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https://www.readbyqxmd.com/read/29611130/understanding-the-disease-course-and-therapeutic-benefit-of-tafamidis-across-real-world-studies-of-hereditary-transthyretin-amyloidosis-with-polyneuropathy-a-proof-of-concept-for-integrative-data-analytic-approaches
#1
Daniel Serrano, Christopher B Atzinger, Marc F Botteman
INTRODUCTION: Hereditary transthyretin (TTR) amyloidosis with polyneuropathy (hATTR-PN) is a rare, autosomal dominant amyloidosis characterized primarily by progressive ascending sensorimotor neuropathy often associated with  autonomic involvement. hATTR-PN is caused by a mutation in the TTR gene leading to protein misfolding and amyloid accumulation in peripheral nerves and vital organs. The latest global prevalence estimates point to 10,000 cases worldwide, with an upper end of about 40,000...
April 2, 2018: Neurology and Therapy
https://www.readbyqxmd.com/read/29568686/transthyretin-familial-amyloid-polyneuropathy-ttr-fap-parameters-for-early-diagnosis
#2
Fabiola Escolano-Lozano, Ana Paula Barreiros, Frank Birklein, Christian Geber
Background: Familial transthyretin amyloidosis is a life-threatening disease presenting with sensorimotor and autonomic polyneuropathy. Delayed diagnosis has a detrimental effect on treatment and prognosis. To facilitate diagnosis, we analyzed data patterns of patients with transthyretin familial amyloid polyneuropathy (TTR-FAP) and compared them to polyneuropathies of different etiology for clinical and electrophysiological discriminators. Methods: Twenty-four patients with TTR-FAP and 48 patients with diabetic polyneuropathy (dPNP) were investigated (neurological impairment score NIS; neurological disability score NDS) in a cross-sectional design...
January 2018: Brain and Behavior
https://www.readbyqxmd.com/read/29544239/-transthyretin-familial-amyloid-polyneuropathy-disease-profile-of-a-multisystem-disorder
#3
Christoph Niemietz, Christoph Röcken, Matthias Schilling, Jörg Stypman, Constantin E Uhlig, Hartmut H-J Schmidt
Transthyretin-related Familial Amyloid Polyneuropathy (ATTR Amyloidosis, former FAP, here called TTR-FAP) is a rare, progressive autosomal dominant inherited amyloid disease ending fatal within 5 - 15 years after final diagnosis. TTR-FAP is caused by mutations of transthyretin (TTR), which forms amyloid fibrils affecting peripheral and autonomic nerves, the heart and other organs. Due to the phenotypic heterogeneity and partly not specific enough clinical symptoms, diagnosis of TTR-FAP can be complicated...
March 2018: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/29524093/single-centre-experience-on-transthyretin-familial-amyloid-polyneuropathy-case-series-and-literature-review
#4
REVIEW
Broes Martens, Michel De Pauw, Jan L De Bleecker
Familial amyloid polyneuropathy (FAP) is a most often length-dependent axonal neuropathy, often part of a multisystem disorder also affecting other organs, such as cardiac, gastrointestinal, genitourinary, renal, meningeal and eye tissue. It is most frequently the result of a mutation in the TTR gene, most commonly a p.Val50Met mutation. TTR-FAP is a rare autosomal dominant heritable disabling, heterogeneous disease in which early diagnosis is of pivotal importance when attempting treatment. This paper discusses the course of four Belgian FAP patients with different TTR mutations (p...
March 9, 2018: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/29511897/autonomic-involvement-in-hereditary-transthyretin-amyloidosis-hattr-amyloidosis
#5
REVIEW
Alejandra Gonzalez-Duarte
PURPOSE: Hereditary transthyretin amyloidosis (hATTR amyloidosis) is a progressive disease primarily characterized by adult-onset sensory, motor, and autonomic neuropathy. In this article, we discuss the pathophysiology and principal findings of autonomic neuropathy in hATTR amyloidosis, the most common methods of assessment and progression, and its relation as a predictive risk factor or a measure of progression in the natural history of the disease. METHODS: A literature search was performed using the terms "autonomic neuropathy," "dysautonomia," and "autonomic symptoms" in patients with hereditary transthyretin amyloidosis and familial amyloid polyneuropathy...
March 6, 2018: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
https://www.readbyqxmd.com/read/29478606/neuropathy
#6
Chiara Pisciotta, Michael E Shy
The genetic neuropathies are a clinically and genetically heterogeneous group of diseases that can broadly be classified into two groups: those in which the neuropathy is the sole or primary part of the disorder (Charcot-Marie-Tooth disease, CMT) and those in which the neuropathy is part of a more generalized neurologic or multisystem disorder (e.g., familial amyloid polyneuropathy, neuropathies associated with mitochondrial diseases, with hereditary ataxias, porphyrias). The former is the most common group, with a prevalence of 1 in 2500 people, and this chapter will concentrate on CMT...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29423915/sensory-nerve-degeneration-in-a-mouse-model-mimicking-early-manifestations-of-familial-amyloid-polyneuropathy-due-to-transthyretin-ala97ser
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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 >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 to the OLMA phenotype. CASE DESCRIPTION: A 53 year-old man presented with a 2-year history of progressive symptoms including upper and lower limb weakness, ataxia, and peripheral and autonomic neuropathy...
March 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29249054/transthyretin-familial-amyloid-polyneuropathy-an-update
#15
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
#16
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...
March 2018: Heart & Lung: the Journal of Critical Care
https://www.readbyqxmd.com/read/29238071/app-upregulation-contributes-to-retinal-ganglion-cell-degeneration-via-jnk3
#17
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...
March 2018: Cell Death and Differentiation
https://www.readbyqxmd.com/read/29171411/beta-secretase-activity-in-peripheral-nerve-regeneration
#18
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-receptor-for-advanced-glycation-end-products-expression-in-rat-brain
#19
Sandra Aurora Niño, Guadalupe Martel-Gallegos, Adriana Castro-Zavala, Benita Ortega-Berlanga, Juan Manuel Delgado, Héctor Hernández-Mendoza, Elizabeth Romero-Guzmán, Judith Ríos-Lugo, Sergio Rosales-Mendoza, María E Jiménez-Capdeville, Sergio Zarazúa
Chronic arsenic exposure during development is associated with alterations of chemical transmission and demyelination, which result in cognitive deficits and peripheral neuropathies. At the 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...
January 16, 2018: Chemical Research in Toxicology
https://www.readbyqxmd.com/read/29115008/tafamidis-delays-neurological-progression-comparably-across-val30met-and-non-val30met-genotypes-in-transthyretin-familial-amyloid-polyneuropathy
#20
B K Gundapaneni, M B Sultan, D J Keohane, J H Schwartz
BACKGROUND AND PURPOSE: To better characterize the effects of tafamidis in non-Val30Met patients with transthyretin familial amyloid polyneuropathy, this post hoc analysis compared the neurological results from a 12-month, open-label study of non-Val30Met versus 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 neurological severity. METHODS: Neurological 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)...
March 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
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