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hereditary neuropathy

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https://www.readbyqxmd.com/read/28221308/intravenous-immunoglobulin-in-treatment-of-hereditary-neuropathy-with-liability-to-pressure-palsy
#1
Zhong Hong Liew, Yew Long Lo
No abstract text is available yet for this article.
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28221301/electrodiagnostic-characterization-of-hereditary-neuropathy-with-liability-to-pressure-palsies
#2
Sachiko Takahashi, Marvin Chum, Kurt Kimpinski
OBJECTIVES: The study objective was electrodiagnostic characterization of a large cohort of patients with genetically confirmed hereditary neuropathy with liability to pressure palsies (HNPP). METHODS: A retrospective review was conducted on all patients with HNPP seen at the neuromuscular clinic (London, Canada) from 1977 to 2015. Clinical data obtained included patient characteristics, examination findings, and nerve conduction study results. RESULTS: A total of 46 patients were analyzed...
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28214652/unilateral-oculomotor-palsy-in-charcot-marie-tooth-disease-1a-cmt-1a
#3
A Posa, A Emmer, M E Kornhuber
BACKGROUND: Charcot-Marie-Tooth disease (CMT) type 1A is the most common form of CMT 1 and one of the autosomal dominant demyelinating hereditary motor and sensory neuropathies (HMSN). Cranial nerves may be frequently subclinically affected in CMT disease. However manifest clinical signs of cranial nerve involvement are rare. METHODS: This case comprise neurological, ophthalmological, internal medicine and ear-nose-throat investigation, motor and sensory nerve conduction velocity, auditory evoked potentials and orbicularis-oculi reflex measurements, lumbar puncture and blood examination, inclusive molecular genetic testing, as well as electrocardiogram and cranial imaging such as computer tomography and magnetic resonance imaging RESULTS: The present case shows a Charcot-Marie-Tooth (CMT) 1A patient with complete unilateral oculomotor palsy in combination with predominant ipsilateral subclinical trigeminal demyelination...
February 13, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28213611/transthyretin-amyloidosis-an-under-recognized-neuropathy-and-cardiomyopathy
#4
REVIEW
Natalie J Galant, Per Westermark, Jeffrey N Higaki, Avijit Chakrabartty
Transthyretin (TTR) amyloidosis (ATTR amyloidosis) is an underdiagnosed and important type of cardiomyopathy and/or polyneuropathy that requires increased awareness within the medical community. Raising awareness among clinicians about this type of neuropathy and lethal form of heart disease is critical for improving earlier diagnosis and the identification of patients for treatment. The following review summarizes current criteria used to diagnose both hereditary and wild-type ATTR (ATTRwt) amyloidosis, tools available to clinicians to improve diagnostic accuracy, available and newly developing therapeutics, as well as a brief biochemical and biophysical background of TTR amyloidogenesis...
March 1, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28211240/phenotypic-spectrum-of-charcot-marie-tooth-disease-due-to-litaf-simple-mutations-a-study-of-18-patients
#5
R Guimarães-Costa, R Iancu Ferfoglia, S Leonard-Louis, F Ziegler, L Magy, E Fournier, O Dubourg, P Bouche, T Maisonobe, A Lacour, A Moerman, P Latour, T Stojkovic
BACKGROUND AND PURPOSE: Charcot-Marie-Tooth (CMT) 1C due to mutations in LITAF/SIMPLE is a rare subtype amongst the autosomal dominant demyelinating forms of CMT. Our objective was to report the clinical and electrophysiological characteristics of 18 CMT1C patients and compare them to 20 patients with PMP22 mutations: 10 CMT1A patients and 10 patients with hereditary neuropathy with liability to pressure palsies (HNPP). METHODS: Charcot-Marie-Tooth 1C patients were followed-up in referral centres for neuromuscular diseases or were identified by familial survey...
March 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28202889/treatment-of-transthyretin-familial-amyloid-polyneuropathy-with-tafamidis-a-case-report
#6
Yoshimichi Miyazaki
INTRODUCTION: Familial amyloid polyneuropathy (FAP) is a rare hereditary disorder caused by mutations in the transthyretin (TTR) gene. Tafamidis is a TTR stabilizer able to prevent TTR tetramer dissociation, and several studies have demonstrated its safety and efficacy at slowing the progression of neuropathy in FAP caused by the TTR Val30Met mutation. However, nerve conduction study (NCS) and electromyography (EMG) results have yet to be reported in relation to FAP progression during tafamidis therapy...
2017: Nihon Ronen Igakkai Zasshi. Japanese Journal of Geriatrics
https://www.readbyqxmd.com/read/28196731/natural-history-of-conversion-of-leber-s-hereditary-optic-neuropathy-a-prospective-case-series
#7
Tiffany Jean Hwang, Rustum Karanjia, Milton Nunes Moraes-Filho, Jesse Gale, Jeffrey Show Tran, Edward R Chu, Solange R Salomao, Adriana Berezovsky, Rubens Belfort, Milton Nunes Moraes, Federico Sadun, Anna Maria DeNegri, Chiara La Morgia, Piero Barboni, Carolina do V F Ramos, Carlos Filipe Chicani, Peter A Quiros, Valerio Carelli, Alfredo A Sadun
PURPOSE: To illustrate the natural history of Leber's hereditary optic neuropathy (LHON). DESIGN: Prospective observational case series. PARTICIPANTS: The Soave-Brazil pedigree of m.11778G>A/ND4 mitochondrial DNA LHON mutation. METHODS: A prospectively acquired database of the Soave-Brazil pedigree was reviewed. Data from 285 individuals were included in the database over a 15-year period. The pedigree was reviewed for unaffected mutation carriers who converted to affected status, 6 patients with LHON were identified...
February 10, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28196470/proteasome-impairment-in-neural-cells-derived-from-hmsn-p-patient-ipscs
#8
Nagahisa Murakami, Keiko Imamura, Yuishin Izumi, Naohiro Egawa, Kayoko Tsukita, Takako Enami, Takuya Yamamoto, Toshitaka Kawarai, Ryuji Kaji, Haruhisa Inoue
Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is caused by a heterozygous mutation (P285L) in Tropomyosin-receptor kinase Fused Gene (TFG), histopathologically characterized by progressive spinal motor neuron loss with TFG cytosolic aggregates. Although the TFG protein, found as a type of fusion oncoprotein, is known to facilitate vesicle transport from endoplasmic reticulum (ER) to Golgi apparatus at ER exit site, it is unclear how mutant TFG causes motor neuron degeneration...
February 15, 2017: Molecular Brain
https://www.readbyqxmd.com/read/28186610/-progress-in-research-on-pathogenic-genes-and-gene-therapy-for-inherited-retinal-diseases
#9
Ling Zhu, Cong Cao, Jiji Sun, Tao Gao, Xiaoyang Liang, Zhipeng Nie, Yanchun Ji, Pingping Jiang, Minxin Guan
Inherited retinal diseases (IRDs), including retinitis pigmentosa, Usher syndrome, Cone-Rod degenerations, inherited macular dystrophy, Leber's congenital amaurosis, Leber's hereditary optic neuropathy are the most common and severe types of hereditary ocular diseases. So far more than 200 pathogenic genes have been identified. With the growing knowledge of the genetics and mechanisms of IRDs, a number of gene therapeutic strategies have been developed in the laboratory or even entered clinical trials. Here the progress of IRD research on the pathogenic genes and therapeutic strategies, particularly gene therapy, are reviewed...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28177573/novel-ntrk1-mutations-associated-with-congenital-insensitivity-to-pain-with-anhidrosis-verified-by-functional-studies
#10
Tai-Seung Nam, Wenting Li, Somy Yoon, Gwang Hyeon Eom, Myeong-Kyu Kim, Sung Taek Jung, Seok-Yong Choi
Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV (HSAN-IV), features loss of pain sensation, decreased or absent sweating (anhidrosis), recurrent episodes of unexplained fever, self-mutilating behavior and variable mental retardation. Mutations in neurotrophic receptor tyrosine kinase 1 (NTRK1) have been reported to be associated with CIPA. We identified four novel NTRK1 mutations in six Korean patients from four unrelated families. Of the four mutations, we demonstrated using a splicing assay that IVS14+3A>T causes aberrant splicing of NTRK1 mRNA, leading to introduction of a premature termination codon...
February 8, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28167615/the-familial-dysautonomia-disease-gene-ikbkap-elp1-is-required-in-the-developing-and-adult-central-nervous-system
#11
Marta Chaverra, Lynn George, Marc Mergy, Hannah Waller, Katharine Kujawa, Connor Murnion, Ezekiel Sharples, Julian Thorne, Nathaniel Podgajny, Andrea Grindeland, Yumi Ueki, Steven Eiger, Cassie Cusick, A Michael Babcock, George A Carlson, Frances Lefcort
Hereditary sensory and autonomic neuropathies (HSANs) are a genetically and clinically diverse group of disorders defined by peripheral nervous system (PNS) dysfunction. HSAN Type III, Familial Dysautonomia (FD), results from a single base mutation in the gene IKBKAP that encodes a scaffolding unit for a multi-subunit complex Elongator. Since mutations in other Elongator subunits (ELP2-4) are associated with central nervous system (CNS) disorders, the goal of this study was to investigate a potential CNS requirement for Ikbkap/Elp1 The sensory and autonomic pathophysiology of FD is fatal, with the majority of patients dying by age 40...
February 6, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28165391/charcot-marie-tooth-2b-peripheral-sensory-neuropathy-how-rab7-mutations-impact-ngf-signaling
#12
REVIEW
Harry Liu, Chengbiao Wu
Charcot-Marie-Tooth 2B peripheral sensory neuropathy (CMT2B) is a debilitating autosomal dominant hereditary sensory neuropathy. Patients with this disease lose pain sensation and frequently need amputation. Axonal dysfunction and degeneration of peripheral sensory neurons is a major clinical manifestation of CMT2B. However, the cellular and molecular pathogenic mechanisms remain undefined. CMT2B is caused by missense point mutations (L129F, K157N, N161T/I, V162M) in Rab7 GTPase. Strong evidence suggests that the Rab7 mutation(s) enhances the cellular levels of activated Rab7 proteins, thus resulting in increased lysosomal activity and autophagy...
February 4, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28144995/axonal-neuropathies-due-to-mutations-in-small-heat-shock-proteins-clinical-genetic-and-functional-insights-into-novel-mutations
#13
Andoni Echaniz-Laguna, Thomas Geuens, Philippe Petiot, Yann Péréon, Elias Adriaenssens, Mansour Haidar, Simona Capponi, Thierry Maisonobe, Emmanuel Fournier, Odile Dubourg, Bertrand Degos, François Salachas, Timothée Lenglet, Bruno Eymard, Emilien Delmont, Jean Pouget, Raoul Morales, Cyril Goizet, Philippe Latour, Vincent Timmerman, Tanya Stojkovic
In this study, we describe the phenotypic spectrum of distal hereditary motor neuropathy caused by mutations in the small heat shock proteins HSPB1 and HSPB8 and investigate the functional consequences of newly discovered variants. Among 510 unrelated patients with distal motor neuropathy, we identified mutations in HSPB1 (28 index patients/510; 5.5%) and HSPB8 (4 index patients/510; 0.8%) genes. Patients have slowly progressive distal (100%) and proximal (13%) weakness in lower limbs (100%), mild lower limbs sensory involvement (31%), foot deformities (73%), progressive distal upper limb weakness (29%), mildly raised serum creatine kinase levels (100%) and central nervous system involvement (9%)...
February 1, 2017: Human Mutation
https://www.readbyqxmd.com/read/28142161/leber-s-hereditary-optic-neuropathy-normal-tension-glaucoma-and-flammer-syndrome-long-term-follow-up-of-a-patient
#14
K Konieczka, J Flammer, J Sternbuch, T Binggeli, S Fraenkl
No abstract text is available yet for this article.
January 31, 2017: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/28139165/leber-hereditary-optic-neuropathy-due-to-a-new-nd1-mutation
#15
Patrick Soldath, Marianne Wegener, Birgit Sander, Thomas Rosenberg, Morten Duno, Flemming Wibrand, John Vissing
We report a proband with Leber hereditary optic neuropathy (LHON), in whom we have identified a novel homoplasmic m.3,395A>G mutation in the ND1 gene. The mutation alters a highly conserved amino acid in codon 30 which previously has been associated with LHON and leads to a severe selective complex I deficiency. By providing further evidence for pathogenicity we conclude that m.3,395A>G is pathogenic. High definition optical coherence tomography of the retina and peripapillary retinal nerve fiber layer (pRNFL) confirms recent reports that retinal ganglion cell loss precedes axonal loss in LHON and is present in the early stage of the disease...
January 31, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28131554/-hereditary-neuropathy-with-liability-to-pressure-palsies-in-childhood-report-of-three-cases
#16
C Bar, F Villéga, C Espil, M Husson, J-M Pedespan, M-F Rouanet
Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant neuropathy. It is characterized by recurrent sensory and motor nerve palsies, usually precipitated by minor trauma or compression. Even though rare in childhood, this disorder is probably underdiagnosed given its wide spectrum of clinical symptoms. We review three separate cases of HNPP diagnosed in children with various phenotypes: fluctuating and distal paresthesias disrupting learning at school, cramps related to intensive piano practice, and discrete muscle weakness with no functional complaint...
January 25, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28128056/review-treatment-of-leber-s-hereditary-optic-neuropathy
#17
Rustum Karanjia, Jasdeep Chahal, Michael Ammar, Alfredo A Sadun
Leber's hereditary optic neuropathy (LHON) is a rare mitochondrial disease of complex I of the respiratory chain. Patients typically present with subacute vision loss in one eye followed by the loss of vision in the second eye approximately 4-8 weeks later, ultimately leading to blindness. Therapeutic interventions have so far failed to prevent this vision loss; however, there has been recent interest in new managements for this prototypic mitochondrial disease. A review of the literature was performed and articles were identified using PubMed (the search terms LHON and treatment were used)...
January 25, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28093355/evaluating-the-therapeutic-potential-of-idebenone-and-related-quinone-analogues-in-leber-hereditary-optic-neuropathy
#18
Patrick Yu-Wai-Man, Devorah Soiferman, David G Moore, Florence Burté, Ann Saada
Leber hereditary optic neuropathy (LHON) is an important cause of mitochondrial blindness among young adults. In this study, we investigated the potential of four quinone analogues (CoQ1, CoQ10, decylubiquinone and idebenone) in compensating for the deleterious effect of the m.11778G>A mitochondrial DNA mutation. The LHON fibroblast cell lines tested exhibited reduced cell growth, impaired mitochondrial bioenergetics and elevated levels of reactive oxygen species (ROS). Idebenone increased ATP production and reduced ROS levels, but the effect was partial and cell-specific...
January 16, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28081242/genetic-and-clinical-analyses-of-doa-and-lhon-in-304-chinese-patients-with-suspected-childhood-onset-hereditary-optic-neuropathy
#19
Yadi Li, Jie Li, Xiaoyun Jia, Xueshan Xiao, Shiqiang Li, Xiangming Guo
Leber hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA), the most common forms of hereditary optic neuropathy, are easily confused, and it is difficult to distinguish one from the other in the clinic, especially in young children. The present study was designed to survey the mutation spectrum of common pathogenic genes (OPA1, OPA3 and mtDNA genes) and to analyze the genotype-phenotype characteristics of Chinese patients with suspected childhood-onset hereditary optic neuropathy. Genomic DNA and clinical data were collected from 304 unrelated Chinese probands with suspected hereditary optic neuropathy with an age of onset below 14 years...
2017: PloS One
https://www.readbyqxmd.com/read/28078992/smoking-and-eye-pathologies-a-systemic-review-part-ii-retina-diseases-uveitis-optic-neuropathies-thyroid-associated-orbitopathy
#20
Małgorzata Nita, Andrzej Grzybowski
BACKGROUND: Tobacco smoking has detrimental influence on human health. AIM: The analysis of influence of tobacco smoking on retina diseases, uveitis, optic neuropathies, and thyroid-associated orbitopathy in adults and children. METHODS: A comprehensive review of the literature performed through MEDLINE and PubMed searches, covering the years 2000-2016. RESULTS: In adults, tobacco smoking is a strong risk factor for age-related macular degeneration, polypoidal choroidal vasculopathy, uveitis and inflamed cystoid macular edema as well as Grave`s ophthalmopathy...
January 10, 2017: Current Pharmaceutical Design
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