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Congenital polyneuropathy

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https://www.readbyqxmd.com/read/27891585/novel-mutations-in-kars-cause-hypertrophic-cardiomyopathy-and-combined-mitochondrial-respiratory-chain-defect
#1
Daniela Verrigni, Daria Diodato, Michela Di Nottia, Alessandra Torraco, Emanuele Bellacchio, Teresa Rizza, Giulia Tozzi, Margherita Verardo, Fiorella Piemonte, Giorgio Tasca, Adele D'Amico, Enrico Bertini, Rosalba Carrozzo
Mutations in KARS, which encodes for both mitochondrial and cytoplasmic lysyl-tRNA synthethase, have been so far associated with three different phenotypes: the recessive form of Charcot Mary-Tooth polyneuropathy, the autosomal recessive non-syndromic hearing loss and the last recently described condition related to congenital visual impairment and progressive microcephaly. Here we report the case of a 14-years-old-girl with severe cardiomyopathy associated to mild psychomotor delay and mild myopathy; moreover, a diffuse reduction of cytochrome C oxidase (COX, complex IV) and a combined enzymatic defect of complex I (CI) and IV (CIV) was evident in muscle biopsy...
November 28, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27527917/combined-heart-liver-transplantation-indications-outcomes-and-current-experience
#2
REVIEW
Eliza W Beal, Khalid Mumtaz, Don Hayes, Bryan A Whitson, Sylvester M Black
Combined heart-liver transplantation is a rare, life-saving procedure that treats complex and often fatal diseases including familial amyloidosis polyneuropathy and late stage congenital heart disease status-post previous repair. There were 159 combined heart-liver transplantations performed between January 1, 1988 and October 3, 2014 in the United States. A multitude of potential techniques to be used for combined heart and liver transplant including: orthotopic heart transplant (OHT) and orthotopic liver transplant (OLT) on full cardiopulmonary bypass (CPB), OHT with CPB and OLT with venovenous bypass (VVB), OHT with CPB and OLT without VVB, en-bloc technique and sequential transplantation...
October 2016: Transplantation Reviews
https://www.readbyqxmd.com/read/27150940/recessive-optic-atrophy-sensorimotor-neuropathy-and-cataract-associated-with-novel-compound-heterozygous-mutations-in-opa1
#3
Jinho Lee, Sung-Chul Jung, Young Bin Hong, Jeong Hyun Yoo, Heasoo Koo, Ja Hyun Lee, Hyun Dae Hong, Sang-Beom Kim, Ki Wha Chung, Byung-Ok Choi
Mutations in the optic atrophy 1 gene (OPA1) are associated with autosomal dominant optic atrophy and 20% of patients demonstrate extra-ocular manifestations. In addition to these autosomal dominant cases, only a few syndromic cases have been reported thus far with compound heterozygous OPA1 mutations, suggestive of either recessive or semi‑dominant patterns of inheritance. The majority of these patients were diagnosed with Behr syndrome, characterized by optic atrophy, ataxia and peripheral neuropathy. The present study describes a 10-year-old boy with Behr syndrome presenting with early‑onset severe optic atrophy, sensorimotor neuropathy, ataxia and congenital cataracts...
July 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/25988079/acute-motor-axonal-neuropathy-in-a-patient-with-prolonged-cd4-depletion-due-to-hiv-a-local-variant-of-macrophage-activation-syndrome
#4
Christopher Dardis
Acute inflammatory demyelinating polyneuropathy or Guillain-Barré syndrome is well recognized as a presenting feature of human immunodeficiency virus (HIV) seroconversion and, to a lesser extent, as a complication of HIV infection, particularly immune reconstitution. Acute motor axonal neuropathy (AMAN) is much rarer in this setting. A case is presented of acute motor neuropathy, with features most consistent with AMAN in the setting of congenital HIV and prolonged non-compliance with antiretroviral treatment...
February 2015: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/25927242/46-xy-gonadal-dysgenesis-due-to-a-homozygous-mutation-in-desert-hedgehog-dhh-identified-by-exome-sequencing
#5
Ralf Werner, Hartmut Merz, Wiebke Birnbaum, Louise Marshall, Tatjana Schröder, Benedikt Reiz, Jennifer M Kavran, Tobias Bäumer, Philipp Capetian, Olaf Hiort
BACKGROUND: 46,XY disorders of sex development (DSD) comprise a heterogeneous group of congenital conditions. Mutations in a variety of genes can affect gonadal development or androgen biosynthesis/action and thereby influence the development of the internal and external genital organs. OBJECTIVE: The objective of the study was to identify the genetic cause in two 46,XY sisters of a consanguineous family with DSD and gonadal tumor formation. METHODS: We used a next-generation sequencing approach by exome sequencing...
July 2015: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/25873783/charcot-marie-tooth-4b2-caused-by-a-novel-mutation-in-the-mtmr13-sbf2-gene-in-two-related-portuguese-families
#6
Luís Negrão, Luciano Almendra, Joana Ribeiro, Anabela Matos, Argemiro Geraldo, Jorge Pinto-Basto
INTRODUCTION: CMT4B2 is a rare subtype of CMT caused by pathogenic mutations in the myotubularin-related protein-13/set binding factor 2 (MTMR13/SBF2) gene. Nerve conduction velocities are markedly reduced and focally folded myelin sheaths are present on nerve biopsies. We presented two patients from two related Portuguese families with peripheral neuropathy caused by a novel mutation in the MTMR13/SBF2 gene. CASE REPORT: Family 1: Patient 1: A 30-year-old woman, with disease onset in early childhood presented pes cavus and hammertoes and walked with a steppage gait...
December 2014: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/25482575/a-family-with-axonal-sensorimotor-polyneuropathy-with-tubb3-mutation
#7
Young Bin Hong, Ja Hyun Lee, Hyung Jun Park, Yu-Ri Choi, Young Se Hyun, Ji Hoon Park, Heasoo Koo, Ki Wha Chung, Byung-Ok Choi
Mutations in the β‑tubulin isotype III (TUBB3) gene result in TUBB3 syndrome that includes congenital fibrosis of the extraocular muscle type 3 (CFEOM3), intellectual impairments and/or an axonal sensorimotor neuropathy. In the present study, a TUBB3 D417N mutation was identified in a family with axonal sensorimotor polyneuropathy by whole exome sequencing. The proband exhibited gait disturbance at the age of 12 years and was wheelchair bound at 40 years. However, the proband's cousin exhibited gait disabilities at 45 years of age and was still able to walk when he was 60 years old...
April 2015: Molecular Medicine Reports
https://www.readbyqxmd.com/read/24943079/-familial-progressive-external-opthalmoplegia-parkinsonism-and-polyneuropathy-associated-with-polg1-mutation
#8
REVIEW
Masako Mukai, Keizo Sugaya, Shiro Matsubara, Huaying Cai, Ichiro Yabe, Hidenao Sasaki, Imaharu Nakano
Multiple mitochondrial DNA (mtDNA) deletions usually occur secondarily to a mutation in one of the enzymes involved in mtDNA maintenance, such as polymerase γ, which is encoded by the nuclear polymerase γ1 gene (POLG1) and POLG2. Patients with multiple mtDNA deletion disorders show clinical heterogeneity of symptoms, in addition to usually seen progressive external ophthalmoplegia (PEO). We conducted clinical, histological and genetic analyses of two affected sisters in a family with the autosomal dominant inheritance pattern of PEO...
2014: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/24486223/atlas-shrugged-cervical-myelopathy-caused-by-congenital-atlantoaxial-dislocation-aggravated-by-child-labor
#9
Roneil N Parikh, Mamta Muranjan, Sunil Karande, Shilpa Sankhe
BACKGROUND: Symptomatic atlantoaxial dislocation is common in predisposing genetic or acquired disorders. However, an isolated atlantoaxial dislocation frequently is congenital and silent unless discovered during course of evaluation for neurological symptoms of cervical spinal cord injury attributed to minor or chronic, repetitive trauma. PATIENT: A 12-year-old girl working as a farm laborer developed calf pain provoked by walking, which increased in severity and progressed to involve the upper limbs...
April 2014: Pediatric Neurology
https://www.readbyqxmd.com/read/24259772/electrophysiological-evaluation-of-chronic-inflammatory-demyelinating-polyneuropathy-and-charcot-marie-tooth-type-1-dispersion-and-correlation-analysis
#10
Ji Hyuk Kang, Hye Jeong Kim, Eun Ryeong Lee
[Purpose] The purpose of this study was to analyze and compare electrophysiological characteristics observed in nerve conduction studies (NCS) of chronic inflammatory demyelinating polyneuropathy (CIDP) and Charcot-Marie-Tooth disease type 1 (CMT 1). [Subjects] A differential diagnosis of acquired and congenital demyelinating neuropathies was based on a study of 35 patients with NCS-confirmed CIDP and 30 patients with CMT 1 genetically proven by peripheral myelin protein-22 (PMP-22) gene analysis, pulsed-field gel electrophoresis (PFGE), and Southern blot analysis...
October 2013: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/24094759/-congenital-insensitivity-to-pain-clinical-and-neurophysiological-study-in-three-sisters-of-a-moroccan-family
#11
N Kissani, H Krrati, G Alarcon, H Belaaidi, R Ouazzani
Congenital insensitivity to pain is a rare hereditary sensory and autonomic neuropathy (HSAN). This disorder is an autosomal recessive condition: since 1996, mutations attributed to this entity have been found in the neurotrophin tyrosine-kinase gene receptor on chromosome 1. The authors report 3 cases of congenital insensitivity to pain. In these 3 sisters of consanguineous parents, the clinical investigation showed total absence of pain and temperature sensations with preservation of all other sensory modalities, mental retardation, but in contrast to HSAN type IV, there was no anhidrosis...
November 2013: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/23938035/adult-centronuclear-myopathies-a-hospital-based-study
#12
A Echaniz-Laguna, V Biancalana, J Böhm, C Tranchant, J-L Mandel, J Laporte
INTRODUCTION: Centronuclear myopathies (CNM) are rare inherited disorders characterized by nuclei placed in rows in the central part of the muscle fibres. Three CNM-causing genes have been identified, with MTM1 mutations provoking X-linked myotubular myopathy, DNM2 mutations provoking autosomal dominant (AD) CNM, and BIN1 mutations provoking autosomal recessive (AR) CNM. METHODS: In this retrospective monocentric study, we describe 14 adult patients (age>18 years) diagnosed with CNM in our hospital in the 2000-2012 interval...
August 2013: Revue Neurologique
https://www.readbyqxmd.com/read/23718178/laryngeal-paralysis-in-dogs-an-update-on-recent-knowledge
#13
REVIEW
Adriaan M Kitshoff, Bart Van Goethem, Ludo Stegen, Peter Vandekerckhov, Hilde de Rooster
Laryngeal paralysis is the effect of an inability to abduct the arytenoid cartilages during inspiration, resulting in respiratory signs consistent with partial airway obstruction. The aetiology of the disease can be congenital (hereditary laryngeal paralysis or congenital polyneuropathy), or acquired (trauma, neoplasia, polyneuropathy, endocrinopathy). The most common form of acquired laryngeal paralysis (LP) is typically seen in old, large breed dogs and is a clinical manifestation of a generalised peripheral polyneuropathy recently referred to as geriatric onset laryngeal paralysis polyneuropathy...
2013: Journal of the South African Veterinary Association
https://www.readbyqxmd.com/read/23622397/congenital-disorders-of-glycosylation
#14
REVIEW
J Jaeken
Congenital disorders of glycosylation (CDG) are genetic diseases due to defects in the synthesis or the attachment of the glycan moiety of glycoproteins and glycolipids. They can be divided into four groups: disorders of protein N-glycosylation, disorders of protein O-glycosylation, disorders of lipid glycosylation, and disorders of other glycosylation pathways and of multiple glycosylation pathways. Of the more than 40 reported CDG, some 80% are neurological or have an important neurological component. By far the most common neurological CDG is phosphomannomutase 2 deficiency...
2013: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/23378218/a-novel-syndrome-caused-by-the-e410k-amino-acid-substitution-in-the-neuronal-%C3%AE-tubulin-isotype-3
#15
Sheena Chew, Ravikumar Balasubramanian, Wai-Man Chan, Peter B Kang, Caroline Andrews, Bryn D Webb, Sarah E MacKinnon, Darren T Oystreck, Jessica Rankin, Thomas O Crawford, Michael Geraghty, Scott L Pomeroy, William F Crowley, Ethylin Wang Jabs, David G Hunter, Patricia E Grant, Elizabeth C Engle
Missense mutations in TUBB3, the gene that encodes the neuronal-specific protein β-tubulin isotype 3, can cause isolated or syndromic congenital fibrosis of the extraocular muscles, a form of complex congenital strabismus characterized by cranial nerve misguidance. One of the eight TUBB3 mutations reported to cause congenital fibrosis of the extraocular muscles, c.1228G>A results in a TUBB3 E410K amino acid substitution that directly alters a kinesin motor protein binding site. We report the detailed phenotypes of eight unrelated individuals who harbour this de novo mutation, and thus define the 'TUBB3 E410K syndrome'...
February 2013: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/22938382/targeted-next-generation-sequencing-identifies-a-homozygous-nonsense-mutation-in-abhd12-the-gene-underlying-pharc-in-a-family-clinically-diagnosed-with-usher-syndrome-type-3
#16
Tobias Eisenberger, Rima Slim, Ahmad Mansour, Markus Nauck, Gudrun Nürnberg, Peter Nürnberg, Christian Decker, Claudia Dafinger, Inga Ebermann, Carsten Bergmann, Hanno Jörn Bolz
BACKGROUND: Usher syndrome (USH) is an autosomal recessive genetically heterogeneous disorder with congenital sensorineural hearing impairment and retinitis pigmentosa (RP). We have identified a consanguineous Lebanese family with two affected members displaying progressive hearing loss, RP and cataracts, therefore clinically diagnosed as USH type 3 (USH3). Our study was aimed at the identification of the causative mutation in this USH3-like family. METHODS: Candidate loci were identified using genomewide SNP-array-based homozygosity mapping followed by targeted enrichment and next-generation sequencing...
2012: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/22789857/myopathy-associated-with-congenital-fibre-type-disproportion-in-a-young-dog
#17
S Rodenas, L T Guo, G D Shelton
A 4-month-old, female collie-cross dog was presented for evaluation of slowly progressive weakness, exercise intolerance and muscle atrophy. Neurological examination and electrodiagnostic testing were consistent with a generalized myopathy or, less likely, an axonal polyneuropathy. Muscle biopsy samples revealed marked variability in myofibre size with scattered or clustered atrophic or hypotrophic type 1 fibres. Type 1 fibres were 65% smaller than type 2A fibres and the percentage of type 1 fibres exceeded reference values for both limb muscles examined...
November 2012: Journal of Comparative Pathology
https://www.readbyqxmd.com/read/22427291/phenotypic-heterogeneity-in-hereditary-motor-neuropathy-type-v-a-new-case-report-series
#18
Manuela Pennisi, Alberto Raggi, Rita Barone, Maria Muglia, Luigi Citrigno, Mariagiovanna Cantone, Giuseppe Lanza, Giovanni Pennisi, Raffaele Ferri, Rita Bella
Previous studies have revealed a wide phenotypic heterogeneity in hereditary motor neuropathy type V in which upper and lower motor neurons and peripheral motor axons are variously affected, even within the same family. In this case series, we describe the genetic, clinical and electrophysiological features of patients belonging to a four-generation Italian family. Because of a possible anticipation phenomenon, the disorder became apparent at an earlier age as it passed to the next generation, with a median age of onset of 65 years for the first 2 generations, 32 for the third, and 13...
March 2012: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/22393170/a-serine-synthesis-defect-presenting-with-a-charcot-marie-tooth-like-polyneuropathy
#19
Aurélie Méneret, Elsa Wiame, Cecilia Marelli, Timothée Lenglet, Emile Van Schaftingen, Frédéric Sedel
BACKGROUND: Serine synthesis defects, characterized by developmental delay and seizures, have been described in children. OBJECTIVE: To describe a case of serine synthesis defect due to 3-phosphoglycerate dehydrogenase deficiency in an adult with prominent chronic polyneuropathy. DESIGN: Case report. SETTING: Neurologic referral center. PATIENT: A 31-year-old man with congenital cataracts, mild psychomotor retardation, slight cerebellar ataxia, and chronic axonal sensorimotor polyneuropathy...
July 2012: Archives of Neurology
https://www.readbyqxmd.com/read/22378666/peripheral-nerve-involvement-in-fukuyama-congenital-muscular-dystrophy-a-case-report
#20
Dae-Hyun Jang, In Young Sung, Tae Sung Ko
Fukuyama congenital muscular dystrophy is characterized by generalized muscle weakness and disturbances in central nervous system migration. Although this disorder is caused by mutations in the fukutin gene, which encodes a protein associated with the hypoglycosylation of α-dystroglycan, the specific functions of fukutin protein are largely unknown. In addition to being found in muscle and brain, α-dystroglycan is expressed in various other tissues including peripheral nerves, suggesting that deficiencies in fukutin may result in abnormal myelination of peripheral nerves due to the aberrant glycosylation of Schwann cell α-dystroglycan...
January 2013: Journal of Child Neurology
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