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amyloid neuropathies

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https://www.readbyqxmd.com/read/29423915/sensory-nerve-degeneration-in-a-mouse-model-mimicking-early-manifestations-of-familial-amyloid-polyneuropathy-due-to-transthyretin-ala97ser
#1
Hung-Wei Kan, Hao Chiang, Whei-Min Lin, I-Shing Yu, Shu-Wha Lin, Sung-Tsang Hsieh
AIMS: Sensory nerve degeneration and consequent abnormal sensations are the earliest and most prevalent manifestations of familial amyloid polyneuropathy (FAP) due to amyloidogenic transthyretin (TTR). FAP is a relentlessly progressive degenerative disease of the peripheral nervous system. However, there is a lack of mouse models to replicate the early neuropathic manifestations of FAP. METHODS: We established human TTR knock-in mice by replacing one allele of the mouse Ttr locus with human wild-type TTR (hTTRwt ) or human TTR with the A97S mutation (hTTRA97S )...
February 8, 2018: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/29401357/diagnosis-pathogenesis-and-outcome-in-leucocyte-chemotactic-factor-2-alect2-amyloidosis
#2
Tamer Rezk, Janet A Gilbertson, Dorota Rowczenio, Paul Bass, Helen J Lachmann, Ashutosh D Wechalekar, Marianna Fontana, Shameem Mahmood, Sajitha Sachchithanantham, Carol J Whelan, Jonathan Wong, Nigel Rendell, Graham W Taylor, Philip N Hawkins, Julian D Gillmore
Introduction: Renal biopsy series from North America suggest that leucocyte chemotactic factor 2 (ALECT2) amyloid is the third most common type of renal amyloid. We report the first case series from a European Centre of prevalence, clinical presentation and diagnostic findings in ALECT2 amyloidosis and report long-term patient and renal outcomes for the first time. Methods: We studied the clinical features, diagnostic investigations and the outcome of all patients with ALECT2 amyloidosis followed systematically at the UK National Amyloidosis Centre (NAC) between 1994 and 2015...
February 1, 2018: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/29383861/functional-requirement-for-human-pitrilysin-metallopeptidase-1-arginine-183-mutated-in-amyloidogenic-neuropathy
#3
Jillian E Smith-Carpenter, Benjamin J Alper
Here we report the enzymologic characterization of recombinant human pitrilysin metallopeptidase 1 (Pitrm1) and derivative mutants including the arginine-to-glutamine substitution mutant Pitrm1 R183Q, which has been implicated in inherited amyloidogenic neuropathy. Recombinant Pitrm1 R183Q was readily expressed in and purified from E. coli, but was less active than the recombinant wild-type enzyme against recombinant amyloid beta peptide (Aβ 1-40). A novel fluorogenic substrate derived from the reported Aβ 1-40 core peptide cleavage sequence, Mca-KLVFFAEDK-(Dnp)-OH, was synthesized and applied to real-time kinetic study of Pitrm1 and derivative mutants including Pitrm1 R183Q...
January 31, 2018: Protein Science: a Publication of the Protein Society
https://www.readbyqxmd.com/read/29346227/refractory-pain-management-in-amyloid-associated-peripheral-neuropathy
#4
Nafisseh S Warner, James C Watson, Markus A Bendel, Susan M Moeschler
OBJECTIVE: Systemic amyloidosis is a disease that often involves multiple organ systems, including the peripheral nervous system. Patients may present with severe, refractory neuropathic pain; however, the optimal treatment approach for pain for these patients remains unclear. CASE REPORT: A man with severe, refractory neuropathic pain in his bilateral upper and lower extremities and the trunk secondary to amyloid neuropathy is presented. Multiple medication trials, including neuropathic and opioid agents, produced considerable adverse effects and minimal relief...
January 17, 2018: Regional Anesthesia and Pain Medicine
https://www.readbyqxmd.com/read/29343286/diagnosis-and-management-of-transthyretin-familial-amyloid-polyneuropathy-in-japan-red-flag-symptom-clusters-and-treatment-algorithm
#5
REVIEW
Yoshiki Sekijima, Mitsuharu Ueda, Haruki Koike, Sonoko Misawa, Tomonori Ishii, Yukio Ando
Hereditary ATTR (ATTRm) amyloidosis (also called transthyretin-type familial amyloid polyneuropathy [ATTR-FAP]) is an autosomal-dominant, adult-onset, rare systemic disorder predominantly characterized by irreversible, progressive, and persistent peripheral nerve damage. TTR gene mutations (e.g. replacement of valine with methionine at position 30 [Val30Met (p.Val50Met)]) lead to destabilization and dissociation of TTR tetramers into variant TTR monomers, which form amyloid fibrils that deposit in peripheral nerves and various organs, giving rise to peripheral and autonomic neuropathy and several non-disease specific symptoms...
January 17, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29283951/knee-arthrodesis-in-a-patient-with-charcot-neuroarthropathy-secondary-to-familial-amyloid-polyneuropathy-a-case-report
#6
Tiago Rebelo, João Morais, Francisco Agostinho, Ana Abrantes, Nuno Simões, Inês Simões
CASE: We report a rare case of severe Charcot neuroarthropathy of the knee secondary to familial amyloid polyneuropathy, which was treated surgically with a knee arthrodesis. This treatment allowed an early symptomatic and functional improvement and a short consolidation time without any major complications. CONCLUSION: Neuropathy is the earliest and most major burden in patients with familial amyloid polyneuropathy; it requires careful evaluation and adequate treatment aimed at preventing or slowing the progression of secondary damage, involving Charcot neuroarthropathy, that may occur...
October 2017: JBJS Case Connector
https://www.readbyqxmd.com/read/29280898/knee-arthrodesis-in-a-patient-with-charcot-neuroarthropathy-secondary-to-familial-amyloid-polyneuropathy-a-case-report
#7
Tiago Rebelo, João Morais, Francisco Agostinho, Ana Abrantes, Nuno Simões, Inês Simões
CASE: We report a rare case of severe Charcot neuroarthropathy of the knee secondary to familial amyloid polyneuropathy, which was treated surgically with a knee arthrodesis. This treatment allowed an early symptomatic and functional improvement and a short consolidation time without any major complications. CONCLUSION: Neuropathy is the earliest and most major burden in patients with familial amyloid polyneuropathy; it requires careful evaluation and adequate treatment aimed at preventing or slowing the progression of secondary damage, involving Charcot neuroarthropathy, that may occur...
December 27, 2017: JBJS Case Connector
https://www.readbyqxmd.com/read/29277593/oculoleptomeningeal-amyloidosis-secondary-to-the-rare-transthyretin-c-381t-g-p-ile127met-mutation
#8
Francois Mathieu, Erin Morgan, Joyce So, David G Munoz, Warren Mason, Paul Kongkham
BACKGROUND: Oculoleptomeningeal amyloidosis (OLMA) represents a rare subtype of familial transthyretin (TTR) amyloidosis, characterized by deposition of amyloid in cranial and spinal leptomeninges along with ocular involvement. Of more than 100 TTR mutations identified, few have been associated with OLMA. Herein we describe the first report of leptomeningeal amyloidosis associated with the c.381T>G (p.Ile127Met) TTR mutation, linking this variant in the OLMA phenotype. CASE DESCRIPTION: A 53 year-old male presented with a 2-year history of progressive symptoms including upper and lower limb weakness, ataxia, peripheral and autonomic neuropathy...
December 22, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29249054/transthyretin-familial-amyloid-polyneuropathy-an-update
#9
Violaine Plante-Bordeneuve
Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a progressive, fatal, inherited disorder first identified in Portugal and now recognized in all continents. Over the past decade, thanks to the availability of the genetic test, our knowledge on the range of clinical expressions of this disorder has expanded, including different patterns and progression rates of the neuropathy, as well as aspects of the cardiomyopathy, which can be prominent. In the mean time, new tools are being developed to detect earlier TTR amyloid deposition such as cardiac scintigraphy with technetium-labelled pyrophosphate tracers or small nerve fiber alterations from skin biopsies, or using neurophysiological approaches as well as magnetic resonance neurography (MRN)...
December 16, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/29246775/coronary-ectasia-in-amyloid-cardiomyopathy-and-neuropathy-due-to-the-transthyretin-mutation-c-323a-g
#10
Josef Finsterer, Claudia Stöllberger, Helmut Rauschka, Edmund Gatterer
BACKGROUND: atrial fibrillation(AF) is a frequent manifestation of cardiac involvement in genetic and wild-type transthyretin-related familial amyloidosis(TTR-FA). However, ectasia of coronary arteries and ablation for AF have not been reported in TTR-FA. METHODS AND RESULTS: A 65yo male developed progressive sensori-motor polyneuropathy since age 59y. At age 60y bifascicular block and myocardial thickening were recognised. At age 62y heart failure developed and work-up with cardiac MRI suggested amyloidosis but biopsy was non-informative...
December 12, 2017: Heart & Lung: the Journal of Critical Care
https://www.readbyqxmd.com/read/29238071/app-upregulation-contributes-to-retinal-ganglion-cell-degeneration-via-jnk3
#11
Chao Liu, Cheng-Wu Zhang, Yi Zhou, Wan Qing Wong, Liying Corinne Lee, Wei Yi Ong, Sung Ok Yoon, Wanjin Hong, Xin-Yuan Fu, Tuck Wah Soong, Edward H Koo, Lawrence W Stanton, Kah-Leong Lim, Zhi-Cheng Xiao, Gavin S Dawe
Axonal injury is a common feature of central nervous system insults. Upregulation of amyloid precursor protein (APP) is observed following central nervous system neurotrauma and is regarded as a marker of central nervous system axonal injury. However, the underlying mechanism by which APP mediates neuronal death remains to be elucidated. Here, we used mouse optic nerve axotomy (ONA) to model central nervous system axonal injury replicating aspects of retinal ganglion cell (RGC) death in optic neuropathies. APP and APP intracellular domain (AICD) were upregulated in retina after ONA and APP knockout reduced Tuj1+ RGC loss...
December 13, 2017: Cell Death and Differentiation
https://www.readbyqxmd.com/read/29171411/beta-secretase-activity-in-peripheral-nerve-regeneration
#12
REVIEW
Carolyn Tallon, Mohamed H Farah
While the peripheral nervous system has the capacity to regenerate following a nerve injury, it is often at a slow rate and results in unsatisfactory recovery, leaving patients with reduced function. Many regeneration associated genes have been identified over the years, which may shed some insight into how we can manipulate this intrinsic regenerative ability to enhance repair following peripheral nerve injuries. Our lab has identified the membrane bound protease beta-site amyloid precursor protein-cleaving enzyme 1 (BACE1), or beta secretase, as a potential negative regulator of peripheral nerve regeneration...
October 2017: Neural Regeneration Research
https://www.readbyqxmd.com/read/29155576/chronic-arsenic-exposure-increases-a%C3%AE-1-42-production-and-rage-expression-in-rat-brain
#13
Sandra Aurora Niño, Guadalupe Martel-Gallegos, Adriana Castro-Zavala, Benita Ortega-Berlanga, Juan Manuel Delgado, Hector Hernandez-Mendoza, E Romero-Guzman, Judith Rios-Lugo, Sergio Rosales-Mendoza, María Esther Jiménez-Capdeville, Sergio Zarazua
Chronic arsenic exposure during development is associated with alterations of chemical transmission and demyelination, which result in cognitive deficits and peripheral neuropathies. At cellular level, arsenic toxicity involves increased generation of reactive species that induce severe cellular alterations such as DNA fragmentation, apoptosis and lipid peroxidation. It has been proposed that arsenic-associated neurodegeneration could evolve to Alzheimer disease in later life.1,2 In this study, the effects of chronic exposure to inorganic arsenic (3 ppm by drinking water) in Wistar rats on the production and elimination of Amyloid-β (Aβ) were evaluated...
November 20, 2017: Chemical Research in Toxicology
https://www.readbyqxmd.com/read/29115008/tafamidis-delays-neurologic-progression-comparably-across-val30met-and-non-val30met-genotypes-in-transthyretin-familial-amyloid-polyneuropathy
#14
Balarama K Gundapaneni, Marla B Sultan, Denis J Keohane, Jeffrey H Schwartz
BACKGROUND: To better characterize the effects of tafamidis in non-Val30Met patients with transthyretin familial amyloid polyneuropathy, this post-hoc analysis compared the neurologic results from a 12-month, open-label study of non-Val30Met vs. Val30Met patients at Month 12 from the 18-month, double-blind, placebo-controlled registration study. A baseline covariate adjusted analysis was used to control for differences in baseline neurologic severity. METHODS: Neurologic function was assessed using the Neuropathy Impairment Score-Lower Limbs (NIS-LL) in three cohorts: Val30Met tafamidis (n = 64), Val30Met placebo (n = 61) and non-Val30Met tafamidis (n = 21)...
November 8, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29052096/life-paths-of-patients-with-transthyretin-related-familial-amyloid-polyneuropathy-val30met-a-descriptive-study
#15
Alice Lopes, Alexandra Sousa, Isabel Fonseca, Margarida Branco, Carla Rodrigues, Teresa Coelho, Jorge Sequeiros, Paula Freitas
Transthyretin-related familial amyloid polyneuropathy Val30Met is a fatal progressive disease. It is a rare hereditary amyloidosis, manifesting as a sensorimotor neuropathy and autonomic dysfunction. It begins during adulthood and is a disabling disease, posing a great psychological burden to patients and their families. Our aim was to describe and characterize life events related to the disease and discuss its psychosocial implications. Social and demographic data and a questionnaire on history of family and personal disease, and biographic events, were applied to 209 subjects attending an outpatient specialized clinic...
October 19, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/29050191/-the-ocular-involvement-in-the-transthyretin-related-familial-amyloid-polyneuropathy
#16
H Y Lin, R P Dai
Transthyretin (TTR)-related familial amyloid polyneuropathy (FAP), which is caused by mutant TTR, is a rare but fatal autosomal dominant disease. TTR is synthesized by the liver (95%) , the choroid plexus of the brain and the retinal pigment epithelium. FAP leads to peripheral neuropathy, and the main ocular manifestations are vitreous opacity (yellowish cotton-like), secondary glaucoma and keratoconjunctivitis sicca. Liver transplantation has proven to be the most effective treatment for TTR-FAP. Nowadays, tafamidis is the only drug approved for TTR-FAP (early stage)...
October 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/28991715/clinical-and-pathological-findings-in-familial-amyloid-polyneuropathy-caused-by-a-transthyretin-e61k-mutation
#17
Tatsufumi Murakami, Hirotake Nishimura, Taiji Nagai, Shoji Hemmi, Yumiko Kutoku, Yutaka Ohsawa, Yoshihide Sunada
Familial amyloid polyneuropathy (FAP) is an autosomal dominant hereditary systemic amyloidosis caused by mutation of the transthyretin (TTR) gene, and usually shows sensory-dominant polyneuropathy and autonomic neuropathy at the initial stage. The pathogenesis of this neuropathy remains unknown, although several mechanisms, including mechanical compression, vessel occlusion, TTR toxicity and Schwann cell dysfunction have been proposed. We describe a patient with late-onset FAP caused by a TTR E61K mutation...
October 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28963698/hereditary-lysozyme-amyloidosis-with-sicca-syndrome-digestive-arterial-and-tracheobronchial-involvement-case-based-review
#18
REVIEW
Audrey Benyamine, Fanny Bernard-Guervilly, Céline Tummino, Nicolas Macagno, Laurent Daniel, Sophie Valleix, Brigitte Granel
Lysozyme amyloidosis (ALys) is a rare autosomal dominant hereditary systemic amyloidosis associated with a large spectrum of clinical manifestations. ALys phenotype mainly involves the digestive tract, liver and spleen, kidneys, lymph nodes, skin, and lachrymal and salivary glands. Very recently, cardiac involvement and peripheral neuropathy associated with a new p.Leu102Ser variant of lysozyme have been documented. In the present observation, we extend the phenotypic heterogeneity of ALys to the tracheobronchial tree with histologically proven bronchial ALys-amyloid deposits...
November 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28957343/a-prospective-observational-study-of-patients-with-uncommon-distal-symmetric-painful-small-fiber-neuropathy
#19
Jung-Lung Hsu, Ming-Feng Liao, Hui-Ching Hsu, Yi-Ching Weng, Ai-Lun Lo, Kuo-Hsuan Chang, Hong-Shiu Chang, Hung-Chou Kuo, Chin-Chang Huang, Long-Sun Ro
OBJECTIVE: To investigate the clinical characteristics of patients with uncommon distal symmetric painful small-fiber neuropathy (DSPSFN). METHODS: From September 2012 to September 2014, participants between 18-70 years of age that had DSPSFN defined by clinical signs/symptoms and ID pain > 2 or DN4 > 4 on questionnaires for more than 1 month were included. Participants who had previous historical or laboratory evidence of common etiologies of DSPSFN were excluded...
2017: PloS One
https://www.readbyqxmd.com/read/28955941/genetic-background-modifies-amyloidosis-in-a-mouse-model-of-attr-neuropathy
#20
E Panayiotou, R Papacharalambous, A Antoniou, G Christophides, L Papageorgiou, E Fella, S Malas, T Kyriakides
Penetrance and age of onset of ATTRV30M amyloidotic neuropathy varies significantly among different populations. This variability has been attributed to both genetic and environmental modifiers. We studied the effect of genetic background on phenotype in two lines of transgenic mice bearing the same ATTRV30M transgene. Amyloid deposition, transthyretin (TTR), megalin, clusterin and disease markers of endoplasmic reticulum stress, the ubiquitin-proteasome system, apoptosis, and complement activation were assessed with WB and immunohistochemistry in donor and recipient tissue...
December 2016: Biochemistry and Biophysics Reports
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