Read by QxMD icon Read

amyloid neuropathies

Gavin A McKenzie, Stephen M Broski, Benjamin M Howe, Robert J Spinner, Kimberly K Amrami, Angela Dispenzieri, Michael D Ringler
OBJECTIVE: To highlight the MRI characteristics of pathologically proven amyloidosis involving the peripheral nervous system (PNS) and determine the utility of MRI in directing targeted biopsy for aiding diagnosis. MATERIALS AND METHODS: A retrospective study was performed for patients with pathologically proven PNS amyloidosis who also underwent MRI of the biopsied or excised nerve. MRI signal characteristics, nerve morphology, associated muscular denervation changes, and the presence of multifocal involvement were detailed...
October 12, 2016: Skeletal Radiology
Timothy E Audas, Danielle E Audas, Mathieu D Jacob, J J David Ho, Mireille Khacho, Miling Wang, J Kishan Perera, Caroline Gardiner, Clay A Bennett, Trajen Head, Oleksandr N Kryvenko, Mercé Jorda, Sylvia Daunert, Arun Malhotra, Laura Trinkle-Mulcahy, Mark L Gonzalgo, Stephen Lee
The amyloid state of protein organization is typically associated with debilitating human neuropathies and is seldom observed in physiology. Here, we uncover a systemic program that leverages the amyloidogenic propensity of proteins to regulate cell adaptation to stressors. On stimulus, cells assemble the amyloid bodies (A-bodies), nuclear foci containing heterogeneous proteins with amyloid-like biophysical properties. A discrete peptidic sequence, termed the amyloid-converting motif (ACM), is capable of targeting proteins to the A-bodies by interacting with ribosomal intergenic noncoding RNA (rIGSRNA)...
October 4, 2016: Developmental Cell
Ana Rocha, Luísa Lobato
Orthotopic liver transplantation (LT) was implemented as the inaugural disease-modifying therapy for hereditary transthyretin (ATTR) amyloidosis, a systemic amyloidosis mainly affecting the peripheral nervous system and heart. The first approach to pharmacologic therapy was focused on the stabilization of the TTR tetramer; following that new advent LT was assumed as the second step of treatment, for those patients whose neuropathy becomes worse after a course of pharmacologic therapy. The renal disease has been ignored in hereditary ATTR amyloidosis...
September 14, 2016: Transplantation Reviews
D Adams, G Beaudonnet, C Adam, C Lacroix, M Théaudin, C Cauquil, C Labeyrie
Transthyretin familial amyloid polyneuropathy (FAP) is a rare disease with autosomal transmission due to point mutation of the transthyretin (TTR) gene. It is the most disabling hereditary neuropathy affecting sensory, motor and autonomic nerves, and is irreversible and fatal within 7 to 12 years of onset in the absence of therapy. Diagnosis is usually delayed for 1-5 years because the onset is usually insidious, and a positive family history is lacking in 50% of late-onset cases. Penetrance is variable, and depends of the age of the carrier and age of onset in family members...
October 2016: Revue Neurologique
Nan-Qu Huang, Hai Jin, Shao-Yu Zhou, Jing-Shan Shi, Feng Jin
Recently, more and more studies have shown that there is an essential link between diabetes mellitus (DM) and Alzheimer's disease (AD). In addition, innate immunity plays an important role in the occurrence and development of DM and AD, which increase the risk of developing type 2 diabetes (T2D) and AD. Although the pathogenesis of those diseases is still a matter of debate, the important role of Toll-like receptor 4 (TLR4) in the two diseases has been receiving much attention at present. TLR4 and insulin resistance do have close ties, and chronic TLR4 activation may contribute to the insulin resistance...
January 1, 2017: Behavioural Brain Research
Catarina S H Jesus, Zaida L Almeida, Daniela C Vaz, Tiago Q Faria, Rui M M Brito
Protein aggregation into insoluble amyloid fibrils is the hallmark of several neurodegenerative diseases, chief among them Alzheimer's and Parkinson's. Although caused by different proteins, these pathologies share some basic molecular mechanisms with familial amyloidotic polyneuropathy (FAP), a rare hereditary neuropathy caused by amyloid formation and deposition by transthyretin (TTR) in the peripheral and autonomic nervous systems. Among the amyloidogenic TTR mutations known, V30M-TTR is the most common in FAP...
2016: International Journal of Molecular Sciences
Michaela Auer-Grumbach, Stefan Toegel, Maria Schabhüttl, Daniela Weinmann, Catharina Chiari, David L H Bennett, Christian Beetz, Dennis Klein, Peter M Andersen, Ilka Böhme, Regina Fink-Puches, Michael Gonzalez, Matthew B Harms, William Motley, Mary M Reilly, Wilfried Renner, Sabine Rudnik-Schöneborn, Beate Schlotter-Weigel, Andreas C Themistocleous, Jochen H Weishaupt, Albert C Ludolph, Thomas Wieland, Feifei Tao, Lisa Abreu, Reinhard Windhager, Manuela Zitzelsberger, Tim M Strom, Thomas Walther, Steven S Scherer, Stephan Züchner, Rudolf Martini, Jan Senderek
Axonal polyneuropathies are a frequent cause of progressive disability in the elderly. Common etiologies comprise diabetes mellitus, paraproteinaemia, and inflammatory disorders, but often the underlying causes remain elusive. Late-onset axonal Charcot-Marie-Tooth neuropathy (CMT2) is an autosomal-dominantly inherited condition that manifests in the second half of life and is genetically largely unexplained. We assumed age-dependent penetrance of mutations in a so far unknown gene causing late-onset CMT2. We screened 51 index case subjects with late-onset CMT2 for mutations by whole-exome (WES) and Sanger sequencing and subsequently queried WES repositories for further case subjects carrying mutations in the identified candidate gene...
September 1, 2016: American Journal of Human Genetics
Sunil M Kurian, Marta Novais, Thomas Whisenant, Terri Gelbart, Joel N Buxbaum, Jeffery W Kelly, Teresa Coelho, Daniel R Salomon
BACKGROUND: Early diagnosis of familial transthyretin (TTR) amyloid diseases remains challenging because of variable disease penetrance. Currently, patients must have an amyloid positive tissue biopsy to be eligible for disease-modifying therapies. Endomyocardial biopsies are typically amyloid positive when cardiomyopathy is suspected, but this disease manifestation is generally diagnosed late. Early diagnosis is often difficult because patients exhibit apparent symptoms of polyneuropathy, but have a negative amyloid biopsy...
2016: Theranostics
Morie A Gertz
DISEASE OVERVIEW: Immunoglobulin light chain amyloidosis is a clonal, nonproliferative plasma cell disorder in which fragments of immunoglobulin light chain are deposited in tissues. Clinical features depend on organs involved but can include restrictive cardiomyopathy, nephrotic syndrome, hepatic failure, peripheral/autonomic neuropathy, and atypical multiple myeloma. DIAGNOSIS: Tissue biopsy stained with Congo red demonstrating amyloid deposits with applegreen birefringence is required for diagnosis...
September 2016: American Journal of Hematology
Yasutoshi Kido, Masao Takahashi, Nobuaki Fukuma, Takayuki Kawata, Atsushi Tanaka, Akimasa Hayashi, Junji Shibahara, Masao Daimon, Hiroyuki Morita, Hiroshi Akazawa, Issei Komuro
The main clinical manifestations of wild-type transthyretin (TTR)-related amyloidosis are progressive heart failure and neuropathy. There have been some reports on cerebral hemorrhage due to cerebral amyloid angiopathy in patients with TTR-related amyloidosis, but little is known about the vascular involvement in other organs. A 77-year-old woman experienced heart failure and was admitted for deteriorating heart failure status. Echocardiography showed diffuse hypokinesis of the left ventricle with biventricular wall thickness...
August 13, 2016: Cardiology
Márcia Waddington Cruz, Leslie Amass, Denis Keohane, Jeffrey Schwartz, Huihua Li, Balarama Gundapaneni
: Transthyretin hereditary amyloid polyneuropathy, also traditionally known as transthyretin familial amyloid polyneuropathy (ATTR-FAP), is a rare, relentless, fatal hereditary disorder. Tafamidis, an oral, non-NSAID, highly specific transthyretin stabilizer, demonstrated safety and efficacy in slowing neuropathy progression in early-stage ATTRV30M-FAP in a 1.5-year, randomized, double-blind, placebo-controlled trial, and 1-year open-label extension study, with a second long-term open-label extension study ongoing...
August 5, 2016: Amyloid: the International Journal of Experimental and Clinical Investigation
Jennifer A Smith, Barbara S Slusher, Krystyna M Wozniak, Mohamed H Farah, Gregoriy Smiyun, Leslie Wilson, Stuart Feinstein, Mary Ann Jordan
Peripheral neuropathy is a serious, dose-limiting side effect of cancer treatment with microtubule-targeting drugs. Symptoms present in a "stocking-glove" distribution, with longest nerves affected most acutely, suggesting a length-dependent component to the toxicity. Axonal transport of ATP-producing mitochondria along neuronal microtubules from cell body to synapse is crucial to neuronal function. We compared the effects of the drugs paclitaxel and ixabepilone that bind along the lengths of microtubules and the drugs eribulin and vincristine that bind at microtubule ends, on mitochondrial trafficking in cultured human neuronal SK-N-SH cells and on axonal transport in mouse sciatic nerves...
September 1, 2016: Cancer Research
Teresa Coelho, Aaron Vinik, Etta J Vinik, Tara Tripp, Jeff Packman, Donna R Grogan
INTRODUCTION: This observational, cross-sectional, single-center study aimed to identify instruments capable of measuring disease progression in transthyretin familial amyloid polyneuropathy (TTR-FAP). METHODS: The relationship between disease stage and Neuropathy Impairment Score-Lower Limbs (NIS-LL) and Norfolk Quality of Life-Diabetic Neuropathy (Norfolk QOLDN) total score was assessed in 61 (stage 1-stage 3) patients with TTR-FAP (V30M variant) and 16 healthy controls...
July 16, 2016: Muscle & Nerve
Adam J Loavenbruck, Wolfgang Singer, Michelle L Mauermann, Paola Sandroni, P James B Dyck, Morie Gertz, Christopher J Klein, Phillip A Low
OBJECTIVE: To systematically compare transthyretin with primary amyloid neuropathy to define their natural history and the underlying mechanisms for differences in phenotype and natural history. METHODS: All patients with defined amyloid subtype and peripheral neuropathy who completed autonomic testing and electromyography at Mayo Clinic Rochester between 1993 and 2013 were included. Medical records were reviewed for time of onset of defined clinical features. The degree of autonomic impairment was quantified using the composite autonomic severity scale...
September 2016: Annals of Neurology
Frauke Seehusen, Kirsten Kiel, Stefano Jottini, Peter Wohlsein, Andre Habierski, Katharina Seibel, Tanja Vogel, Henning Urlaub, Martin Kollmar, Wolfgang Baumgärtner, Ulrike Teichmann
Dystonia musculorum is a neurodegenerative disorder caused by a mutation in the dystonin gene. It has been described in mice and humans where it is called hereditary sensory autonomic neuropathy. Mutated mice show severe movement disorders and die at the age of 3-4 weeks. This study describes the discovery and molecular, clinical, as well as pathological characterization of a new spontaneously occurring mutation in the dystonin gene in C57BL/6N mice. The mutation represents a 40-kb intragenic deletion allele of the dystonin gene on chromosome 1 with exactly defined deletion borders...
September 2016: Genetics
Antoine Rousseau, Cecile Cauquil, Benedicte Dupas, Antoine Labbé, Christophe Baudouin, Emmanuel Barreau, Marie Théaudin, Catherine Lacroix, Anne Guiochon-Mantel, Anouar Benmalek, Marc Labetoulle, David Adams
IMPORTANCE: Small fiber neuropathy (SFN) is an important feature of transthyretin familial amyloid polyneuropathy (TTR-FAP). A practical and objective method for the clinical evaluation of SFN is needed to improve the management of this disease. In vivo confocal microscopy (IVCM) of the corneal nerves, a rapid noninvasive technique, may be used as a surrogate marker of SFN. OBJECTIVE: To determine the correlation of SFN with IVCM in patients with TTR-FAP. DESIGN, SETTING, AND PARTICIPANTS: A prospective, single-center, cross-sectional controlled study was conducted at the French National Reference Center for TTR-FAP from June 1, 2013, to June 30, 2014...
September 1, 2016: JAMA Ophthalmology
María Gallego-Delgado, Esther González-López, Francisco Muñoz-Beamud, Juan Buades, Lucía Galán, Jose Luis Muñoz-Blanco, Javier Sánchez-González, Borja Ibáñez, Jesus G Mirelis, Pablo García-Pavía
INTRODUCTION AND OBJECTIVES: Cardiac involvement determines prognosis and treatment options in transthyretin-familial amyloidosis. Cardiac magnetic resonance T1 mapping techniques are useful to assess myocardial extracellular volume. This study hypothesized that myocardial extracellular volume allows identification of amyloidotic cardiomyopathy and correlates with the degree of neurological impairment in transthyretin-familial amyloidosis. METHODS: A total of 31 transthyretin-familial amyloidosis patients (19 mean age, 49 ± 12 years; 26 with the Val30Met mutation) underwent a T1 mapping cardiac magnetic resonance study and a neurological evaluation with Neuropathy Impairment Score of the Lower Limb score, Norfolk Quality of Life questionnaire, and Karnofsky index...
June 9, 2016: Revista Española de Cardiología
Mona Karout, Michel Miesch, Philippe Geoffroy, Stephanie Kraft, Hans-Dieter Hofmann, Ayikoe-Guy Mensah-Nyagan, Matthias Kirsch
The natural neurosteroid allopregnanolone exerts beneficial effects in animal models of neurodegenerative diseases, nervous system injury and peripheral neuropathies. It has anti-apoptotic activity but also promotes proliferation of progenitor cells. With respect to using it as a therapeutic tool, such pleiotropic actions might create unwanted side effects. Therefore, we have synthesized allopregnanolone analogs and analyzed their neuroprotective and proliferative effects to identify compounds with higher efficiency and less ambiguous biological actions...
June 3, 2016: Journal of Neurochemistry
Yufuko Saito, Kenichi Sakai, Masaaki Konagaya
AIM: Subacute myelo-optico-neuropathy (SMON) is a known adverse effect of clioquinol use; however, clioquinol dissolves beta-amyloid aggregation in Alzheimer's disease (AD). Therefore, we investigated the prevalence of dementia in SMON patients and whether past clioquinol use affected the current incidence of AD. METHODS: We included 647 SMON patients (195 men, 452 women; mean age 77.9 years) who had undergone medical checkups including the mini-mental state examination (MMSE) in 2012...
2016: Nihon Ronen Igakkai Zasshi. Japanese Journal of Geriatrics
Arash Babaei-Ghazani, Bina Eftekharsadat
Familial amyloid polyneuropathy (FAP) type IV (FINNISH) is a rare clinical entity with challenging neuropathy and cosmetic deficits. Amyloidosis can affect peripheral sensory, motor, or autonomic nerves. Nerve lesions are induced by deposits of amyloid fibrils and treatment approaches for neuropathy are challenging. Involvement of cranial nerves and atrophy in facial muscles is a real concern in daily life of such patients. Currently, diagnosis of neuropathy can be made by electrodiagnostic studies and diagnosis of amyloidosis can be made by genetic testing or by detection of amyloid deposition in abdominal fat pad, rectal, or nerve biopsies...
May 2016: Iranian Journal of Medical Sciences
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

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"