keyword
MENU ▼
Read by QxMD icon Read
search

hereditary neuropathy

keyword
https://www.readbyqxmd.com/read/28912683/nano-scale-biophysical-and-structural-investigations-on-intact-and-neuropathic-nerve-fibers-by-simultaneous-combination-of-atomic-force-and-confocal-microscopy
#1
Gonzalo Rosso, Ivan Liashkovich, Peter Young, Victor Shahin
The links between neuropathies of the peripheral nervous system (PNS), including Charcot-Marie-Tooth1A and hereditary neuropathy with liability to pressure palsies, and impaired biomechanical and structural integrity of PNS nerves remain poorly understood despite the medical urgency. Here, we present a protocol describing simultaneous structural and biomechanical integrity investigations on isolated nerve fibers, the building blocks of nerves. Nerve fibers are prepared from nerves harvested from wild-type and exemplary PNS neuropathy mouse models...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28902413/frequent-genes-in-rare-diseases-panel-based-next-generation-sequencing-to-disclose-causal-mutations-in-hereditary-neuropathies
#2
Maike F Dohrn, Nicola Glöckle, Lejla Mulahasanovic, Corina Heller, Julia Mohr, Christine Bauer, Erik Riesch, Andrea Becker, Florian Battke, Konstanze Hörtnagel, Thorsten Hornemann, Saranya Suriyanarayanan, Markus Blankenburg, Jörg B Schulz, Kristl G Claeys, Burkhard Gess, Istvan Katona, Andreas Ferbert, Debora Vittore, Alexander Grimm, Stefan Wolking, Ludger Schöls, Holger Lerche, G Christoph Korenke, Dirk Fischer, Bertold Schrank, Urania Kotzaeridou, Gerhard Kurlemann, Bianca Dräger, Anja Schirmacher, Peter Young, Beate Schlotter-Weigel, Saskia Biskup
Hereditary neuropathies comprise a wide variety of chronic diseases associated to more than 80 genes identified to date. We herein examined 612 index patients with either a Charcot-Marie-Tooth phenotype, hereditary sensory neuropathy, familial amyloid neuropathy, or small fiber neuropathy using a customized multigene panel based on the next generation sequencing (NGS) technique. In 121 cases (19.8%), we identified at least one putative pathogenic mutation. Out of these, 54.4% showed an autosomal dominant, 33...
September 13, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28893208/trial-design-and-rationale-for-apollo-a-phase-3-placebo-controlled-study-of-patisiran-in-patients-with-hereditary-attr-amyloidosis-with-polyneuropathy
#3
David Adams, Ole B Suhr, Peter J Dyck, William J Litchy, Raina G Leahy, Jihong Chen, Jared Gollob, Teresa Coelho
BACKGROUND: Patisiran is an investigational RNA interference (RNAi) therapeutic in development for the treatment of hereditary ATTR (hATTR) amyloidosis, a progressive disease associated with significant disability, morbidity, and mortality. METHODS: Here we describe the rationale and design of the Phase 3 APOLLO study, a randomized, double-blind, placebo-controlled, global study to evaluate the efficacy and safety of patisiran in patients with hATTR amyloidosis with polyneuropathy...
September 11, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28892826/increased-mortality-and-comorbidity-associated-with-leber-s-hereditary-optic-neuropathy-a-nationwide-cohort-study
#4
Nanna Vestergaard, Thomas Rosenberg, Christian Torp-Pedersen, Henrik Vorum, Carl U Andersen, Kristian Aasbjerg
Purpose: Leber's hereditary optic neuropathy (LHON) is a mitochondrial genetic disease in which optic neuropathy is considered a key feature. Several other manifestations of LHON have been reported; however, only little is known of their incidence and the life expectancy in LHON patients. Methods: This study, based on Danish nationwide health registries, included 141 patients diagnosed with LHON and 297 unaffected family members in the maternal line. The incidence of comorbidities and mortality for patients with LHON and unaffected family members was compared with that in the general population...
September 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28891012/visualization-of-multiple-organ-amyloid-involvement-in-systemic-amyloidosis-using-11-c-pib-pet-imaging
#5
Naoki Ezawa, Nagaaki Katoh, Kazuhiro Oguchi, Tsuneaki Yoshinaga, Masahide Yazaki, Yoshiki Sekijima
PURPOSE: To investigate the utility of Pittsburgh compound B (PiB) positron emission tomography (PET) imaging for evaluating whole-body amyloid involvement in patients with systemic amyloidosis. METHODS: Whole-body (11)C-PiB PET was performed in seven patients with systemic immunoglobulin light-chain (AL) amyloidosis, seven patients with hereditary transthyretin (ATTRm) amyloidosis, one asymptomatic TTR mutation carrier and three healthy controls. The correlations between clinical organ involvement, radiological (11)C-PiB uptake and histopathological findings were analysed for each organ...
September 10, 2017: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/28843771/autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay-arsacs-a-polish-family-with-novel-sacs-mutations
#6
Magdalena Krygier, Agnieszka Konkel, Michał Schinwelski, Małgorzata Rydzanicz, Anna Walczak, Magdalena Sildatke-Bauer, Rafał Płoski, Jarosław Sławek
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare hereditary ataxia, characterized by the triad of early-onset cerebellar ataxia, peripheral sensorimotor neuropathy and lower limb spasticity. Although ARSACS is increasingly reported worldwide, we present the first Polish family with a comprehensive clinical and neuropsychological assessment, harboring two novel mutations in the SACS gene. Our results demonstrate the variability in cognitive and behavioral profiles in ARSACS, which is in line with other heredodegenerative ataxias...
August 17, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28834584/a-de-novo-dominant-mutation-in-kif1a-associated-with-axonal-neuropathy-spasticity-and-autism-spectrum-disorder
#7
Pedro J Tomaselli, Alexander M Rossor, Alejandro Horga, Matilde Laura, Julian C Blake, Henry Houlden, Mary M Reilly
Mutations in the kinesin family member 1A (KIF1A) gene have been associated with a wide range of phenotypes including recessive mutations causing hereditary sensory neuropathy and hereditary spastic paraplegia and de novo dominant mutations causing a more complex neurological disorder affecting both the central and peripheral nervous system. We identified by exome sequencing a de novo dominant missense variant, (c.38G>A, p.R13H), within an ATP binding site of the kinesin motor domain in a patient manifesting a complex phenotype characterized by autism spectrum disorder, spastic paraplegia and axonal neuropathy...
August 23, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28828227/a-novel-p-t139m-mutation-in-hspb1-highlighting-the-phenotypic-spectrum-in-a-family
#8
Jakkrit Amornvit, Mehmet E Yalvac, Lei Chen, Zarife Sahenk
INTRODUCTION: Mutations in the HSPB1 gene encoding the small heat shock protein B1 are associated with an autosomal dominant, axonal form of Charcot-Marie-Tooth disease 2F (CMT2F) and distal hereditary motor neuropathy. Recently, distal myopathy had been described in a patient carrying HSPB1 mutation adding to the complexity of phenotypes resulting from HSPB1 mutations. METHODS: Five patients in a family with concerns of hereditary neuropathy were included. Detailed clinical examinations, including assessments of motor and sensory function, and electrophysiological data were obtained...
August 2017: Brain and Behavior
https://www.readbyqxmd.com/read/28814402/molecular-insights-into-the-normal-operation-regulation-and-multisystemic-roles-of-k-cl-cotransporter-3-kcc3
#9
Alexandre P Garneau, Andrée-Anne Marcoux, Rachelle Frenette-Cotton, Fabrice Mac-Way, Julie L Lavoie, Paul Isenring
Long before the molecular identity of the Na(+)-dependent K(+)-Cl(-) cotransporters was uncovered in the mid-nineties, a Na(+)-independent K(+)-Cl(-) cotransport system was also known to exist. It was initially observed in sheep and goat red blood cells where it was shown to be ouabain-insensitive and to increase in the presence of N-ethylmaleimide (NEM). After it was established between the early and mid-nineties, the expressed sequence tag (EST) databank was found to include a sequence that was highly homologous to those of the Na(+)-dependent K(+)-Cl(-) cotransporters...
August 16, 2017: American Journal of Physiology. Cell Physiology
https://www.readbyqxmd.com/read/28810241/molecular-epidemiology-of-charcot-marie-tooth-disease-in-northern-ostrobothnia-finland-a-population-based-study
#10
Maria Marttila, Laura Kytövuori, Seppo Helisalmi, Mika Kallio, Marjo Laitinen, Mikko Hiltunen, Mikko Kärppä, Kari Majamaa
BACKGROUND: Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuromuscular disorder with a population prevalence of 9.7-82.3/100,000. In this study, we have estimated the prevalence of CMT and its subtypes in Finland and examined the frequency of molecular etiologies. METHODS: A population-based survey included adult patients with peripheral neuropathy from the province of Northern Ostrobothnia, Finland. Secondary causes of peripheral polyneuropathy were excluded and patients with clinical and neurophysiological features pertinent with CMT were included...
August 16, 2017: Neuroepidemiology
https://www.readbyqxmd.com/read/28807049/oral-manifestations-dental-management-and-a-rare-homozygous-mutation-of-the-prdm12-gene-in-a-boy-with-hereditary-sensory-and-autonomic-neuropathy-type-viii-a-case-report-and-review-of-the-literature
#11
Karim Elhennawy, Seif Reda, Christian Finke, Luitgard Graul-Neumann, Paul-Georg Jost-Brinkmann, Theodosia Bartzela
BACKGROUND: Hereditary sensory and autonomic neuropathy type VIII is a rare autosomal recessive inherited disorder. Chen et al. recently identified the causative gene and characterized biallelic mutations in the PR domain-containing protein 12 gene, which plays a role in the development of pain-sensing nerve cells. Our patient's family was included in Chen and colleagues' study. We performed a literature review of the PubMed library (January 1985 to December 2016) on hereditary sensory and autonomic neuropathy type I to VIII genetic disorders and their orofacial manifestations...
August 15, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28806189/the-use-of-optical-coherence-tomography-in-neuro-ophthalmology
#12
Noel C Y Chan, Carmen K M Chan
PURPOSE OF REVIEW: In the last decade, with the advances of optical coherence tomography (OCT) technology, different imaging protocols and analysis algorithms have been introduced to maximize the potential of this diagnostic tool in the evaluation of different eye diseases. This review aims to provide an update on these additional features, with respect to the management of a diverse range of neuro-ophthalmologic conditions. RECENT FINDINGS: Macular ganglion cell complex (mGCC) analysis has been shown to be superior to peripapillary retinal nerve fiber layer (pRNFL) analysis in certain settings, such as differentiating Leber's hereditary optic neuropathy from functional visual loss; monitoring neurodegenerative diseases or multiple sclerosis; and predicting visual loss in nonarteritic ischemic optic neuropathy...
August 12, 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28802665/no-evidence-of-association-between-optic-neuritis-and-secondary-lhon-mtdna-mutations-in-patients-with-multiple-sclerosis
#13
Sasan Andalib, Mahnaz Talebi, Ebrahim Sakhinia, Mehdi Farhoudi, Homayoun Sadeghi-Bazargani, Nooshin Masoodian, Manouchehr Seyedi Vafaee, Albert Gjedde
Leber's Hereditary Optic Neuropathy (LHON) shares features with Multiple Sclerosis (MS). Both diseases develop optic lesions. Frequent secondary LHON mutations in MS patients may explain the optic damage. Here, we tested the hypothesis that secondary LHON mutations are associated with optic neuritis (ON) in MS patients. We recruited 56 MS subjects with ON and 47 MS subjects without ON. DNA was extracted by salting out, after sampling of peripheral blood from each participant. We completed Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) analysis with appropriate primers and restriction endonucleases for seven secondary LHON mutations...
August 9, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28802308/vitreous-amyloidosis-with-autonomic-neuropathy-of-the-digestive-tract-associated-with-a-novel-transthyretin-p-gly87arg-variant-in-a-bangladeshi-patient-a-case-report
#14
Benjamin Terrier, Magali Colombat, Caroline Beugnet, Astrid Quéant, Jonathan London, Jean-Baptiste Daudin, Claire Le Jeunne, Luc Mouthon, Dominique Monnet, Cécile Cauquil, Catherine Lacroix, David Adams, Antoine Brézin, Sophie Valleix
BACKGROUND: Hereditary transthyretin amyloidosis is an autosomal dominant inherited disorder, first described in families with sensorimotor and autonomic neuropathy. Since its first description, more than 120 amyloidogenic transthyretin mutations have been reported with various geographic distributions and associated with a wide range of phenotypes involving the peripheral nerve, the heart, the gastrointestinal tract, the eyes, the central nervous system, or the kidneys. In some cases of transthyretin amyloidosis, the first clinical manifestation is vitreous opacity...
August 13, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28802056/different-nerve-ultrasound-patterns-in-charcot-marie-tooth-types-and-hereditary-neuropathy-with-liability-to-pressure-palsies
#15
Luca Padua, Daniele Coraci, Marta Lucchetta, Ilaria Paolasso, Costanza Pazzaglia, Giuseppe Granata, Mario Cacciavillani, Marco Luigetti, Fiore Manganelli, Chiara Pisciotta, Giuseppe Piscosquito, Davide Pareyson, Chiara Briani
INTRODUCTION: Nerve ultrasound in Charcot-Marie-Tooth (CMT) disease has focused mostly on the upper limbs. We performed an evaluation of a large cohort of CMT patients in which we sonographically characterized nerve abnormalities in different disease types, ages, and nerves. METHODS: Seventy patients affected by different CMT types and hereditary neuropathy with liability to pressure palsies (HNPP) were evaluated, assessing median, ulnar, fibular, tibial, and sural nerves bilaterally...
August 12, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28797631/hspb1-mutations-causing-hereditary-neuropathy-in-humans-disrupt-non-cell-autonomous-protection-of-motor-neurons
#16
Patrick L Heilman, SungWon Song, Carlos J Miranda, Kathrin Meyer, Amit K Srivastava, Amy Knapp, Christopher G Wier, Brian K Kaspar, Stephen J Kolb
Heat shock protein beta-1 (HSPB1), is a ubiquitously expressed, multifunctional protein chaperone. Mutations in HSPB1 result in the development of a late-onset, distal hereditary motor neuropathy type II (dHMN) and axonal Charcot-Marie Tooth disease with sensory involvement (CMT2F). The functional consequences of HSPB1 mutations associated with hereditary neuropathy are unknown. HSPB1 also displays neuroprotective properties in many neuronal disease models, including the motor neuron disease amyotrophic lateral sclerosis (ALS)...
August 7, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28780615/a-knock-in-knock-out-mouse-model-of-hspb8-associated-distal-hereditary-motor-neuropathy-and-myopathy-reveals-toxic-gain-of-function-of-mutant-hspb8
#17
Delphine Bouhy, Manisha Juneja, Istvan Katona, Anne Holmgren, Bob Asselbergh, Vicky De Winter, Tino Hochepied, Steven Goossens, Jody J Haigh, Claude Libert, Chantal Ceuterick-de Groote, Joy Irobi, Joachim Weis, Vincent Timmerman
Mutations in the small heat shock protein B8 gene (HSPB8/HSP22) have been associated with distal hereditary motor neuropathy, Charcot-Marie-Tooth disease, and recently distal myopathy. It is so far not clear how mutant HSPB8 induces the neuronal and muscular phenotypes and if a common pathogenesis lies behind these diseases. Growing evidence points towards a role of HSPB8 in chaperone-associated autophagy, which has been shown to be a determinant for the clearance of poly-glutamine aggregates in neurodegenerative diseases but also for the maintenance of skeletal muscle myofibrils...
August 5, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28770311/mr-neurography-mrn-of-the-long-thoracic-nerve-retrospective-review-of-clinical-findings-and-imaging-results-at-our-institution-over-4%C3%A2-years
#18
Swati Deshmukh, Laura M Fayad, Shivani Ahlawat
OBJECTIVE: Long thoracic nerve (LTN) injury can result in ipsilateral serratus anterior palsy and scapular winging. Traditional means of evaluating patients with suspected LTN injury include physical examination and electrodiagnostic studies. The purpose of our study is to describe high-resolution magnetic resonance (MR) findings in patients with clinical suspicion of LTN neuropathy. METHODS: In this HIPAA-compliant, IRB-approved, retrospective study, two radiologists reviewed MR imaging performed for long thoracic neuropathy...
August 2, 2017: Skeletal Radiology
https://www.readbyqxmd.com/read/28768321/leber-s-hereditary-optic-neuropathy-specific-mutation-m-11778g-a-exists-on-diverse-mitochondrial-haplogroups-in-india
#19
Nahid Akhtar Khan, Periyasamy Govindaraj, Nagasamy Soumittra, Sonika Sharma, Sundaramoorthy Srilekha, Selvakumar Ambika, Ayyasamy Vanniarajan, Angamuthu Kanikannan Meena, Megha S Uppin, Challa Sundaram, Parayil Sankaran Bindu, Narayanappa Gayathri, Arun B Taly, Kumarasamy Thangaraj
Purpose: Leber's hereditary optic neuropathy (LHON; OMIM 535000) is one of the most common maternally inherited mitochondrial disorders. Three mitochondrial DNA point mutations-m.3460G>A (MT-ND1), m.11778G>A (MT-ND4), and m.14484T>C (MT-ND6)-account for the majority of reported LHON cases. Only approximately 50% of males and approximately 10% of females carrying these mutations develop optic neuropathy and blindness. Additional factors, such as mtDNA/nuclear genetic background and environmental modifiers, are likely to contribute toward the observed incomplete penetrance and gender bias...
August 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28766925/posterior-column-ataxia-with-retinitis-pigmentosa-coexisting-with-sensory-autonomic-neuropathy-and-leukemia-due-to-the-homozygous-p-pro221ser-flvcr1-mutation
#20
Marco Castori, Silvia Morlino, Martin Ungelenk, Davide Pareyson, Ettore Salsano, Paola Grammatico, Emanuela Tolosano, Ingo Kurth, Deborah Chiabrando
FLVCR1 encodes for a ubiquitous heme exporter, whose recessive mutations cause posterior column ataxia with retinitis pigmentosa (PCARP). Recently, FLVCR1 recessive mutations were also found in two sporadic children with hereditary sensory-autonomic neuropathy (HSAN). We report the unique case of a 33-year-old Italian woman with a combination of typical PCARP, sensory-autonomic neuropathy with sensory loss to all modalities and multiple autonomic dysfuctions, and acute lymphocytic leukemia. Molecular analysis demonstrated homozygosity for the previously identified FLVCR1 p...
August 2, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
keyword
keyword
74579
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"