markers of NIID. METHODS: In this retrospective dual-center study, we reviewed 96 patients with NOTCH2NLC-related NIID, 94 patients with genetically confirmed Charcot-Marie-Tooth (CMT) disease, and 62 control participants without history of peripheral neuropathy, who underwent nerve conduction studies between 2018 and 2022...
September 25, 2023: Journal of the Peripheral Nervous System: JPNS
https://read.qxmd.com/read/37723914/anti-srp-myopathy-with-sensorimotor-polyneuropathy-a-case-report
#27
JOURNAL ARTICLE
Lei-Ying Huang, Yi-Jen Peng, Yueh-Feng Sung
PURPOSE: Anti-signal recognition particle (SRP) myopathy is a subtype of immune-mediated necrotizing myopathy. It rarely presents with extramuscular features, involving the skin, lung, and heart. This paper presents a case of anti-SRP myopathy associated with sensorimotor polyneuropathy. CASE REPORT: A 33-year-old woman with no history of systemic disease presented to our hospital with weakness and numbness of the lower limbs for 1 year. Electromyography and nerve conduction study (NCS) revealed combined myopathy and axonal sensorimotor polyneuropathy...
December 30, 2023: Acta Neurologica Taiwanica
https://read.qxmd.com/read/37674422/acute-asymmetric-sensorimotor-variant-of-chronic-inflammatory-demyelinating-polyneuropathy-triggered-by-mrna-1273-covid-19-vaccination
#28
JOURNAL ARTICLE
Chang-Jie Cheng, Chien-Jung Lu
PURPOSE: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) developing in the postvaccination period was distinctly unusual and its course was rarely well described. We aimed to clearly depict the clinical features of acute-onset multifocal acquired demyelinating sensory and motor neuropathy (MADSAM) caused by mRNA-1273 COVID-19 vaccination. CASE REPORT: A 74-year-old man noticed weakness of hands 2-3 days after he accepted the second dose of mRNA-1273 COVID-19 vaccine...
September 30, 2023: Acta Neurologica Taiwanica
https://read.qxmd.com/read/37658347/peripheral-neuropathy-associated-with-chronic-lymphoproliferative-disorders-of-natural-killer-cells-clpd-nk-a-case-report-and-literature-review
#29
REVIEW
Hong An, Jiaxiang Guo, Hongliang Guo, Wenli Hu, Ming Lu
BACKGROUND: Chronic lymphoproliferative disorders of natural killer cells (CLPD-NK) is a rare lymphoproliferative disease. Peripheral neuropathy is an unusual symptom of CLPD-NK. We report a case of peripheral neuropathy associated with CLPD-NK and perform a review of literatures. CASE PRESENTATION: a 62-year-old woman presented with progressive numbness and weakness in both extremities. Electrophysiological examinations indicated a sensorimotor polyneuropathy. Peripheral blood examination revealed that the number of white blood cells (WBC) and lymphocytes were significantly increased...
September 1, 2023: BMC Neurology
https://read.qxmd.com/read/37644717/diabetic-distal-symmetric-sensorimotor-polyneuropathy-a-proposal-of-new-electrodiagnostic-evaluation
#30
JOURNAL ARTICLE
Hang Jae Lee, Dong Hwee Kim, Ki Hoon Kim
No abstract text is available yet for this article.
August 2023: Annals of Rehabilitation Medicine
https://read.qxmd.com/read/37630823/effects-of-oral-alpha-lipoic-acid-treatment-on-diabetic-polyneuropathy-a-meta-analysis-and-systematic-review
#31
REVIEW
Ruey-Yu Hsieh, I-Chen Huang, Chiehfeng Chen, Jia-Ying Sung
Alpha-lipoic acid (ALA) was found to improve the symptoms in patients with diabetic sensorimotor peripheral neuropathy (DSPN) by reducing oxidative stress and ameliorating microcirculation. Our meta-analysis is aimed at evaluating the effects of oral-administered ALA versus a placebo in patients with DSPN and determining the optimal dosage for this treatment. We systematically reviewed randomized controlled trials (RCTs) in the PubMed, Embase, and Cochrane databases to determine the efficacy of oral ALA for patients with DSPN...
August 18, 2023: Nutrients
https://read.qxmd.com/read/37555967/-neurological-manifestations-of-attr-amyloidosis
#32
REVIEW
Helena F Pernice, Katrin Hahn
Transthyretin amyloidosis (ATTR) is a rare disease in which the protein transthyretin (TTR) is deposited in the form of amyloid fibrils in various tissues and organs and secondarily leads to functional impairment, especially in peripheral nerves and the heart. A differentiation is made between hereditary and sporadic forms. The hereditary variant is inherited in an autosomal dominant manner and usually occurs in the younger to middle-aged, while the sporadic form occurs in older age and has no known genetic cause...
August 9, 2023: Inn Med (Heidelb)
https://read.qxmd.com/read/37476495/evidence-of-impaired-h-reflex-and-h-reflex-rate-dependent-depression-in-diabetes-prediabetes-and-obesity-a-mini-review
#33
REVIEW
Rebeca Kababie-Ameo, Gabriela Gutiérrez-Salmeán, Carlos A Cuellar
Diabetes Mellitus is a public health problem associated with complications such as neuropathy; however, it has been proposed that these may begin to develop during prediabetes and may also be present in persons with obesity. Diabetic peripheral neuropathy is the presence of signs and/or symptoms of peripheral nerve dysfunction in people living with diabetes, which increases the risk of developing complications and has a deleterious impact on quality of life. As part of the therapeutic protocol for diabetes, screening tests to identify peripheral neuropathy are suggested, however, there are no recommendations for people with prediabetes and obesity without symptoms such as pain, numbness, or paresthesias...
2023: Frontiers in Endocrinology
https://read.qxmd.com/read/37470302/neuropathy-in-prediabetes
#34
REVIEW
Dan Ziegler, Christian Herder, Nikolaos Papanas
Diabetic neuropathies are the most frequent complications of diabetes, contributing to high morbidity, excess mortality, reduced quality of life, and increased healthcare costs. Prediabetes is characterised by glucose levels within an intermediate range above normoglycaemia yet below the diagnostic threshold for diabetes. In 2021, 10.6% and 6.2% of adults worldwide were estimated to have impaired glucose tolerance and impaired fasting glucose, respectively, the majority of whom are unaware of having prediabetes...
July 20, 2023: Diabetes/metabolism Research and Reviews
https://read.qxmd.com/read/37449440/cardiovascular-autonomic-neuropathy-in-patients-with-type-2-diabetes-with-and-without-sensorimotor-polyneuropathy
#35
Emil Peters, Mustapha Itani, Alexander G Kristensen, Astrid Juhl Terkelsen, Thomas Krøigård, Hatice Tankisi, Troels S Jensen, Nanna B Finnerup, Sandra Sif Gylfadottir
BACKGROUND AND AIMS: Cardiovascular autonomic neuropathy (CAN) in patients with diabetes is associated with poor prognosis. We aimed to assess signs of CAN and autonomic symptoms and to investigate the impact of sensorimotor neuropathy on CAN by examining type 2 diabetes patients with (DPN [distal sensorimotor polyneuropathy]) and without distal sensorimotor polyneuropathy (noDPN) and healthy controls (HC). Secondarily, we aimed to describe the characteristics of patients with CAN. METHODS: A population of 374 subjects from a previously described cohort of the Danish Centre for Strategic Research in Type 2 Diabetes (DD2) were included...
September 2023: Journal of the Peripheral Nervous System: JPNS
https://read.qxmd.com/read/37448106/distinctive-gastrointestinal-motor-dysfunction-in-patients-with-mngie
#36
JOURNAL ARTICLE
Luis G Alcalá-González, Anna Accarino, Ramon Ramon, Daniel Sánchez-Tejerina, Arnau Llauradó, Fernando Azpiroz, Carolina Malagelada
BACKGROUND: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare mitochondrial disease caused by mutations in TYMP, encoding thymidine phosphorylase. Clinically it is characterized by severe gastrointestinal dysmotility associated with cachexia and a demyelinating sensorimotor polyneuropathy. Even though digestive manifestations are progressive and invariably lead to death, the features of gastrointestinal motor dysfunction have not been systematically evaluated. The objective of this study was to describe gastrointestinal motor dysfunction in MNGIE using state-of-the art techniques and to evaluate the relationship between motor abnormalities and symptoms...
July 13, 2023: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://read.qxmd.com/read/37400800/a-de-novo-heterozygous-variant-in-acox1-gene-cause-mitchell-syndrome-the-first-case-in-china-and-literature-review
#37
JOURNAL ARTICLE
Mengxiao Shen, Qian Chen, Yanyan Gao, Hongyu Yan, Shuo Feng, Xinna Ji, Xue Zhang
BACKGROUND: Mitchell syndrome (MITCH) is a rare autosomal dominant hereditary disorder, characterized by episodic demyelination, sensorimotor polyneuropathy and hearing loss. MITCH is caused by heterozygous mutation in the ACOX1 gene, which encodes straight-chain acyl-CoA oxidase, on chromosome 17q25.1.  Only 5 unrelated patients have been reported so far, and no reports from China. Here, we describe the first MITCH case in a Chinese individual. CASE PRESENTATION: A 7-year-old girl initially presented with diffuse desquamatory rash at age 3...
July 3, 2023: BMC Medical Genomics
https://read.qxmd.com/read/37399286/intronic-fgf14-gaa-repeat-expansions-are-a-common-cause-of-ataxia-syndromes-with-neuropathy-and-bilateral-vestibulopathy
#38
JOURNAL ARTICLE
David Pellerin, Carlo Wilke, Andreas Traschütz, Sara Nagy, Riccardo Currò, Marie-Josée Dicaire, Hector Garcia-Moreno, Mathieu Anheim, Thomas Wirth, Jennifer Faber, Dagmar Timmann, Christel Depienne, Dan Rujescu, José Gazulla, Mary M Reilly, Paola Giunti, Bernard Brais, Henry Houlden, Ludger Schöls, Michael Strupp, Andrea Cortese, Matthis Synofzik
BACKGROUND: Intronic GAA repeat expansions in the fibroblast growth factor 14 gene ( FGF14 ) have recently been identified as a common cause of ataxia with potential phenotypic overlap with RFC1 -related cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS). Our objective was to report on the frequency of intronic FGF14 GAA repeat expansions in patients with an unexplained CANVAS-like phenotype. METHODS: We recruited 45 patients negative for biallelic RFC1 repeat expansions with a combination of cerebellar ataxia plus peripheral neuropathy and/or bilateral vestibulopathy (BVP), and genotyped the FGF14 repeat locus...
June 30, 2023: Journal of Neurology, Neurosurgery, and Psychiatry
https://read.qxmd.com/read/37379343/ngly1-deficiency-a-prospective-natural-history-study-nhs
#39
JOURNAL ARTICLE
Sandra Tong, Pamela Ventola, Christina H Frater, Jenna Klotz, Jennifer M Phillips, Srikanth Muppidi, Selina S Dwight, William F Mueller, Brendan J Beahm, Matt Wilsey, Kevin J Lee
N-glycanase 1 (NGLY1) Deficiency is a debilitating, ultra-rare autosomal recessive disorder caused by loss of function of NGLY1, a cytosolic enzyme that deglycosylates other proteins. It is characterized by severe global developmental delay and/or intellectual disability, hyperkinetic movement disorder, transient elevation of transaminases, (hypo)alacrima, and progressive, diffuse, length-dependent sensorimotor polyneuropathy. A prospective natural history study (NHS) was conducted to elucidate clinical features and disease course...
June 28, 2023: Human Molecular Genetics
https://read.qxmd.com/read/37367444/case-318
#40
JOURNAL ARTICLE
Eline Van den Borre, Gert Cypers, Piet Vanhoenacker, Sven Dekeyzer
A 72-year-old man sought care for a cognitive deterioration over the past 5 years. There was a documented decline in his performance on the Mini-Mental State Examination (30 of 30 in 2016, 23 of 30 in 2021), with mainly episodic memory impairment. A more detailed history revealed a gait problem, paresthesia in both feet, and nocturnal urinary frequency. Clinical examination findings were suggestive of a length-dependent polyneuropathy. In addition, a right-sided Babinski sign was noted. Electromyography and a nerve conduction study corroborated a peripheral axonal sensorimotor neuropathy...
June 2023: Radiology
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