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Genetic neuropathies

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https://www.readbyqxmd.com/read/28936366/constitutive-and-stress-induced-expression-of-ccl5-machinery-in-rodent-retina
#1
D'Anne S Duncan, William M McLaughlin, Noah Vasilakes, Franklin D Echevarria, Cathryn R Formichella, Rebecca M Sappington
Signaling by inflammatory cytokines and chemokines is associated with neurodegeneration in disease and injury. Here we examined expression of the β-chemokine CCL5 and its receptors in the mouse retina and evaluated its relevance in glaucoma, a common optic neuropathy associated with sensitivity to intraocular pressure (IOP). Using quantitative PCR, fluorescent in situ hybridization, immunohistochemistry and quantitative image analysis, we found CCL5 mRNA and protein was constitutively expressed in the inner retina and synaptic layers...
June 2017: Journal of Clinical & Cellular Immunology
https://www.readbyqxmd.com/read/28933964/identification-of-novel-spg11-mutations-in-a-cohort-of-chinese-families-with-hereditary-spastic-paraplegia
#2
Juan Du, Ya-Cen Hu, Bei-Sha Tang, Hong Jiang, Lu Shen
Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurological diseases. To date, studies about Chinese ARHSP have been small and limited to single case. To fill this gap, we have scanned the whole exons of KIAA1840, ZFYVE26, SPG7 and CYP7B1 genes in a group of 36 unrelated ARHSP families, which is the first study conducted to investigate the mutation frequency of these ARHSP types in China. Finally, SPG11 mutations are found in 33.33% (12/36) of ARHSP patients in our study, and no mutation was identified in SPG15, SPG5 or SPG7 genes...
September 21, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28932370/clinical-evaluation-of-vasomotor-system-functionality-in-type-2-diabetic-patients
#3
Mehdi Maghbooli, Hossein Chiti, Sakineh Taheri, Masoud Asadi-Khiavi
BACKGROUND: Autonomic neuropathy and vital organ dysfunctions are the known complications in type 2 diabetes Mellitus (DM). Genetic endowments involving individuals make subtle differences in physiological systems, particularly at the time of sickness. Hence, the presented study was designed to evaluate the vasomotor system in healthy people and type 2 DM cases for determining any functionality differences between the mentioned groups. METHODS: Sixty patients with type 2 diabetes (case group) and sixty healthy subjects (control group) matched for age and sex were enrolled in the study...
2017: Caspian Journal of Internal Medicine
https://www.readbyqxmd.com/read/28925940/zebrafish-as-a-model-for-the-study-of-microvascular-complications-of-diabetes-and-their-mechanisms
#4
REVIEW
Karl Heckler, Jens Kroll
Diabetes mellitus (DM) is a crucial metabolic disease that leads to severe disorders. These include macrovascular complications such as myocardial infarction, stroke, and peripheral artery disease and microvascular complications including diabetic nephropathy, neuropathy, and retinopathy. Diabetes mellitus, along with its associated organ pathologies, is one of the key problems in today's medicine. Zebrafish is an upcoming disease model organism in diabetes research. Its glucose metabolism and the pathways of reactive metabolite formation are very similar to those of humans...
September 19, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28902089/new-insights-in-vanishing-white-matter-disease-isolated-bilateral-optic-neuropathy-in-adult-onset-disease
#5
Sandra R Barros, Sónia C R Parreira, Ana F B Miranda, Ana M B Pereira, Nuno M P Campos
BACKGROUND: Vanishing white matter disease (VWMD) is a rare disease affecting cerebral white matter. The adult form is even rarer and manifests with motor symptoms, behavioral problems, and dementia. There is no treatment and progression is inevitable. We describe a case with atypical manifestations and an unusual course. METHODS: Description of a 42-year-old man with VWMD complaining of progressive visual loss in the right eye. RESULTS: The patient's visual acuity was 20/60, right eye, and 20/25, left eye, with pale optic nerves bilaterally...
September 7, 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/28899393/the-mixed-benefit-of-low-lipoprotein-a-in-type-2-diabetes
#6
Michel P Hermans, Sylvie A Ahn, Michel F Rousseau
BACKGROUND: Lipoprotein(a) (Lp(a)), a variant low-density lipoprotein (LDL), is a major genetic risk factor for cardiovascular disease. It is unknown whether an inverse relationship exists between Lp(a) and β-cell function (BCF), as for LDL-cholesterol (LDL-C) lowering by statins. We therefore assessedthe cardiometabolic phenotype of 340 men with type 2 diabetes mellitus (T2DM) in relation to Lp(a), focusing on BCF and hyperbolic product [BxS], which adjusts BCF to insulin sensitivity and secretion...
September 12, 2017: Lipids in Health and Disease
https://www.readbyqxmd.com/read/28892950/riley-day-syndrome-in-a-hispanic-infant-of-non-jewish-ashkenazi-descent
#7
Abel Ramírez-Estudillo, Gerardo González-Saldivar, Itzel Espinosa-Soto, Jesús González-Cortez, Alejandro Salcido-Montenegro
Riley-Day syndrome is an autosomal recessive sensory and autonomic neuropathy. Patients present a lack of fungiform papilla, alacrima and usually feeding difficulties. It is present almost exclusively in Ashkenazi Jewish individuals and has a poor prognosis. We describe an unusual case of Riley-Day syndrome with pseudostrabismus in a non-Ashkenazi Jewish patient. A one-year-old female infant was referred for evaluation of strabismus, absence of fungiform papillae, feeding difficulty, gastroesophageal reflux and episodes of self-mutilation...
July 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28892826/increased-mortality-and-comorbidity-associated-with-leber-s-hereditary-optic-neuropathy-a-nationwide-cohort-study
#8
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/28888072/characterization-of-isolated-amyloid-myopathy
#9
Teerin Liewluck, Margherita Milone
BACKGROUND AND PURPOSE: Amyloid myopathy frequently occurs in the setting of systemic amyloidosis and less commonly in isolation (isolated amyloid myopathy). Anoctaminopathy-5 and dysferlinopathy were recently recognized as causes of isolated amyloid myopathy. The present study aimed to characterize the isolated amyloid myopathy and to compare it with amyloid myopathy associated with systemic amyloidosis. METHODS: We searched Muscle Laboratory database to identify patients with pathologically-confirmed amyloid myopathy and were seen in neurology clinics between January 1998 and September 2016...
September 9, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28887803/psychosis-in-spinocerebellar-ataxias-a-case-series-and-study-of-tyrosine-hydroxylase-in-substantia-nigra
#10
Katherine W Turk, Margaret E Flanagan, Samuel Josephson, C Dirk Keene, Suman Jayadev, Thomas D Bird
Spinocerebellar ataxias are a genetically heterogeneous group of degenerative diseases typically characterized by progressive ataxia and to various degrees, neuropathy, amyotrophy, and ocular abnormalities. There is increasing evidence for non-motor manifestations associated with cerebellar syndromes including cognitive and psychiatric features. We studied a retrospective clinical case series of eight subjects with spinocerebellar ataxias (SCAs) 2, 3, 7, and 17, all displaying features of psychosis, and also measured tyrosine hydroxylase (TH) staining of the substantia nigra (SN) at autopsy, among four of the subjects...
September 8, 2017: Cerebellum
https://www.readbyqxmd.com/read/28858158/glaucoma-as-a-metabolic-optic-neuropathy-making-the-case-for-nicotinamide-treatment-in-glaucoma
#11
Pete A Williams, Jeffrey M Harder, Simon W M John
Mitochondrial dysfunction may be an important, if not essential, component of human glaucoma. Using transcriptomics followed by molecular and neurobiological techniques, we have recently demonstrated that mitochondrial dysfunction within retinal ganglion cells is an early feature in the DBA/2J mouse model of inherited glaucoma. Guided by these findings, we discovered that the retinal level of nicotinamide adenine dinucleotide (NAD, a key molecule for mitochondrial health) declines in an age-dependent manner...
August 28, 2017: Journal of Glaucoma
https://www.readbyqxmd.com/read/28853718/genetic-correlations-between-intraocular-pressure-blood-pressure-and-primary-open-angle-glaucoma-a-multi-cohort-analysis
#12
Hugues Aschard, Jae H Kang, Adriana I Iglesias, Pirro Hysi, Jessica N Cooke Bailey, Anthony P Khawaja, R Rand Allingham, Allison Ashley-Koch, Richard K Lee, Sayoko E Moroi, Murray H Brilliant, Gadi Wollstein, Joel S Schuman, John H Fingert, Donald L Budenz, Tony Realini, Terry Gaasterland, William K Scott, Kuldev Singh, Arthur J Sit, Robert P Igo, Yeunjoo E Song, Lisa Hark, Robert Ritch, Douglas J Rhee, Vikas Gulati, Shane Haven, Douglas Vollrath, Donald J Zack, Felipe Medeiros, Robert N Weinreb, Ching-Yu Cheng, Daniel I Chasman, William G Christen, Margaret A Pericak-Vance, Yutao Liu, Peter Kraft, Julia E Richards, Bernard A Rosner, Michael A Hauser, Caroline C W Klaver, Cornelia M vanDuijn, Jonathan Haines, Janey L Wiggs, Louis R Pasquale
Primary open-angle glaucoma (POAG) is the most common chronic optic neuropathy worldwide. Epidemiological studies show a robust positive relation between intraocular pressure (IOP) and POAG and modest positive association between IOP and blood pressure (BP), while the relation between BP and POAG is controversial. The International Glaucoma Genetics Consortium (n=27 558), the International Consortium on Blood Pressure (n=69 395), and the National Eye Institute Glaucoma Human Genetics Collaboration Heritable Overall Operational Database (n=37 333), represent genome-wide data sets for IOP, BP traits and POAG, respectively...
August 30, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28842795/x-linked-hypomyelination-with-spondylometaphyseal-dysplasia-h-smd-associated-with-mutations-in-aifm1
#13
Noriko Miyake, Nicole I Wolf, Ferdy K Cayami, Joanna Crawford, Annette Bley, Dorothy Bulas, Alex Conant, Stephen J Bent, Karen W Gripp, Andreas Hahn, Sean Humphray, Shihoko Kimura-Ohba, Zoya Kingsbury, Bryan R Lajoie, Dennis Lal, Dimitra Micha, Amy Pizzino, Richard J Sinke, Deborah Sival, Irene Stolte-Dijkstra, Andrea Superti-Furga, Nicole Ulrick, Ryan J Taft, Tsutomu Ogata, Keiichi Ozono, Naomichi Matsumoto, Bernd A Neubauer, Cas Simons, Adeline Vanderver
An X-linked condition characterized by the combination of hypomyelinating leukodystrophy and spondylometaphyseal dysplasia (H-SMD) has been observed in only four families, with linkage to Xq25-27, and recent genetic characterization in two families with a common AIFM1 mutation. In our study, 12 patients (6 families) with H-SMD were identified and underwent comprehensive assessment accompanied by whole-exome sequencing (WES). Pedigree analysis in all families was consistent with X-linked recessive inheritance...
August 26, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28841859/a-gja9-frameshift-variant-is-associated-with-polyneuropathy-in-leonberger-dogs
#14
Doreen Becker, Katie M Minor, Anna Letko, Kari J Ekenstedt, Vidhya Jagannathan, Tosso Leeb, G Diane Shelton, James R Mickelson, Cord Drögemüller
BACKGROUND: Many inherited polyneuropathies (PN) observed in dogs have clinical similarities to the genetically heterogeneous group of Charcot-Marie-Tooth (CMT) peripheral neuropathies in humans. The canine disorders collectively show a variable expression of progressive clinical signs and ages of onset, and different breed prevalences. Previously in the Leonberger breed, a variant highly associated with a juvenile-onset PN was identified in the canine orthologue of a CMT-associated gene...
August 25, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28841713/processing-of-opa1-with-a-novel-n-terminal-mutation-in-patients-with-autosomal-dominant-optic-atrophy-escape-from-nonsense-mediated-decay
#15
Aneta Ścieżyńska, Ewelina Ruszkowska, Kamil Szulborski, Katarzyna Rydz, Joanna Wierzbowska, Joanna Kosińska, Marek Rękas, Rafał Płoski, Jacek Paweł Szaflik, Monika Ołdak
Autosomal Dominant Optic Atrophy (ADOA) is the most common dominantly inherited optic neuropathy. In the majority of patients it is caused by OPA1 mutations and those predicted to introduce a premature termination codon (PTC) are frequently detected. Transcripts containing PTC may be degraded by nonsense-mediated mRNA decay (NMD), however very little is known about an effect of OPA1 mutations on NMD activation. Here, using a combination of linkage analysis and DNA sequencing, we have identified a novel c.91C>T OPA1 mutation with a putative premature stop codon (Q31*), which segregated with ADOA in two Polish families...
2017: PloS One
https://www.readbyqxmd.com/read/28837503/therapeutic-potential-for-leukocyte-elastase-in-chronic-pain-states-harboring-a-neuropathic-component
#16
Kiran Kumar Bali, Rohini Kuner
Neuropathic pain is an integral component of several chronic pain conditions and poses a major health problem worldwide. Despite emerging understanding of mechanisms behind neuropathic pain, the available treatment options are still limited in efficacy or associated with side effects, therefore making it necessary to find viable alternatives. In a genetic screen, we recently identified SerpinA3N, a serine protease inhibitor secreted in response to nerve damage by the DRG neurons and we showed that SerpinA3N acts against induction of neuropathic pain by inhibiting the T-cell- and neutrophil-derived protease, leucocyte elastase (LE)...
August 19, 2017: Pain
https://www.readbyqxmd.com/read/28837387/crmp2-is-necessary-for-neurofibromatosis-type-1-related-pain
#17
Aubin Moutal, Song Cai, Shizhen Luo, Raphaëlle Voisin, Rajesh Khanna
Neurofibromatosis type 1 (NF1) is one of the most common genetic diseases, affecting roughly 1 in 3000 individuals. As a multisystem disorder, it affects cognitive development, as well as bone, nerve and muscle constitution. Peripheral neuropathy in NF1 constitutes a potentially severe clinical complication and is associated with increased morbidity and mortality. The discovery of effective therapies for Neurofibromatosis type 1 (NF1) pain depends on mechanistic understanding that has been limited, in part, by the relative lack of availability of animal models relevant to NF1 pain...
August 24, 2017: Channels
https://www.readbyqxmd.com/read/28828227/a-novel-p-t139m-mutation-in-hspb1-highlighting-the-phenotypic-spectrum-in-a-family
#18
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/28817461/risk-factors-and-outcomes-of-thalidomide-induced-peripheral-neuropathy-in-a-pediatric-inflammatory-bowel-disease-cohort
#19
Matteo Bramuzzo, Gabriele Stocco, Marcella Montico, Serena Arrigo, Angela Calvi, Paola Lanteri, Stefano Costa, Salvatore Pellegrino, Giuseppe Magazzù, Jacopo Barp, Silvia Ghione, Paolo Lionetti, Giovanna Zuin, Massimo Fontana, Teresa Di Chio, Giuseppe Maggiore, Marzia Lazzerini, Marianna Lucafò, Chiara Udina, Maria Chiara Pellegrin, Andrea Chicco, Marco Carrozzi, Giuliana Decorti, Alessandro Ventura, Stefano Martelossi
BACKGROUND: Thalidomide is an effective therapy in children with inflammatory bowel disease refractory to standard treatments, but thalidomide-induced peripheral neuropathy (TiPN) limits its long-term use. We aimed to investigate the risk factors and the outcome of TiPN in children with inflammatory bowel disease. METHODS: Within a retrospective multicenter cohort study, we evaluated prevalence and evolution of TiPN. Clinical data and candidate genetic profiles of patients with and without TiPN were compared with detect predisposing factors...
August 16, 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28810241/molecular-epidemiology-of-charcot-marie-tooth-disease-in-northern-ostrobothnia-finland-a-population-based-study
#20
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
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