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hereditary neuropathies

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https://www.readbyqxmd.com/read/29330367/characterization-of-human-small-heat-shock-protein-hspb1-%C3%AE-crystallin-domain-localized-mutants-associated-with-hereditary-motor-neuron-diseases
#1
Stephen D Weeks, Lydia K Muranova, Michelle Heirbaut, Steven Beelen, Sergei V Strelkov, Nikolai B Gusev
Congenital mutations in human small heat shock protein HSPB1 (HSP27) have been linked to Charcot-Marie-Tooth disease, a commonly occurring peripheral neuropathy. Understanding the molecular mechanism of such mutations is indispensable towards developing future therapies for this currently incurable disorder. Here we describe the physico-chemical properties of the autosomal dominant HSPB1 mutants R127W, S135F and R136W. Despite having a nominal effect on thermal stability, the three mutations induce dramatic changes to quaternary structure...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29315582/a-dual-role-for-integrin-%C3%AE-6%C3%AE-4-in-modulating-hereditary-neuropathy-with-liability-to-pressure-palsies
#2
Yannick Poitelon, Vittoria Matafora, Nicholas Silvestri, Desirée Zambroni, Claire McGarry, Nora Serghany, Thomas Rush, Domenica Vizzuso, Felipe A Court, Angela Bachi, Lawrence Wrabetz, Maria Laura Feltri
Peripheral myelin protein 22 (PMP22) is a component of compact myelin in the peripheral nervous system. The amount of PMP22 in myelin is tightly regulated, and PMP22 over or under-expression cause Charcot-Marie-Tooth 1A (CMT1A) and Hereditary Neuropathy with Pressure Palsies (HNPP). Despite the importance of PMP22, its function remains largely unknown. It was reported that PMP22 interacts with the β4 subunit of the laminin receptor α6β4 integrin, suggesting that α6β4 integrin and laminins may contribute to the pathogenesis of CMT1A or HNPP...
January 8, 2018: Journal of Neurochemistry
https://www.readbyqxmd.com/read/29300988/nerve-biopsy-is-still-useful-in-some-inherited-neuropathies
#3
Mathilde Duchesne, Stéphane Mathis, Laurence Richard, Corinne Magdelaine, Philippe Corcia, Sonia Nouioua, Meriem Tazir, Laurent Magy, Jean-Michel Vallat
In hereditary neuropathies, next-generation sequencing techniques are producing a vast number of candidate gene mutations that need to be verified or excluded by careful genotype-phenotype correlation analysis. In most cases, clinical acumen is still important but needs to be combined with data from nerve conduction studies and, in some cases, from nerve biopsy examinations. Indeed, characteristic clinical, electrophysiological, and sometimes pathological features may be suggestive of a particular subtype of Charcot-Marie-Tooth (CMT) disease...
December 29, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/29300239/mri-of-the-optic-nerves-and-chiasm-in-patients-with-leber-hereditary-optic-neuropathy
#4
Christelle Blanc, Françoise Heran, Christophe Habas, Yannick Bejot, José Sahel, Catherine Vignal-Clermont
BACKGROUND: The aim of this study was to characterize brain and orbital MRI features of patients with Leber hereditary optic neuropathy (LHON), with particular attention to the optic nerves and chiasm. METHOD: We studied a patient cohort with genetically confirmed LHON followed at 2 ophthalmologic hospitals in France between 2013 and 2015. High-resolution brain and orbital MRI studies were analyzed for each patient during the first 12 months after the onset of visual loss was analyzed...
January 3, 2018: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/29299376/aerobic-anti-gravity-exercise-in-patients-with-charcot-marie-tooth-disease-types-1a-and-x-a-pilot-study
#5
Kirsten L Knak, Linda K Andersen, John Vissing
Background: Charcot-Marie-Tooth (CMT) disease is a hereditary neuropathy associated with impaired walking capacity. Some patients are too weak in the lower extremity muscles to walk at gravity with sufficient intensity or duration to gain benefit. Aim: The aim was to investigate the effect of aerobic anti-gravity exercise in weak patients with CMT 1A and X. Methods: Five adult patients performed moderate-intensity aerobic anti-gravity exercise 3/week for 10 weeks...
December 2017: Brain and Behavior
https://www.readbyqxmd.com/read/29289840/founder-mutation-in-ikbkap-gene-causes-vestibular-impairment-in-familial-dysautonomia
#6
Joel V Gutiérrez, Horacio Kaufmann, Jose-Alberto Palma, Carlos Mendoza-Santiesteban, Vaughan G Macefield, Lucy Norcliffe-Kaufmann
OBJECTIVE: To assess vestibular function in patients with familial dysautonomia (FD), a hereditary sensory and autonomic neuropathy - caused by a mutation in the IKBKAP gene (c.2204 + 6 T>C) - and characterized by marked gait ataxia. METHODS: Cervical and vestibular evoked myogenic potentials (cVEMPs and oVEMPs) were recorded from the sternocleidomastoid (SCM) and extraocular muscles in 14 homozygous patients, 2 heterozygous patients, and 15 healthy controls during percussion of the forehead...
November 26, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29284658/teaching-neuroimages-leber-hereditary-optic-neuropathy-masquerading-as-neuromyelitis-optica
#7
Roman Kassa, Flavius Raslau, Charles Smith, Padmaja Sudhakar
No abstract text is available yet for this article.
January 2, 2018: Neurology
https://www.readbyqxmd.com/read/29260500/baseline-demographics-clinical-features-and-treatment-protocols-of-240-patients-with-optic-neuropathy-experiences-from-a-neuro-ophthalmological-clinic-in-the-aegean-region-of-turkey
#8
Omer Karti, Dilek Top Karti, İlay Hilal Kilic, Figen Gokcay, Nese Celebisoy
PURPOSE: To analyze the demographic patterns, clinical characteristics, and treatment protocols of optic neuropathies. MATERIALS AND METHODS: The hospital data of patients with optic neuropathy admitted to the Department of Neuro-ophthalmology in a tertiary referral center in Turkey between January 2010 to January 2017 were retrospectively analyzed. Demographic patterns, clinical features, treatment protocols, and the natural disease courses were assessed. RESULTS: The total number of patients with optic neuropathy seen over this period was 240, which consist of 43 with idiopathic optic neuritis (17...
December 19, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/29249004/leber-hereditary-optic-neuropathy-and-longitudinally-extensive-transverse-myelitis
#9
C Bursle, K Riney, J Stringer, D Moore, G Gole, L S Kearns, D A Mackey, D Coman
Leber Hereditary Optic Neuropathy is an inherited optic neuropathy caused by mitochondrial DNA point mutations leading to sudden, painless loss of vision. We report a case of an 8-year-old boy presenting with a radiological phenotype of longitudinally extensive transverse myelitis on a background of severe visual impairment secondary to Leber Hereditary Optic Neuropathy (LHON). He was found to have dual mitochondrial DNA mutations at 14484 (MTND6 gene) and 4160 (MTND1 gene) in a family with a severe form of LHON characterised by not only an unusually high penetrance of optic neuropathy, but also severe extra-ocular neurological complications...
December 17, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29246495/elevated-peripheral-myelin-protein-22-reduced-mitotic-potential-and-proteasome-impairment-in-dermal-fibroblasts-from-charcot-marie-tooth-disease-type-1a-patients
#10
Sooyeon Lee, Hannah Bazick, Vinita Chittoor-Vinod, Mohammed Omar Al Salihi, Guangbin Xia, Lucia Notterpek
A common form of hereditary autosomal dominant demyelinating neuropathy known as Charcot-Marie-Tooth disease type 1A (CMT1A) is linked with duplication of the peripheral myelin protein 22 (PMP22) gene. Although studies from animal models have led to better understanding of the pathobiology of these neuropathies, there continues to be a gap in the translation of findings from rodents to humans. As PMP22 was originally identified in fibroblasts as growth arrest specific gene 3 (gas3) and is expressed broadly in the body, it was tested whether skin cells from neuropathic patients would display the cellular pathology observed in Schwann cells from rodent models...
December 12, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/29243538/antineoplastic-agents-exacerbating-charcot-marie-tooth-disease-red-flags-to-avoid-permanent-disability
#11
M J Ibañez-Juliá, G Berzero, G Reyes-Botero, T Maisonobe, T Lenglet, M Slim, S Louis, A Balaguer, M Sanson, E Le Guern, P Latour, D Ricard, T Stojkovic, D Psimaras
BACKGROUND: Charcot Marie Tooth (CMT) disease is the most common form of hereditary neuropathy. Due to the high prevalence of mild and undiagnosed forms, patients with CMT disease may be exposed to severe neurotoxicity following the administration of neurotoxic chemotherapies. The aim of this report is to alert oncologists to the potential to precipitate severe irreversible peripheral neuropathies when administering neurotoxic compounds to undiagnosed CMT patients. MATERIAL AND METHODS: A retrospective research in the OncoNeuroTox database was performed (2010-2016), searching for patients with the diagnosis of chemotherapy-induced peripheral neuropathy (CIPN) and CMT disease...
December 15, 2017: Acta Oncologica
https://www.readbyqxmd.com/read/29236290/an-eight-generation-family-with-cmtx-confirmation-of-the-pathogenicity-of-a-3-untranslated-region-mutation-in-gjb1-and-its-clinical-features
#12
Dong-Hui Chen, Maxwell Ma, Mena Scavina, Elizabeth Blue, John Wolff, Prasanthi Karna, Michael O Dorschner, Wendy H Raskind, Thomas D Bird
INTRODUCTION: Mutations in gap junction protein beta 1 (GJB1) on the X chromosome represent one of the most common causes of hereditary neuropathy. We assessed manifestations associated with a rare 3' untranslated region mutation (UTR) of GJB1 in a large family with X-linked Charcot-Marie-Tooth (CMTX). METHODS: Clinical, electrophysiological, and molecular genetic analyses of an eight-generation family with CMTX. RESULTS: There we 22 affected males and 19 symptomatic females, including an 83-year old woman followed for 40 years...
December 13, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/29226326/retreg1-fam134b-a-new-player-in-human-diseases-15-years-after-the-discovery-in-cancer
#13
REVIEW
Farhadul Islam, Vinod Gopalan, Alfred King-Yin Lam
FAM134B (family with sequence similarity 134, member B) / RETREG1 and its functional roles are relatively new in human diseases. This review aimed to summarize various functions of FAM134B since our first discovery of the gene in 2001. The protein encoded by FAM134B is a reticulophagy receptor that regulates turnover of the endoplasmic reticulum (ER) by selective phagocytosis. Absence or non-functional expression of FAM134B protein impairs ER-turnover and thereby is involved in the pathogenesis of some human diseases...
December 11, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29225014/leber-s-hereditary-optic-neuropathy-caused-by-a-mutation-in-mitochondrial-trnathr-in-eight-chinese-pedigrees
#14
Juanjuan Zhang, Yanchun Ji, Xiaoling Liu, Jie Chen, Bibin Wang, Minglian Zhang, Min-Xin Guan
PURPOSE: The purpose of this study was to investigate the pathophysiology underlying Leber's hereditary optic neuropathy (LHON)-associated mitochondrial tRNA mutation. METHODS: Severn hundred ninety-seven Han Chinese subjects underwent clinical and genetic evaluation and analysis of mitochondrial DNA (mtDNA). The cybrid cell lines were constructed by transferring mitochondria from lymphoblastoid cell lines derived from a Chinese family into mtDNA-less (ρo) cells...
December 7, 2017: Mitochondrion
https://www.readbyqxmd.com/read/29210930/leber-hereditary-optic-neuropathy-caused-by-a-mitochondrial-dna-10663t-c-point-mutation-and-its-response-to-idebenone-treatment
#15
Øystein Kalsnes Jørstad, Eva Meling Ødegaard, Ketil Riddervold Heimdal, Emilia Kerty, Ketil Riddervold Heimdal, Emilia Kerty
No abstract text is available yet for this article.
November 21, 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/29209435/diseases-potentially-related-to-flammer-syndrome
#16
REVIEW
Katarzyna Konieczka, Carl Erb
Flammer syndrome (FS) is a prevalent and mostly benign condition. Subjects with FS seem to have a good life expectancy. Nevertheless, FS subjects are at increased risk for certain diseases, mainly when they are challenged by psychological stress or other stimuli such as coldness. FS is related to ocular diseases, such as normal-tension glaucoma, retinitis pigmentosa, central serous chorioretinopathy, optic nerve compartment syndrome, Leber's hereditary optic neuropathy, arterial or venous occlusions in the retina, and choroid and optic nerve head, despite the absence of classical vascular risk factors...
December 2017: EPMA Journal
https://www.readbyqxmd.com/read/29202483/pmp22-antisense-oligonucleotides-reverse-charcot-marie-tooth-disease-type-1a-features-in-rodent-models
#17
Hien Tran Zhao, Sagar Damle, Karli Ikeda-Lee, Steven Kuntz, Jian Li, Apoorva Mohan, Aneeza Kim, Gene Hung, Mark A Scheideler, Steven S Scherer, John Svaren, Eric E Swayze, Holly B Kordasiewicz
Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by duplication of peripheral myelin protein 22 (PMP22) and is the most common hereditary peripheral neuropathy. CMT1A is characterized by demyelination and axonal loss, which underlie slowed motor nerve conduction velocity (MNCV) and reduced compound muscle action potentials (CMAP) in patients. There is currently no known treatment for this disease. Here, we show that antisense oligonucleotides (ASOs) effectively suppress PMP22 mRNA in affected nerves in 2 murine CMT1A models...
December 4, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29189152/the-progress-of-gene-therapy-for-leber-s-optic-hereditary-neuropathy
#18
Yong Zhang, Zhen Tian, Jiajia Yuan, Chang Liu, Hong Li Liu, Si Qi Ma, Bin Li
Leber's Optic Hereditary Neuropathy (LHON) is a common cause of teenaged blindness in both eyes for which there is currently no effective treatment. In 1871, the German ophthalmologist Theodor Leber was the first to describe the clinical characteristics of his namesake disease, and through unremitting efforts over the past 100 years, researchers have continued to increase their understanding of LHON. In recent years, using gene therapy, several groups have obtained breakthroughs in the treatment of the disease...
November 29, 2017: Current Gene Therapy
https://www.readbyqxmd.com/read/29188523/visual-acuity-testing-before-and-after-intravitreal-injection-of-raav2-nd4-in-patients
#19
Bin Li, Chenmian Wu
Gene therapy in ophthalmology has developed rapidly, and there has been a breakthrough in the treatment of Leber's hereditary optic neuropathy. After receiving an intravitreal injection of rAAV2-ND4, patients followed up over a certain time period showed a definite increase in visual acuity. Visual acuity testing is critical for assessing the efficacy of rAAV2-ND4 intravitreal injection.
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29187684/-a-case-of-hereditary-sensory-and-autonomic-neuropathy-type-1e-with-frontal-lobe-dysfunction-as-an-initial-symptom
#20
Masashi Watanabe, Yushi Matsumoto, Kensho Okamoto, Bungo Okuda, Ikuko Mizuta, Toshiki Mizuno
A 49-year-old man had developed gradually personality change, gait disturbance, and hearing loss for five years. On admission, he presented with frontal release signs, stuttering, vertical gaze palsy, sensorineural deafness, muscle rigidity, ataxia, and sensory disturbance with areflexia in the lower extremities. Brain MRI demonstrated atrophy in the cerebellum and midbrain tegmentum as well as cerebral atrophy, predominantly in the frontal lobe. He was tentatively diagnosed as progressive supranuclear palsy on the basis of clinical features and imagings...
November 28, 2017: Rinshō Shinkeigaku, Clinical Neurology
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