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hereditary neuropathies

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https://www.readbyqxmd.com/read/28422281/wnk1-hsn2-founder-mutation-in-patients-with-hereditary-sensory-and-autonomic-neuropathy-a-japanese-cohort-study
#1
Jun-Hui Yuan, Akihiro Hashiguchi, Akiko Yoshimura, Norio Sakai, Masanori P Takahashi, Takehiro Ueda, Akira Taniguchi, Sayaka Okamoto, Nobuo Kanazawa, Yuki Yamamoto, Kazumasa Saigoh, Susumu Kusunoki, Masahiro Ando, Yu Hiramatsu, Yuji Okamoto, Hiroshi Takashima
The clinical and genetic spectrum of hereditary sensory and autonomic neuropathy (HSAN) is still unknown in Japan. We collected a broad cohort of 33 unrelated patients with predominant sensory and/or autonomic dysfunctions, who were referred to our genetic laboratory. A gene panel sequencing targeting 18 HSAN-related genes was performed using a next-generation sequencing system. A recurrent frame shift mutation in the WNK1/HSN2 gene, c.3237_3238insT (p.Asp1080*), was detected in five patients. This mutation was homozygous in four cases and of a compound heterozygous genotype in one case...
April 19, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28418273/thalidomide-for-epistaxis-in-patients-with-hereditary-hemorrhagic-telangiectasia-a-preliminary-study
#2
Jia Fang, Xiaomeng Chen, Bijun Zhu, Haibo Ye, Weitian Zhang, Jian Guan, Kaiming Su
To evaluate the effectiveness of thalidomide for epistaxis in hereditary hemorrhagic telangiectasia (HHT), 7 HHT patients with recurrent epistaxis were treated with thalidomide at an initial dose of 50 mg/d, gradually increasing to 100 mg/d if needed. The Epistaxis Severity Score (ESS) was used to evaluate the treatment effects. Patients reported that epistaxis improved 1 to 3 weeks after starting thalidomide. The mean ESS before treatment, at the end of treatment, and 3 months after stopping treatment was 5...
April 1, 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28412540/melanopsin-expressing-retinal-ganglion-cells-are-resistant-to-cell-injury-but-not-always
#3
Birgitte Georg, Anna Ghelli, Carla Giordano, Fred N Ross-Cisneros, Alfredo A Sadun, Valerio Carelli, Jens Hannibal, Chiara La Morgia
Melanopsin retinal ganglion cells (mRGCs) are intrinsically photosensitive RGCs deputed to non-image forming functions of the eye such as synchronization of circadian rhythms to light-dark cycle. These cells are characterized by unique electrophysiological, anatomical and biochemical properties and are usually more resistant than conventional retinal ganglion cells to different insults, such as axotomy and different paradigms of stress. We also demonstrated that these cells are relatively spared compared to conventional RGCs in mitochondrial optic neuropathies, i...
April 12, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28407266/hereditary-neuropathy-with-liability-to-pressure-palsy-in-patients-under-thirty-neurophysiological-data-and-proposed-electrodiagnostic-criteria
#4
Florence Robert-Varvat, Guillemette Jousserand, Françoise Bouhour, Christophe Vial, Pascal Cintas, Andoni Echaniz-Laguna, Emilien Delmont, Pierre Clavelou, Guy Chauplannaz, Laurent Jomir, Yann Péreon, Sarah Léonard-Louis, Véronique Manel, Jean-Christophe Antoine, Arnaud Lacour, Jean-Philippe Camdessanché
INTRODUCTION: In young patients with mononeuropathy who lack family history and precipitating factors, hereditary neuropathy with liability to pressure palsy (HNPP) may be a possibility. Our objective is to propose neurophysiological criteria for HNPP in patients aged <30 years. METHODS: We conducted a national multicenter retrospective clinical and neurophysiological study in patients under 30 with genetically confirmed HNPP. RESULTS: All of the 51 included patients had at least 1 demyelinating pattern in 2 asymptomatic nerves, and 3 abnormalities were found in almost 90%, including slowed motor nerve conduction velocity across the elbow in at least 1 ulnar nerve (97...
April 13, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28403426/high-mitochondrial-dna-copy-number-is-a-protective-factor-from-vision-loss-in-heteroplasmic-leber-s-hereditary-optic-neuropathy-lhon
#5
MULTICENTER STUDY
Angelica Bianco, Luigi Bisceglia, Luciana Russo, Luigi L Palese, Leonardo D'Agruma, Sonia Emperador, Julio Montoya, Silvana Guerriero, Vittoria Petruzzella
Purpose: Leber's hereditary optic neuropathy (LHON) is a mitochondrial disease that typically causes bilateral blindness in young men. It is characterized by as yet undisclosed genetic and environmental factors affecting the incomplete penetrance. Methods: We identified 27 LHON subjects who possess heteroplasmic primary LHON mutations. Mitochondrial DNA (mtDNA) copy number was evaluated. Results: The presence of centrocecal scotoma, an edematous, hyperemic optic nerve head, and vascular tortuosity, as well as telangiectasia was recognized in affected subjects...
April 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28399101/-clinical-and-epidemiological-characteristics-of-hereditary-motor-sensory-neuropathy-1x-caused-by-the-mutation-c-259c-g-p-p87a-in-the-gjb1-gene-of-patients-from-the-republic-of-bashkortostan
#6
E V Saifullina, R V Magzhanov, I M Khidiyatova, E K Khusnutdinova
BACKGROUND: Hereditary motor-sensory neuropathy 1X (НМСН 1X) is the second frequent form of hereditary motor-sensory neuropathies caused by mutations in the GJB1 gene (gap junction B1 type). The authors have established earlier that the с.259C>G (р.P87A) mutation is the most frequent cause of НМСН 1Х (92%) in patients from the Republic of Bashkortostan. AIM: To study in details the territorial ethnic distribution and clinical manifestations of the с...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28392196/nationwide-epidemiological-survey-of-leber-hereditary-optic-neuropathy-in-japan
#7
Kaori Ueda, Yuki Morizane, Fumio Shiraga, Keigo Shikishima, Hitoshi Ishikawa, Masato Wakakura, Makoto Nakamura
BACKGROUND: Leber hereditary optic neuropathy (LHON) is a maternally inherited optic neuropathy that leads to central loss of vision, predominantly in young males. Most LHON cases have one of three primary point mutations in mitochondrial DNA (mtDNA). The annual incidence and prevalence of LHON in Japan are not known. Thus, we estimated the annual incidence of molecularly confirmed LHON in Japan during 2014. METHODS: Sequential questionnaires were sent to 1397 facilities, which included all of the university hospitals in Japan, and they were certified by either the Japanese Ophthalmological Society or the Japanese Neuro-Ophthalmological Society...
April 6, 2017: Journal of Epidemiology
https://www.readbyqxmd.com/read/28376083/bovine-and-murine-models-highlight-novel-roles-for-slc25a46-in-mitochondrial-dynamics-and-metabolism-with-implications-for-human-and-animal-health
#8
Amandine Duchesne, Anne Vaiman, Johan Castille, Christian Beauvallet, Pauline Gaignard, Sandrine Floriot, Sabrina Rodriguez, Marthe Vilotte, Laurent Boulanger, Bruno Passet, Olivier Albaric, François Guillaume, Abdelhak Boukadiri, Laurence Richard, Maud Bertaud, Edouard Timsit, Raphaël Guatteo, Florence Jaffrézic, Pierre Calvel, Louise Helary, Rachid Mahla, Diane Esquerré, Christine Péchoux, Sophie Liuu, Jean-Michel Vallat, Didier Boichard, Abdelhamid Slama, Jean-Luc Vilotte
Neuropathies are neurodegenerative diseases affecting humans and other mammals. Many genetic causes have been identified so far, including mutations of genes encoding proteins involved in mitochondrial dynamics. Recently, the "Turning calves syndrome", a novel sensorimotor polyneuropathy was described in the French Rouge-des-Prés cattle breed. In the present study, we determined that this hereditary disease resulted from a single nucleotide substitution in SLC25A46, a gene encoding a protein of the mitochondrial carrier family...
April 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28369220/a-recurrent-wars-mutation-is-a-novel-cause-of-autosomal-dominant-distal-hereditary-motor-neuropathy
#9
Pei-Chien Tsai, Bing-Wen Soong, Inès Mademan, Yen-Hua Huang, Chia-Rung Liu, Cheng-Tsung Hsiao, Hung-Ta Wu, Tze-Tze Liu, Yo-Tsen Liu, Yen-Ting Tseng, Kon-Ping Lin, Ueng-Cheng Yang, Ki Wha Chung, Byung-Ok Choi, Garth A Nicholson, Marina L Kennerson, Chih-Chiang Chan, Peter De Jonghe, Tzu-Hao Cheng, Yi-Chu Liao, Stephan Züchner, Jonathan Baets, Yi-Chung Lee
Distal hereditary motor neuropathy is a heterogeneous group of inherited neuropathies characterized by distal limb muscle weakness and atrophy. Although at least 15 genes have been implicated in distal hereditary motor neuropathy, the genetic causes remain elusive in many families. To identify an additional causal gene for distal hereditary motor neuropathy, we performed exome sequencing for two affected individuals and two unaffected members in a Taiwanese family with an autosomal dominant distal hereditary motor neuropathy in which mutations in common distal hereditary motor neuropathy-implicated genes had been excluded...
March 22, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28348633/differentiating-leber-hereditary-optic-neuropathy-from-normal-tension-glaucoma
#10
Fernanda Maria Silveira Souto, José Paulo Cabral de Vasconcellos, Mônica Barbosa de Melo, Edi Lúcia Sartorato, Frederico Castelo Moura
Glaucoma is a neurodegenerative disorder characterized by thinning of neuroretinal rim, enlarged cup-to-disc ratio (CDR) and visual field damage. Although raised intraocular pressure is main risk factor for development of glaucoma, it can occur with consistently normal measurements in the intraocular pressure as normal tension glaucoma (NTG). Enlargement of CDR is a classical sign of glaucoma, but it can also result from non-glaucomatous optic neuropathies such as Leber hereditary optic neuropathy (LHON). We describe a case of LHON with increased CDR, discuss its differential diagnosis with NTG and highlight the reasons for misdiagnoses between these two entities...
April 2017: Neuro-ophthalmology
https://www.readbyqxmd.com/read/28335750/novel-compound-heterozygous-mutations-in-the-otof-gene-identified-by-whole-exome-sequencing-in-auditory-neuropathy-spectrum-disorder
#11
Fengzhu Tang, Dengke Ma, Yulan Wang, Yuecai Qiu, Fei Liu, Qingqing Wang, Qiutian Lu, Min Shi, Liang Xu, Min Liu, Jianping Liang
BACKGROUND: Many hearing-loss diseases are demonstrated to have Mendelian inheritance caused by mutations in single gene. However, many deaf individuals have diseases that remain genetically unexplained. Auditory neuropathy is a sensorineural deafness in which sounds are able to be transferred into the inner ear normally but the transmission of the signals from inner ear to auditory nerve and brain is injured, also known as auditory neuropathy spectrum disorder (ANSD). The pathogenic mutations of the genes responsible for the Chinese ANSD population remain poorly understood...
March 23, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28334952/dnmt1-mutations-found-in-hsanie-patients-affect-interaction-with-uhrf1-and-neuronal-differentiation
#12
Martha Smets, Stephanie Link, Patricia Wolf, Katrin Schneider, Veronica Solis, Joel Ryan, Daniela Meilinger, Weihua Qin, Heinrich Leonhardt
DNMT1 is recruited to substrate sites by PCNA and UHRF1 to maintain DNA methylation after replication. The cell cycle dependent recruitment of DNMT1 is mediated by the PCNA-binding domain (PBD) and the targeting sequence (TS) within the N-terminal regulatory domain. The TS domain was found to be mutated in patients suffering from hereditary sensory and autonomic neuropathies with dementia and hearing loss (HSANIE) and autosomal dominant cerebellar ataxia deafness and narcolepsy (ADCA-DN) and is associated with global hypomethylation and site specific hypermethylation...
April 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28328124/exome-sequencing-identifies-novel-ntrk1-mutations-in-patients-with-hsan-iv-phenotype
#13
Ruqaiah Altassan, Haya Al Saud, Tariq Ahmad Masoodi, Haya Al Dosssari, Ola Khalifa, Hamad Al-Zaidan, Nadia Sakati, Zuhair Rhabeeni, Zuhair Al-Hassnan, Yousef Binamer, Nadia Alhashemi, William Wade, Zayed Al-Zayed, Moeen Al-Sayed, Mohamed A Al-Muhaizea, Brian Meyer, Mohammad Al-Owain, Salma M Wakil
Hereditary sensory autonomic neuropathy type IV (HSAN-IV) is a rare autosomal recessive disorder that usually begins in infancy and is characterized by anhidrosis, insensitivity to noxious stimuli leading to self-mutilating behavior, and intellectual disability. HSAN-IV is caused by mutations in the neurotrophic tyrosine kinase receptor type 1 gene, NTRK1, encoding the high-affinity receptor of nerve growth factor (NGF) which maps to chromosome 1q21-q22. Patients with HSAN-IV lack all NGF-dependent neurons, the primary afferents and sympathetic postganglionic neurons leading to lack of pain sensation and the presence of anhidrosis, respectively...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28314831/childhood-onset-leber-hereditary-optic-neuropathy
#14
Anna Majander, Richard Bowman, Joanna Poulton, Richard J Antcliff, M Ashwin Reddy, Michel Michaelides, Andrew R Webster, Patrick F Chinnery, Marcela Votruba, Anthony T Moore, Patrick Yu-Wai-Man
BACKGROUND: The onset of Leber hereditary optic neuropathy (LHON) is relatively rare in childhood. This study describes the clinical and molecular genetic features observed in this specific LHON subgroup. METHODS: Our retrospective study consisted of a UK paediatric LHON cohort of 27 patients and 69 additional cases identified from a systematic review of the literature. Patients were included if visual loss occurred at the age of 12 years or younger with a confirmed pathogenic mitochondrial DNA mutation: m...
March 17, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28298852/leber-s-hereditary-optic-neuropathy-report-of-a-simple-case-associated-with-a-rare-variant-mutation
#15
Ravinder Mohan Malhotra, Mousa Ali Al Mejally, Hanadi Mahmoud Abualela, Marwa Ahmed Eltemamy
No abstract text is available yet for this article.
January 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28297702/long-term-effective-thalamic-deep-brain-stimulation-for-neuropathic-tremor-in-two-patients-with-charcot-marie-tooth-disease
#16
Lidia Cabañes-Martínez, Marta Del Álamo de Pedro, Gema de Blas Beorlegui, Ignacio Regidor Bailly-Bailliere
BACKGROUND: It has been described that many Charcot-Marie-Tooth syndrome type 2 patients are affected by a very disabling type of tremor syndrome, the pathophysiology of which remains unclear. Deep brain stimulation (DBS) has been successfully applied to treat most types of tremors by implanting electrodes in the ventral intermediate nucleus of the thalamus (Vim). METHODS: We used DBS applied to the Vim in 2 patients with severe axonal inherited polyneuropathies who developed a disabling tremor...
March 16, 2017: Stereotactic and Functional Neurosurgery
https://www.readbyqxmd.com/read/28295152/causally-treatable-hereditary-neuropathies-in-fabry-s-disease-transthyretin-related-familial-amyloidosis-and-pompe-s-disease
#17
REVIEW
J Finsterer, J Wanschitz, S Quasthoff, S Iglseder, W Löscher, W Grisold
OBJECTIVES: Most acquired neuropathies are treatable, whereas genetic neuropathies respond to treatment in Fabry's disease (FD), transthyretin-related familial amyloidosis (TTR-FA), and Pompe's disease (PD). This review summarizes and discusses recent findings and future perspectives concerning etiology, pathophysiology, clinical presentation, diagnosis, treatment, and outcome of neuropathy in FD, TTR-FA, and PD. METHODS: Literature review. RESULTS: Neuropathy in FD concerns particularly small, unmyelinated, or myelinated sensory fibers (small fiber neuropathy [SFN]) and autonomic fibers, manifesting as acroparesthesias, Fabry's crises, or autonomous disturbances...
March 12, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28291071/circinate-partition-like-findings-on-cone-mosaic-imaged-by-adaptive-optics-scanning-laser-ophthalmoscopy-in-eyes-with-inner-nuclear-layer-microcystic-changes
#18
Tomoko Hasegawa, Sotaro Ooto, Yukiko Makiyama, Masayuki Hata, Kazuaki Miyamoto, Nagahisa Yoshimura
PURPOSE: To report cases that showed partition-like, dark areas in the cone mosaic on adaptive optics scanning laser ophthalmoscopy (AO-SLO) images in eyes with inner nuclear layer (INL) microcystic changes. METHODS: Eyes with INL microcystic changes were imaged by prototype AO-SLO. RESULTS: An eye with Leber hereditary optic neuropathy, an eye with traumatic optic neuropathy, and an eye with retinitis pigmentosa that showed microcystic lesions in the INL were imaged by AO-SLO...
March 13, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28286897/charcot-marie-tooth-disease-genetic-subtypes-in-the-sardinian-population
#19
Lorena Lorefice, Maria Rita Murru, Giancarlo Coghe, Giuseppe Fenu, Daniela Corongiu, Jessica Frau, Stefania Tranquilli, Paolo Tacconi, Alessandro Vannelli, Giovanni Marrosu, Elena Mamusa, Eleonora Cocco, Maria Giovanna Marrosu
Charcot-Marie-Tooth disease (CMT) is characterised by great variability of genetic subtypes. This study aimed to assess the genetic subtypes of CMT disease in the Sardinian population. Genetic screening was performed for CMT cases (CMT1, CMT2, and hereditary neuropathy with susceptibility to pressure palsies [HNPP]). A total of 1,043 subjects (119 index cases) were evaluated. In CMT1 index cases (69/119; 58%), PMP22 duplication at 17p11.2 was the most frequent genetic diagnosis (60/69; 87%), followed by mutations in the GJB1 gene (5/69; 7...
March 13, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28281297/never-too-old-late-onset-leber-hereditary-optic-neuropathy
#20
Stephen J Vincent, Kirsty A Lowe, Cindy S Monsour
No abstract text is available yet for this article.
March 9, 2017: Clinical & Experimental Optometry: Journal of the Australian Optometrical Association
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