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hereditary neuropathies

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https://www.readbyqxmd.com/read/29778900/hereditary-sensory-neuropathy-type-1-associated-deoxysphingolipids-cause-neurotoxicity-acute-calcium-handling-abnormalities-and-mitochondrial-dysfunction-in-vitro
#1
Emma R Wilson, Umaiyal Kugathasan, Andrey Y Abramov, Alex J Clark, David L H Bennett, Mary M Reilly, Linda Greensmith, Bernadett Kalmar
Hereditary sensory neuropathy type 1 (HSN-1) is a peripheral neuropathy most frequently caused by mutations in the SPTLC1 or SPTLC2 genes, which code for two subunits of the enzyme serine palmitoyltransferase (SPT). SPT catalyzes the first step of de novo sphingolipid synthesis. Mutations in SPT result in a change in enzyme substrate specificity, which causes the production of atypical deoxysphinganine and deoxymethylsphinganine, rather than the normal enzyme product, sphinganine. Levels of these abnormal compounds are elevated in blood of HSN-1 patients and this is thought to cause the peripheral motor and sensory nerve damage that is characteristic of the disease, by a largely unresolved mechanism...
May 17, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29775755/whole-genome-sequencing-and-bioinformatics-analysis-of-two-egyptian-genomes
#2
Mahmoud ElHefnawi, Sungwon Jeon, Youngjune Bhak, Asmaa ElFiky, Ahmed Horaiz, JeHoon Jun, Hyunho Kim, Jong Bhak
We report two Egyptian male genomes (EGP1 and EGP2) sequenced at ~ 30× sequencing depths. EGP1 had 4.7 million variants, where 198,877 were novel variants while EGP2 had 209,109 novel variants out of 4.8 million variants. The mitochondrial haplogroup of the two individuals were identified to be H7b1 and L2a1c, respectively. We also identified the Y haplogroup of EGP1 (R1b) and EGP2 (J1a2a1a2 > P58 > FGC11). EGP1 had a mutation in the NADH gene of the mitochondrial genome ND4 (m.11778 G > A) that causes Leber's hereditary optic neuropathy...
May 15, 2018: Gene
https://www.readbyqxmd.com/read/29774306/leber-s-hereditary-optic-neuropathy-lhon-in-an-apulian-cohort-of-subjects
#3
Angelica Bianco, Luigi Bisceglia, Paolo Trerotoli, Luciana Russo, Leonardo D'Agruma, Silvana Guerriero, Vittoria Petruzzella
Leber's hereditary optic neuropathy (LHON) is a maternally inherited disorder that causes severe loss of sight in young adults, and is typically associated to mitochondrial DNA (mtDNA) mutations. Heteroplasmy of primary LHON mutations, presence of 'ancillary' mtDNA mutations, and mtDNA copy number are probably correlated with the penetrance and the severity of the disease. In this study, we performed a mutational screening in an Apulian cohort of LHON patients and we found that 41 out of 54 subjects harbored the m...
September 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29771891/-leber-hereditary-optic-neuropathy
#4
I O Mazunin, N V Volodko
Leber hereditary optic neuropathy is characterized by bilateral, painless loss of vision in children and young adults (generally up to 25 years old). Since its first description in 1871, the understanding of its etiology and pathogenesis has improved considerably. The article considers Leber neuropathy from the points of view of ophthalmology, neurology and molecular genetics, and presents data on experimental treatment methods, one of which is undergoing clinical trial.
2018: Vestnik Oftalmologii
https://www.readbyqxmd.com/read/29771329/regulation-of-the-neuropathy-associated-pmp22-gene-by-a-distal-super-enhancer
#5
Harrison Pantera, John J Moran, Holly A Hung, Evgenia Pak, Amalia Dutra, John Svaren
Peripheral nerve myelination is adversely affected in the most common form of the hereditary peripheral neuropathy called Charcot-Marie-Tooth Disease. This form, classified as CMT1A, is caused by a 1.4 Mb duplication on chromosome 17, which includes the abundantly expressed Schwann cell myelin gene, Peripheral Myelin Protein 22 (PMP22). This is one of the most common copy number variants causing neurological disease. Overexpression of Pmp22 in rodent models recapitulates several aspects of neuropathy, and reduction of Pmp22 in such models results in amelioration of the neuropathy phenotype...
May 16, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29769041/cortical-atrophy-and-hypofibrinogenemia-due-to-fgg-and-tbcd-mutations-in-a-single-family-a-case-report
#6
Joshi Stephen, Sheela Nampoothiri, K P Vinayan, Dhanya Yesodharan, Preetha Remesh, William A Gahl, May Christine V Malicdan
BACKGROUND: Blended phenotypes or co-occurrence of independent phenotypically distinct conditions are extremely rare and are due to coincidence of multiple pathogenic mutations, especially due to consanguinity. Hereditary fibrinogen deficiencies result from mutations in the genes FGA, FGB, and FGG, encoding the three different polypeptide chains that comprise fibrinogen. Neurodevelopmental abnormalities have not been associated with fibrinogen deficiencies. In this study, we report an unusual patient with a combination of two independently inherited genetic conditions; fibrinogen deficiency and early onset cortical atrophy...
May 16, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29768202/sensory-neuropathy-causing-mutations-in-atl3-cause-aberrant-er-membrane-tethering
#7
Michiel Krols, Sammy Detry, Bob Asselbergh, Leonardo Almeida-Souza, Anna Kremer, Saskia Lippens, Riet De Rycke, Vicky De Winter, Franz-Josef Müller, Ingo Kurth, Harvey T McMahon, Savvas N Savvides, Vincent Timmerman, Sophie Janssens
The endoplasmic reticulum (ER) is a complex network of sheets and tubules that is continuously remodeled. The relevance of this membrane dynamics is underscored by the fact that mutations in atlastins (ATLs), the ER fusion proteins in mammals, cause neurodegeneration. How defects in this process disrupt neuronal homeostasis is unclear. Using electron microscopy (EM) volume reconstruction of transfected cells, neurons, and patient fibroblasts, we show that hereditary sensory and autonomic neuropathy (HSAN)-causing ATL3 mutants promote aberrant ER tethering hallmarked by bundles of laterally attached ER tubules...
May 15, 2018: Cell Reports
https://www.readbyqxmd.com/read/29750122/analysis-of-visual-field-defects-obtained-with-semiautomated-kinetic-perimetry-in-patients-with-leber-hereditary-optic-neuropathy
#8
Katarzyna Nowomiejska, Agnieszka Kiszka, Edyta Koman-Wierdak, Katarzyna Tonska, Ryszard Maciejewski, Anselm G Jünemann, Robert Rejdak
Purpose: To analyse visual field (VF) defects obtained using semiautomated kinetic perimetry (SKP) in patients suffering from Leber hereditary optic neuropathy (LHON). Methods: Twenty-two eyes of eleven consecutive LHON male patients with confirmed mitochondrial 11778G>A DNA mutation were prospectively examined with the V4e stimulus of SKP in both eyes. The mean time after the onset of LHON was one year. The area of obtained isopters was measured in square degrees (deg2 )...
2018: Journal of Ophthalmology
https://www.readbyqxmd.com/read/29747701/astrocyte-remodeling-without-gliosis-precedes-optic-nerve-axonopathy
#9
Melissa L Cooper, John W Collyer, David J Calkins
Astroyctes serve myriad functions but are especially critical in white matter tracts, where energy-demanding axons propagate action potentials great distances between neurons. Axonal dependence on astrocytes for even normal function accentuates the critical role astrocytes serve during disease. In glaucoma, the most common optic neuropathy, sensitivity to intraocular pressure (IOP) challenges RGC axons early, including degradation of anterograde transport to the superior colliculus (SC). Astrocyte remodeling presages overt axon degeneration in glaucoma and thus may present a therapeutic opportunity...
May 10, 2018: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/29742619/loss-of-function-mutation-in-hippo-suppressed-enlargement-of-lysosomes-and-neurodegeneration-caused-by-dfig4-knockdown
#10
Yukie Kushimura, Yumiko Azuma, Ikuko Mizuta, Yuuka Muraoka, Akane Kyotani, Hideki Yoshida, Takahiko Tokuda, Toshiki Mizuno, Masamitsu Yamaguchi
Charcot-Marie-Tooth disease (CMT) is the most common hereditary neuropathy, and more than 80 CMT-causing genes have been identified to date. CMT4J is caused by a loss-of-function mutation in the Factor-Induced-Gene 4 (FIG4) gene, the product of which plays important roles in endosome-lysosome homeostasis. We hypothesized that Mammalian sterile 20-like kinase (MST) 1 and 2, tumor-suppressor genes, are candidate modifiers of CMT4J. We therefore examined the interaction between dFIG4 and Hippo (hpo), Drosophila counterparts of FIG4 and MSTs, respectively, using the Drosophila CMT4J model with the knockdown of dFIG4...
May 8, 2018: Neuroreport
https://www.readbyqxmd.com/read/29725659/renal-artery-aneurysm-associated-with-leber-hereditary-optic-neuropathy
#11
Ruth Ellen Jones, Jessica Lee, Mujtaba M Ali
Leber hereditary optic neuropathy is an inherited, rare, mitochondrial metabolic disease that leads to progressive vision loss due to the accumulation of reactive oxygen species. The disorder has been associated with microangiopathy and macroangiopathy. We present a novel case of saccular left renal artery aneurysm in a 27-year-old man with known Leber hereditary optic neuropathy. The lesion was asymptomatic and grew from 1.8 to 2.0 cm during the course of 1 year. We successfully performed an endovascular left renal artery aneurysm repair...
March 2018: Journal of Vascular Surgery Cases and Innovative Techniques
https://www.readbyqxmd.com/read/29720801/spinocerebellar-ataxia-21-in-a-turkish-child
#12
Faruk Incecik, Ozlem M Herguner, Patrick Willems, Neslihan O Mungan
Hereditary cerebellar ataxias are genetically heterogeneous disorders. Autosomal recessive spinocerebellar ataxia-21 (SCAR21) is a neurologic disorder characterized by the onset of cerebellar ataxia, recurrent episodes of liver failure, peripheral neuropathy, and learning disabilities. Herein, we reported a case presented with gait and balance problems, swallowing difficulties, mild delayed motor development, and mild learning disability with SCAR21 that confirmed by mutation analysis in a Turkish child. To the best of our knowledge, this is the first case of SCAR21 from Turkey...
January 2018: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/29691480/an-estimation-of-the-prevalence-of-genomic-disorders-using-chromosomal-microarray-data
#13
Madelyn A Gillentine, Philip J Lupo, Pawel Stankiewicz, Christian P Schaaf
Multiple genomic disorders result from recurrent deletions or duplications between low copy repeat (LCR) clusters, mediated by nonallelic homologous recombination. These copy number variants (CNVs) often exhibit variable expressivity and/or incomplete penetrance. However, the population prevalence of many genomic disorders has not been estimated accurately. A subset of genomic disorders similarly characterized by CNVs between LCRs have been studied epidemiologically, including Williams-Beuren syndrome (7q11...
April 24, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29670510/differential-expression-of-several-mirnas-and-the-host-genes-aatk-and-dnm2-in-leukocytes-of-sporadic-als-patients
#14
Katarina Vrabec, Emanuela Boštjančič, Blaž Koritnik, Lea Leonardis, Leja Dolenc Grošelj, Janez Zidar, Boris Rogelj, Damjan Glavač, Metka Ravnik-Glavač
Genetic studies have managed to explain many cases of familial amyotrophic lateral sclerosis (ALS) through mutations in several genes. However, the cause of a majority of sporadic cases remains unknown. Recently, epigenetics, especially miRNA studies, show some promising aspects. We aimed to evaluate the differential expression of 10 miRNAs, including miR-9, miR-338, miR-638, miR-663a, miR-124a, miR-143, miR-451a, miR-132, miR-206, and let-7b, for which some connection to ALS was shown previously in ALS culture cells, animal models or patients, and in three miRNA host genes, including C1orf61 (miR-9), AATK (miR-338), and DNM2 (miR-638), in leukocyte samples of 84 patients with sporadic ALS...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29649796/visual-field-variability-after-gene-therapy-for-leber-s-hereditary-optic-neuropathy
#15
Jia-Jia Yuan, Yong Zhang, Li-Ling Wang, Ming-Shi Cheng, Si-Qi Ma, Qin Gao, Bin Li
PURPOSE: To assess changes in visual field (VF) values after gene therapy for Leber's hereditary optic neuropathy (LHON). METHODS: VF recovery, VF indices, and mean deviation in injected and uninjected eyes, before and after gene therapy, were examined in 2 groups of patients according to disease duration (≤2 years and > 2 years). Nine patients with LHON were treated by monocular intravitreal injection of AAV2-ND4. Finally, 7 patients were considered for subsequent comparisons; the first and second eyes were treated separately...
April 12, 2018: Ophthalmic Research
https://www.readbyqxmd.com/read/29615737/longterm-reversal-of-severe-visual-loss-by-mitochondrial-gene-transfer-in-a-mouse-model-of-leber-hereditary-optic-neuropathy
#16
Hong Yu, Vittorio Porciatti, Alfred Lewin, William Hauswirth, John Guy
In many human disorders mitochondrial dysfunction is central to degeneration of retinal ganglion cells. As these cells do not regenerate, vision is irreversibly lost. Here we show reversal of visual dysfunction by a mitochondrially targeted adeno associated virus in transgenic mice harboring a G11778A mutation in the ND4 subunit of complex I persists longterm and it is associated with reduced loss of RGCs and their axons, improved oxidative phosphorylation, persistence of transferred ND4 DNA and transcription of ND4 mRNA...
April 3, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29614547/-hereditary-auditory-neuropathies-stepping-into-precision-management-from-the-discovery
#17
Q J Wang, Arnold Starr
No abstract text is available yet for this article.
March 7, 2018: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
https://www.readbyqxmd.com/read/29611130/understanding-the-disease-course-and-therapeutic-benefit-of-tafamidis-across-real-world-studies-of-hereditary-transthyretin-amyloidosis-with-polyneuropathy-a-proof-of-concept-for-integrative-data-analytic-approaches
#18
Daniel Serrano, Christopher B Atzinger, Marc F Botteman
INTRODUCTION: Hereditary transthyretin (TTR) amyloidosis with polyneuropathy (hATTR-PN) is a rare, autosomal dominant amyloidosis characterized primarily by progressive ascending sensorimotor neuropathy often associated with  autonomic involvement. hATTR-PN is caused by a mutation in the TTR gene leading to protein misfolding and amyloid accumulation in peripheral nerves and vital organs. The latest global prevalence estimates point to 10,000 cases worldwide, with an upper end of about 40,000...
April 2, 2018: Neurology and Therapy
https://www.readbyqxmd.com/read/29584606/hereditary-sensory-and-autonomic-neuropathy-presenting-with-mutilating-trophic-ulcers
#19
Deepak Kumar Mathur, Chaitra Prakash, Puneet Bhargava, Vijay Paliwal, Kusum Mathur
Two siblings, a 19-year-old woman and an 18-year-old man, born to apparently normal parents of second-degree consanguineous marriage, presented to the Department of Dermatology, Sawai Man Singh Medical College Hospital, Jaipur, India, with recurrent skin ulcers of the hands and feet since early childhood. The ulcers were spontaneous, slow to heal, and caused deformities. On initial examination, they were found to have distal sensory loss, predominantly to pain and temperature. The patients were diagnosed with hereditary sensory and autonomic neuropathy of ulceromutilating type (Type 2) based on clinical evidences, nerve studies, and neuropathology...
March 2018: Wounds: a Compendium of Clinical Research and Practice
https://www.readbyqxmd.com/read/29582526/whole-exome-sequencing-reveals-a-novel-missense-mutation-in-the-mars-gene-related-to-a-rare-charcot-marie-tooth-neuropathy-type-2u
#20
Lena Sagi-Dain, Lilach Shemer, Nathanel Zelnik, Yusri Zoabi, Orit Sadeh, Vardit Adir, Aharon Schif, Amir Peleg
BACKGROUND: Charcot-Marie-Tooth (CMT) is a heterogeneous group of progressive disorders, characterized by chronic motor and sensory polyneuropathy. This hereditary disorder is related to numerous genes and varying inheritance patterns. Thus, many patients do not reach a final genetic diagnosis. PATIENT: We describe a 13-years old girl presenting with progressive bilateral leg weakness and gait instability. Extensive laboratory studies and spinal Magnetic resonance imaging scan were normal...
March 26, 2018: Journal of the Peripheral Nervous System: JPNS
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