keyword
MENU ▼
Read by QxMD icon Read
search

familial amyloid polyneuropathy

keyword
https://www.readbyqxmd.com/read/29779881/failure-of-tafamidis-to-halt-progression-of-ala36pro-ttr-oculomeningovascular-amyloidosis
#1
Fabrizio Salvi, Roberto Volpe, Francesca Pastorelli, Andrea Bianchi, Alessandra Vella, Claudio Rapezzi, Mario Mascalchi
Oculomeningovascular amyloidosis is a variant of transthyretin (TTR) amyloidotic polyneuropathy, which is associated with blindness and brain ischemia, microhemorrages, and siderosis due to prominent production of the abnormal TTR in the eye and in the choroid plexuses. Tafamidis is a TTR stabilizer that is orally administered and, by interfering with amyloid fibril formation and deposition, is capable of slowing progression of TTR polyneuropathy and of early-stage cardiomyopathy. However, the ocular manifestations of amyloid deposition progressed despite tafamidis therapy in Val30Met TTR amyloidosis, and the effects of tafamidis on meningovascular amyloidosis are unknown...
May 17, 2018: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/29660739/-transthyretin-familial-amyloid-polyneuropathy-disease-profile-of-a-multisystem-disorder
#2
Christoph Niemietz, Christoph Röcken, Matthias Schilling, Jörg Stypmann, Constantin E Uhlig, Hartmut H-J Schmidt
No abstract text is available yet for this article.
March 2018: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/29607936/characterization-of-non-amyloidogenic-g101s-transthyretin
#3
Yuriko Wakita, Takashi Sato, Keisuke Chosa, Mary Ann Suico, Ryoko Sasaki, Shingo Kawano, Nami Hashimoto, Yuriko Teranishi, Yoshiki Imai, Hiroshi Morioka, Tsuyoshi Shuto, Hirofumi Kai
Transthyretin (TTR) is a tetrameric beta-sheet-rich protein that is important in the plasma transport of thyroxine and retinol. Mutations in the TTR gene cause TTR tetramer protein to dissociate to monomer, which is the rate-limiting step in familial amyloid polyneuropathy. Amyloidogenicity of individual TTR variants depends on the types of mutation that induce significant changes in biophysical, biochemical and/or biological properties. G101S TTR variant was previously identified in a Japanese male without amyloidotic symptom, and was considered as a non-amyloidogenic TTR variant...
2018: Biological & Pharmaceutical Bulletin
https://www.readbyqxmd.com/read/29593496/q-rich-yeast-prion-psi-accelerates-aggregation-of-transthyretin-a-non-q-rich-human-protein
#4
Meenakshi Verma, Amandeep Girdhar, Basant Patel, Nirmal K Ganguly, Ritushree Kukreti, Vibha Taneja
Interactions amongst different amyloid proteins have been proposed as a probable mechanism of aggregation and thus an important risk factor for the onset as well as progression of various neurodegenerative disorders including Alzheimer's, Parkinson's, Huntington's, and Amyotrophic Lateral Sclerosis. Evidences suggest that transthyretin (TTR), a plasma protein associated with transthyretin amyloidosis or familial polyneuropathy (FAP) interacts with heterologous amyloid proteins including amyloid beta and islet amyloid polypeptide...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29581083/long-term-predictors-for-psychological-outcome-of-pre-symptomatic-testing-for-late-onset-neurological-diseases
#5
Susana Lêdo, Ana Ramires, Ângela Leite, Maria Alzira P Dinis, Jorge Sequeiros
This longitudinal study aimed at determining predicting variables for middle and long-term psychological disturbance due pre-symptomatic testing (PST) for two late-onset neurological diseases, Huntington disease (HD) and TTR (transthyretin protein) familial amyloid polyneuropathy (FAP) Val30Met (now classified as Val50Met). 196 clinical records of persons who performed PST at least three years ago and answered to the two stages of evaluation (before PST and least 3 years after disclosure of results) were analysed...
March 23, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29568686/transthyretin-familial-amyloid-polyneuropathy-ttr-fap-parameters-for-early-diagnosis
#6
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/29559999/recurrent-syncope-a-clue-in-amyloid-cardiomyopathy
#7
Julian A Marin-Acevedo, Catalina Sanchez-Alvarez, Ali A Alsaad, Ricardo J Pagán
Infiltrative cardiomyopathies include a variety of disorders that lead to myocardial thickening resulting in a constellation of clinical manifestations and eventually heart failure that could be the first clue to reach the diagnosis. Among the more described infiltrative diseases of the heart is amyloid cardiomyopathy. The disease usually presents with subtle, nonspecific symptoms. Herein, we illustrate a case of recurrent syncope as the initial presenting symptom for systemic amyloid with polyneuropathy and cardiomyopathy as a cause of syncope...
2018: Case Reports in Medicine
https://www.readbyqxmd.com/read/29544239/-transthyretin-familial-amyloid-polyneuropathy-disease-profile-of-a-multisystem-disorder
#8
Christoph Niemietz, Christoph Röcken, Matthias Schilling, Jörg Stypmann, 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
#9
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
#10
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
#11
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/29455156/antisense-oligonucleotides-and-other-genetic-therapies-made-simple
#12
EDITORIAL
Alexander M Rossor, Mary M Reilly, James N Sleigh
Many genetic neurological diseases result from the dysfunction of single proteins. Genetic therapies aim to modify these disease-associated proteins by targeting the RNA and DNA precursors. This review provides a brief overview of the main types of genetic therapies, with a focus on antisense oligonucleotides (ASOs) and RNA interference (RNAi). We use examples of new genetic therapies for spinal muscular atrophy, Duchenne muscular dystrophy and familial amyloid polyneuropathy to highlight the different mechanisms of action of ASOs and RNAi...
April 2018: Practical 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
#13
H-W Kan, H Chiang, W-M Lin, I-S Yu, S-W Lin, S-T 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/29343286/diagnosis-and-management-of-transthyretin-familial-amyloid-polyneuropathy-in-japan-red-flag-symptom-clusters-and-treatment-algorithm
#14
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/29330472/amyloid-deposition-in-a-mouse-model-humanized-at-the-transthyretin-and-retinol-binding-protein-4-loci
#15
Xiangshun Li, Yanyi Lyu, Jingling Shen, Yanshuang Mu, Lixia Qiang, Li Liu, Kimi Araki, Bruno P Imbimbo, Ken-Ichi Yamamura, Shoude Jin, Zhenghua Li
Familial amyloidotic polyneuropathy is an autosomal dominant disorder caused by a point mutation in the transthyretin (TTR) gene. The process of TTR amyloidogenesis begins with rate-limiting dissociation of the TTR tetramer. Thus, the TTR stabilizers, such as Tafamidis and Diflunisal, are now in clinical trials. Mouse models will be useful to testing the efficacy of these drugs. Although several mouse models have been generated, they all express mouse Rbp4. Thus, human TTR associates with mouse RBP4, resulting in different kinetic and thermodynamic stability profiles of TTR tetramers...
January 12, 2018: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/29310464/unwanted-road-to-anaemia-in-transthyretin-familial-amyloid-polyneuropathy-may-continue-irrespective-of-tafamidis-treatment
#16
Tokunori Ikeda, Teruaki Masuda, Mitsuharu Ueda, Taro Yamashita, Yohei Misumi, Satoru Shinriki, Yukio Ando
Background This retrospective longitudinal study was performed to determine whether tafamidis treatment leads to improvements in commonly used blood data for transthyretin familial amyloid polyneuropathy (TTR-FAP). Methods Commonly used blood data (complete blood count [including a haemogram], total protein, albumin, blood urea nitrogen, creatinine, aspartate aminotransferase, alanine aminotransferase, alkaline phosphatase, lactate dehydrogenase, γ-glutamyl transpeptidase, total bilirubin [T-Bil], creatine kinase, choline esterase, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, estimated glomerular filtration rate [eGFR], serum amyloid A protein, TTR, haemoglobin A1c, free triiodothyronine [FT3] and free thyroxine [FT4]) were investigated in 33 TTR-FAP patients...
January 1, 2018: Annals of Clinical Biochemistry
https://www.readbyqxmd.com/read/29288430/co-precipitation-molecules-hemopexin-and-transferrin-may-be-key-molecules-for-fibrillogenesis-in-ttr-v30m-amyloidogenesis
#17
Mika Ohta, Aki Sugano, Naoya Hatano, Hirotaka Sato, Hirofumi Shimada, Hitoshi Niwa, Toshiyuki Sakaeda, Hajime Tei, Yoshiyuki Sakaki, Ken-Ichi Yamamura, Yutaka Takaoka
The disease model of familial amyloidotic polyneuropathy-7.2-hMet30 mice-manifests amyloid deposition that consists of a human amyloidogenic mutant transthyretin (TTR) (TTR V30M). Our previous study found amyloid deposits in 14 of 27 7.2-hMet30 mice at 21-24 months of age. In addition, non-fibrillar TTR deposits were found in amyloid-negative 7.2hMet30 mice. These results suggested that TTR amyloidogenesis required not only mutant TTR but also an additional factor (or factors) as an etiologic molecule. To determine the differences in serum proteome in amyloid-positive and amyloid-negative mice in the 7...
February 2018: Transgenic Research
https://www.readbyqxmd.com/read/29283951/knee-arthrodesis-in-a-patient-with-charcot-neuroarthropathy-secondary-to-familial-amyloid-polyneuropathy-a-case-report
#18
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
#19
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/29249054/transthyretin-familial-amyloid-polyneuropathy-an-update
#20
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
keyword
keyword
66085
1
2
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"