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hereditary neuropathy

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https://www.readbyqxmd.com/read/28814402/molecular-insights-into-the-normal-operation-regulation-and-multisystemic-roles-of-k-cl-cotransporter-3-kcc3
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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-hnpp
#7
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 disease (CMT) has mostly focused on 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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/28761322/optimization-of-a-genotyping-screening-based-on-hydrolysis-probes-to-detect-the-main-mutations-related-to-leber-hereditary-optic-neuropathy-lhon
#13
Fábio Tadeu Arrojo Martins, Paulo Maurício do Amor Divino Miranda, Marcela Scabello Amaral Fernandes, Andréa Trevas Maciel-Guerra, Edi Lúcia Sartorato
PURPOSE: Leber hereditary optic neuropathy (LHON) is a mitochondrial inherited disease characterized by bilateral vision problems, such as reduced visual acuity, dyschromatopsia, and central or centrocecal scotoma. Of these cases, 95% are caused by three mutations in mitochondrial DNA (mtDNA): m.G11778A, followed by m.T14484C and m.G3460A. The remaining 5% of cases of LHON are caused by rare mutations also present in mtDNA. Although conventional molecular tools for molecular screening of LHON are becoming popular, in most cases these tools are still expensive and time-consuming and are difficult to reproduce...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28747872/l-3-n-butylphthalide-protects-hspb8-k141n-mutation-induced-oxidative-stress-by-modulating-the-mitochondrial-apoptotic-and-nrf2-pathways
#14
Xiao-Dong Yang, Zhi-Dong Cen, Hai-Peng Cheng, Kai Shi, Jie Bai, Fei Xie, Hong-Wei Wu, Bei-Bei Li, Wei Luo
Charcot-Marie-Tooth disease (CMT), also known as hereditary motor and sensory neuropathy, is the most common inherited peripheral nerve disorder. Missense mutations, such as K141N, in the small heat shock protein HSPB8 are known to cause distal hereditary motor neuropathy 2A (dHMN2A) or Charcot-Marie-Tooth neuropathy type 2L (CMT2L). However, of critical clinical significance, very few specific therapies for this disease exist. In the present study, we investigated the impact of mutant K141N HSPB8 on mitochondrial distribution and function in a cellular model of CMT2L...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28745242/leber-s-heriditary-optic-neuropathy-the-shift-from-an-opthalmologic-disease-to-a-multi-systemic-paradigm
#15
Jasna Jancic, Stevan Stojanovic, Amalija Stojanovic, Ana Marija Milanovic, Blazo Nikolic, Nikola Ivancevic, Janko Samardzic
Leber's hereditary optic neuropathy is an inherited form of optic neuropathy, genetically and based on mitochondrial insufficiency causing bilateral loss of central vision mostly at a young age. Despite being one of the most common mitochondrial diseases, the explanation for its pathophysiological background and effective clinical solutions remain elusive. Widening the scope in the search for pathological findings beyond the optic system has yielded several non-ophthalmologic findings, which might imply that Leber's hereditary optic neuropathy is in fact a multi-systemic disease...
July 24, 2017: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/28736206/bpag1-in-muscles-structure-and-function-in-skeletal-cardiac-and-smooth-muscle
#16
REVIEW
Masao Horie, Nozomu Yoshioka, Hirohide Takebayashi
BPAG1, also known as Dystonin or BP230, belongs to the plakin family of proteins, which has multiple cytoskeleton-binding domains. Several BPAG1 isoforms are produced by a single BPAG1 genomic locus using different promoters and exons. For example, BPAG1a, BPAG1b, and BPAG1e are predominantly expressed in the nervous system, muscle, and skin, respectively. Among BPAG1 isoforms, BPAG1e is well studied because it was first identified as an autoantigen in patients with bullous pemphigoid, an autoimmune skin disease...
July 20, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/28729193/the-pattern-of-retinal-ganglion-cell-dysfunction-in-leber-hereditary-optic-neuropathy
#17
A Majander, A G Robson, C João, G E Holder, P F Chinnery, A T Moore, M Votruba, A Stockman, P Yu-Wai-Man
Leber inherited optic neuropathy (LHON) is characterized by subacute bilateral loss of central vision due to dysfunction and loss of retinal ganglion cells (RGCs). Comprehensive visual electrophysiological investigations (including pattern reversal visual evoked potentials, pattern electroretinography and the photopic negative response) performed on 13 patients with acute and chronic LHON indicate early impairment of RGC cell body function and severe axonal dysfunction. Temporal, spatial and chromatic psychophysical tests performed on 7 patients with acute LHON and 4 patients with chronic LHON suggest severe involvement or loss of the midget, parasol and bistratified RGCs associated with all three principal visual pathways...
July 17, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28725290/the-discovery-of-the-flammer-syndrome-a-historical-and-personal-perspective
#18
REVIEW
Josef Flammer, Katarzyna Konieczka
This review describes the clinical and basic research that led to the description of Flammer syndrome. It is narrated from a personal perspective. This research was initiated by the observation of an increased long-term fluctuation of visual fields in a subgroup of glaucoma patients. As these patients had strikingly cold hands, peripheral blood flow was tested with a capillary microscopy, and vasospastic syndrome (VS) was diagnosed. Further studies on these patients revealed frequently weakened autoregulation of ocular blood flow and increased flow resistivity in retroocular vessels...
June 2017: EPMA Journal
https://www.readbyqxmd.com/read/28725025/an-atypical-case-of-spg56-cyp2u1-related-spastic-paraplegia-presenting-with-delayed-myelination
#19
Gaku Minase, Satoko Miyatake, Shin Nabatame, Hiroshi Arai, Eriko Koshimizu, Takeshi Mizuguchi, Mitsuko Nakashima, Noriko Miyake, Hirotomo Saitsu, Toshinobu Miyamoto, Kazuo Sengoku, Naomichi Matsumoto
Hereditary spastic paraplegia (HSP) is a neurological disorder characterized by a progressive spasticity and muscle weakness of the lower limbs. It is divided into two subtypes, uncomplicated and complicated forms. Biallelic mutations in the cytochrome P450 2U1 gene (CYP2U1) are associated with spastic paraplegia type 56 (SPG56), manifesting both uncomplicated and complicated HSP. Accompanying clinical features include intellectual disability, dystonia, cerebellar ataxia, subclinical peripheral neuropathy, visual impairment, as well as abnormalities in brain magnetic resonance imaging...
July 20, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28716668/incomplete-penetrance-in-mitochondrial-optic-neuropathies
#20
Leonardo Caporali, Alessandra Maresca, Mariantonietta Capristo, Valentina Del Dotto, Francesca Tagliavini, Maria Lucia Valentino, Chiara La Morgia, Valerio Carelli
Incomplete penetrance characterizes the two most frequent inherited optic neuropathies, Leber's Hereditary Optic Neuropathy (LHON) and dominant optic atrophy (DOA), due to genetic errors in the mitochondrial DNA (mtDNA) and the nuclear DNA (nDNA), respectively. For LHON, compelling evidence has accumulated on the complex interplay of mtDNA haplogroups and environmental interacting factors, whereas the nDNA remains essentially non informative. However, a compensatory mechanism of activated mitochondrial biogenesis and increased mtDNA copy number, possibly driven by a permissive nDNA background, is documented in LHON; when successful it maintains unaffected the mutation carriers, but in some individuals it might be hampered by tobacco smoking or other environmental factors, resulting in disease onset...
July 14, 2017: Mitochondrion
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