keyword
MENU ▼
Read by QxMD icon Read
search

Charcot neuropathy

keyword
https://www.readbyqxmd.com/read/28642160/a-novel-missense-variant-gln220arg-of-gnb4-encoding-guanine-nucleotide-binding-protein-subunit-beta-4-in-a-japanese-family-with-autosomal-dominant-motor-and-sensory-neuropathy
#1
Shiroh Miura, Takuya Morikawa, Ryuta Fujioka, Kazuhito Noda, Kengo Kosaka, Takayuki Taniwaki, Hiroki Shibata
Dominant intermediate Charcot-Marie-Tooth disease F (CMTDIF) is an autosomal dominant hereditary form of Charcot-Marie-Tooth disease (CMT) caused by variations in the guanine nucleotide-binding protein, subunit beta-4 gene (GNB4). We examined two Japanese familial cases with CMT. Case 1 was a 49-year-old male whose chief complaint was slowly progressive gait disturbance and limb dysesthesia that appeared at the age of 47. On neurological examination, he showed hyporeflexia or areflexia, distal limb muscle weakness, and distal sensory impairment with lower dominancy...
June 19, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28633435/mcm3ap-in-recessive-charcot-marie-tooth-neuropathy-and-mild-intellectual-disability
#2
Emil Ylikallio, Rosa Woldegebriel, Manuela Tumiati, Pirjo Isohanni, Monique M Ryan, Zornitza Stark, Maie Walsh, Sarah L Sawyer, Katrina M Bell, Alicia Oshlack, Paul J Lockhart, Mariia Shcherbii, Alejandro Estrada-Cuzcano, Derek Atkinson, Taila Hartley, Martine Tetreault, Inge Cuppen, W Ludo van der Pol, Ayse Candayan, Esra Battaloglu, Yesim Parman, Koen L I van Gassen, Marie-José H van den Boogaard, Kym M Boycott, Liisa Kauppi, Albena Jordanova, Tuula Lönnqvist, Henna Tyynismaa
Defects in mRNA export from the nucleus have been linked to various neurodegenerative disorders. We report mutations in the gene MCM3AP, encoding the germinal center associated nuclear protein (GANP), in nine affected individuals from five unrelated families. The variants were associated with severe childhood onset primarily axonal (four families) or demyelinating (one family) Charcot-Marie-Tooth neuropathy. Mild to moderate intellectual disability was present in seven of nine affected individuals. The affected individuals were either compound heterozygous or homozygous for different MCM3AP variants, which were predicted to cause depletion of GANP or affect conserved amino acids with likely importance for its function...
June 19, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28632967/prevalence-and-orthopedic-management-of-foot-and-ankle-deformities-in-charcot-marie-tooth-disease
#3
Matilde Laurá, Dishan Singh, Gita Ramdharry, Jasper Morrow, Mariola Skorupinska, Davide Pareyson, Joshua Burns, Richard A Lewis, Steve Scherer, David N Herrmann, Nicholas Cullen, Christopher Bradish, Luca Gaiani, Nicolò Martinelli, Paul Gibbons, Glenn Pfeffer, Phinit Phisitkul, Keith Wapner, James Sanders, Sam Flemister, Michael E Shy, Mary M Reilly
INTRODUCTION: Foot deformities are frequent complications in Charcot-Marie-Tooth disease (CMT) patients, often requiring orthopedic surgery. However there are no prospective randomized studies on surgical management, and there is variation in the approache between centers in the same country and between different countries. METHODS: We assessed the frequency of foot deformities and surgery among patients recruited to the Inherited Neuropathies Consortium (INC). We also designed a survey addressed to orthopedic surgeons at INC centers to determine whether surgical approaches to orthopedic complications in CMT are variable...
June 20, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28617998/schwann-cell-specific-deletion-of-the-endosomal-pi-3-kinase-vps34-leads-to-delayed-radial-sorting-of-axons-arrested-myelination-and-abnormal-erbb2-erbb3-tyrosine-kinase-signaling
#4
Anne M Logan, Anna E Mammel, Danielle C Robinson, Andrea L Chin, Alec F Condon, Fred L Robinson
The PI 3-kinase Vps34 (Pik3c3) synthesizes phosphatidylinositol 3-phosphate (PI3P), a lipid critical for both endosomal membrane traffic and macroautophagy. Human genetics have implicated PI3P dysregulation, and endosomal trafficking in general, as a recurring cause of demyelinating Charcot-Marie-Tooth (CMT) peripheral neuropathy. Here, we investigated the role of Vps34, and PI3P, in mouse Schwann cells by selectively deleting Vps34 in this cell type. Vps34-Schwann cell knockout (Vps34(SCKO) ) mice show severe hypomyelination in peripheral nerves...
June 15, 2017: Glia
https://www.readbyqxmd.com/read/28601552/deletion-of-p2-promoter-of-gjb1-gene-a-cause-of-charcot-marie-tooth-disease
#5
R Kulshrestha, S Burton-Jones, T Antoniadi, M Rogers, Z Jaunmuktane, S Brandner, N Kiely, R Manuel, T Willis
X-linked Charcot-Marie-Tooth disease (CMT) is the second most common cause of CMT, and is usually caused by mutations in the gap junction protein beta 1 (GJB1) gene. This gene has nerve specific P2 promoter that work synergistically with SOX10 and EGR2 genes to initiate transcription. Mutation in this region is known to cause Schwann cell dysfunction. A single large family of X linked peripheral neuropathy was identified in our practice. Next generation sequencing for targeted panel assay identified an upstream exon-splicing deletion identified extending from nucleotide c...
May 4, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28595831/-charcot-marie-tooth-disease-associated-with-hip-dysplasia-in-an-adolescent
#6
T Langlais, J-C Leonard, C Ursu, C Morin
Charcot-Marie-Tooth disease (CMT) is classified into hereditary motor and sensory neuropathy and can induce severe neuro-orthopaedics deformities, disabling at an early age. Hip dysplasia is present in 6% of CMT patients affecting preferentially CMT1 patients and can appear from the age of 8 years. The pathophysiological is paradoxical because we are confronted with proximal osteoarthritis deformations but genetics research brings use new trail. The main functional complaint is a hip joint pain during walking...
June 5, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28595321/mitochondrial-deficits-and-abnormal-mitochondrial-retrograde-axonal-transport-play-a-role-in-the-pathogenesis-of-mutant-hsp27-induced-charcot-marie-tooth-disease
#7
Bernadett Kalmar, Amy Innes, Klaus Wanisch, Alicia Koyen Kolaszynska, Amelie Pandraud, Gavin Kelly, Andrey Y Abramov, Mary M Reilly, Giampietro Schiavo, Linda Greensmith
Mutations in the small heat shock protein Hsp27, encoded by the HSPB1 gene, have been shown to cause Charcot Marie Tooth Disease type 2 (CMT-2) or distal hereditary motor neuropathy (dHMN). Protein aggregation and axonal transport deficits have been implicated in the disease. In this study, we conducted analysis of bidirectional movements of mitochondria in primary motor neuron axons expressing wild type and mutant Hsp27. We found significantly slower retrograde transport of mitochondria in Ser135Phe, Pro39Leu and Arg140Gly mutant Hsp27 expressing motor neurons than in wild type Hsp27 neurons, although anterograde movement velocities remained normal...
June 8, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28587902/involvement-of-charcot-marie-tooth-disease-gene-mitofusin-2-expression-in-paclitaxel-induced-mechanical-allodynia-in-rats
#8
Yuta Yamashita, Keiichi Irie, Akane Kochi, Nami Kimura, Toshinobu Hayashi, Koichi Matsuo, Takayuki Myose, Kazunori Sano, Takafumi Nakano, Yumi Takase, Yoshihiko Nakamura, Tomomitsu Satho, Kenji Mishima, Kenichi Mishima
Paclitaxel induces peripheral neuropathy, which is dose-limiting and results in loss of quality of life. Therefore, the prevention and treatment of paclitaxel-induced peripheral neuropathy are major concerns in clinical cancer therapy. However, the detailed mechanisms have not been fully elucidated. It has recently been reported that allelic variability in the Charcot-Marie-Tooth disease (CMT) genes, mitofusin 2 (MFN2), Rho guanine nucleotide exchange factor 10 (ARHGEF10), and periaxin (PRX), affected paclitaxel-induced peripheral neuropathy in clinical cases...
June 3, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28576196/management-of-osteomyelitis-and-bone-loss-in-the-diabetic-charcot-foot-and-ankle
#9
REVIEW
Daniel J Short, Thomas Zgonis
Bone loss and destruction due to diabetic Charcot neuroarthropathy (CN) and osteomyelitis of the foot and ankle is a challenging clinical condition when lower extremity preservation is considered. Resection and excision of osteomyelitis and associated nonviable soft tissue can lead into large osseous and soft tissue defects that will most likely need the utilization of bone grafting and subsequent arthrodesis for stability and anatomic alignment. In the diabetic population with peripheral neuropathy, osseous instability can lead to subsequent lower extremity deformity, ulceration, infection and/or amputation...
July 2017: Clinics in Podiatric Medicine and Surgery
https://www.readbyqxmd.com/read/28575008/plasma-metabolome-and-skin-proteins-in-charcot-marie-tooth-1a-patients
#10
Beatriz Soldevilla, Carmen Cuevas-Martín, Clara Ibáñez, Fulvio Santacatterina, María A Alberti, Carolina Simó, Carlos Casasnovas, Celedonio Márquez-Infante, Teresa Sevilla, Samuel I Pascual, María Sánchez-Aragó, Carmen Espinos, Francesc Palau, José M Cuezva
OBJECTIVE: Charcot-Marie-Tooth 1A (CMT1A) disease is the most common inherited neuropathy that lacks of therapy and of molecular markers to assess disease severity. Herein, we have pursued the identification of potential biomarkers in plasma samples and skin biopsies that could define the phenotype of CMT1A patients at mild (Mi), moderate (Mo) and severe (Se) stages of disease as assessed by the CMT neuropathy score to contribute to the understanding of CMT pathophysiology and eventually inform of the severity of the disease...
2017: PloS One
https://www.readbyqxmd.com/read/28555600/audiological-findings-in-charcot-marie-tooth-disease-type-4c
#11
Rafael Sivera, Laura Cavalle, Juan J Vílchez, Carmen Espinós, Herminio Pérez Garrigues, Teresa Sevilla
OBJECTIVE: Charcot-Marie-Tooth disease type 4C (CMT4C) is a hereditary demyelinating early onset neuropathy with prominent unsteadiness and occasional cranial nerve involvement. Vestibulopathy caused by the dysfunction of cranial nerve VIII has been demonstrated in a high percentage of these patients, but the presence and degree of auditory neuropathy are unknown. The aim of the study was to characterize the hearing abnormalities of a series of patients with CMT4C and to determine the presence and severity of auditory neuropathy (AN) in these patients...
April 2017: Journal of International Advanced Otology
https://www.readbyqxmd.com/read/28544463/axonal-charcot-marie-tooth-neuropathy-concurrent-with-distal-and-proximal-weakness-by-translational-elongation-of-the-3-utr-in-nefh
#12
Da Eun Nam, Sung-Chul Jung, Da Hye Yoo, Sun Seong Choi, Sung-Yum Seo, Gwang Hoon Kim, Song-Ja Kim, Soo Hyun Nam, Byung-Ok Choi, Ki Wha Chung
Mutations in the NEFH gene encoding the heavy neurofilament protein are usually associated with neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS). Recently, frameshift variants in NEFH (p.Asp1004Glnfs*58 and p.Pro1008Alafs*56) have been reported to be the underlying cause of axonal Charcot-Marie-Tooth disease type 2CC (CMT2CC). The frameshift mutation resulted in a stop loss and translation of a cryptic amyloidogenic element (CAE) encoded by the 3' UTR. This study also identified a de novo c...
May 24, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28531329/alternative-stable-conformation-capable-of-protein-misinteraction-links-trna-synthetase-to-peripheral-neuropathy
#13
David Blocquel, Sheng Li, Na Wei, Herwin Daub, Mathew Sajish, Maria-Luise Erfurth, Grace Kooi, Jiadong Zhou, Ge Bai, Paul Schimmel, Albena Jordanova, Xiang-Lei Yang
While having multiple aminoacyl-tRNA synthetases implicated in Charcot-Marie-Tooth (CMT) disease suggests a common mechanism, a defect in enzymatic activity is not shared among the CMT-causing mutants. Protein misfolding is a common hypothesis underlying the development of many neurological diseases. Its process usually involves an initial reduction in protein stability and then the subsequent oligomerization and aggregation. Here, we study the structural effect of three CMT-causing mutations in tyrosyl-tRNA synthetase (TyrRS or YARS)...
May 22, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28509084/whole-exome-sequencing-identifies-a-novel-homozygous-frameshift-mutation-in-the-mtmr2-gene-as-a-causative-mutation-in-a-patient-with-charcot-marie-tooth-disease-type-4b1
#14
Tameemi Abdalla-Moady, Amir Peleg, Orit Sadeh, Khader Badarneh, Fuad Fares
Charcot-Marie-Tooth (CMT) disease refers to a heterogeneous group of axonal and demyelinating polyneuropathies, characterized by chronic motor and sensory dysfunction. CMT is the most common genetic cause of neuropathy. The present study aimed to identify the gene mutation responsible for CMT in Ashkenazi Jew (AJ) patient. Genomic DNA was extracted from whole blood leukocytes of affected family and normal subject. Whole-exome sequencing was performed using the Illumina HiSeq2500. The DNA region containing the identified mutation was amplified by PCR and sequenced using dye-terminator chemistry and the forward primer...
May 16, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28507975/charcot-fracture-in-the-calcaneus-after-total-knee-arthroplasty-a-case-report
#15
Hirokazu Takai, Katsuhiko Kiyota, Nobutake Nakane, Tomoki Takahashi
INTRODUCTION: Only a few reports have described calcaneus fractures after total knee arthroplasty (TKA). Therefore, in this report, we describe a case of calcaneal avulsion fracture that occurred 5 weeks after a TKA in a relatively young male patient with syphilis. CASE REPORT: A 63-year-old man with syphilis had Charcot joint of the right knee. The patient developed severe varus deformity and contracture and experienced severe pain in the knee. TKA was performed to alleviate the pain and improve the patient's gait...
November 2016: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/28500667/magnetic-resonance-neurography-and-diffusion-tensor-imaging-of-the-peripheral-nerves-in-patients-with-cmt-type-1a
#16
Michael Vaeggemose, Signe Vaeth, Mirko Pham, Steffen Ringgaard, Uffe B Jensen, Hatice Tankisi, Niels Ejskjaer, Sabine Heiland, Henning Andersen
INTRODUCTION: Investigation of peripheral neuropathies by magnetic resonance neurography (MRN) may provide increased diagnostic accuracy when performed in combination with diffusion tensor imaging (DTI). The aim of this study was to evaluate DTI in the detection of neuropathic abnormalities in Charcot-Marie-Tooth-type-1A (CMT1A). METHODS: MR imaging of the sciatic and tibial nerves, including MRN and DTI, was prospectively performed in 15 CMT1A patients and 30 healthy-controls (HC)...
May 13, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28495047/similar-clinical-pathological-and-genetic-features-in-chinese-patients-with-autosomal-recessive-and-dominant-charcot-marie-tooth-disease-type-2k
#17
Jun Fu, Shixu Dai, Yuanyuan Lu, Rui Wu, Zhaoxia Wang, Yun Yuan, He Lv
Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) cause rare subtypes of Charcot-Marie-Tooth disease (CMT2K and CMT4A). CMT2K is an axonal neuropathy while CMT4A is a demyelinating type. In a series of 169 Chinese CMT patients (79 CMT1, 52 CMT2 and 38 unclassified), four unrelated patients (2.37%) were identified with GDAP1 mutations, including two with autosomal recessive CMT2K (AR-CMT2K) and two dominant CMT2K (AD-CMT2K). All patients had disease onset before 5 years of age, and presented with muscle weakness, atrophy, and mild sensory disturbance in distal limbs...
April 20, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28489810/a-case-report-of-hereditary-neuropathy-with-liability-to-pressure-palsies-accompanied-by-type-2-diabetes-mellitus-and-psoriasis
#18
Jing Li, Bing Niu, Xiaoling Wang, Huaiqiang Hu, Bingzhen Cao
RATIONALE: Hereditary neuropathy with liability to pressure palsy (HNPP) is an episodic, multifocal neuropathy, with a typical clinical presentation of recurrent transient pressure palsies, which is induced by a PMP22 deletion. Another neuropathy caused by a PMP22 duplication is Charcot-Marie-Tooth disease type 1A (CMT1A). PMP22 is a gene coding a protein called peripheral myelin protein 22 (PMP22), which plays an essential role in the formation and maintenance of compact myelin. Coexistence of type 2 diabetes mellitus (T2DM) and CMT1A has been reported in many work, however HNPP patients with T2DM are rare, and comorbidity of HNPP and psoriasis has not been reported previously...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28476389/diabetic-driving-studies-part-3-a-comparison-of-mean-brake-response-time-between-neuropathic-diabetic-drivers-with-and-without-foot-pathology
#19
Laura E Sansosti, Kerianne E Spiess, Andrew J Meyr
We have previously demonstrated an abnormally delayed mean brake response time and an increased frequency of abnormally delayed brake responses in a group of neuropathic diabetic drivers compared with a control group of drivers with neither diabetes nor lower extremity neuropathy. The objective of the present case-control study was to compare the mean brake response time between neuropathic diabetic drivers with and without specific diabetic foot pathology. The braking performances of the participants were evaluated using a computerized driving simulator with specific measurement of the mean brake response time and the frequency of abnormally delayed brake responses...
May 2017: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/28469666/anatomical-distributional-defects-in-mutant-genes-associated-with-dominant-intermediate-charcot-marie-tooth-disease-type-c-in-an-adenovirus-mediated-mouse-model
#20
SeoJin Lee, Sandesh Panthi, Hyun Woo Jo, Jaeyoung Cho, Min-Sik Kim, Na Young Jeong, In Ok Song, Junyang Jung, Youngbuhm Huh
Dominant intermediate Charcot-Marie-Tooth disease type C (DI-CMTC) is a dominantly inherited neuropathy that has been classified primarily based on motor conduction velocity tests but is now known to involve axonal and demyelination features. DI-CMTC is linked to tyrosyl-tRNA synthetase (YARS)-associated neuropathies, which are caused by E196K and G41R missense mutations and a single de novo deletion (153-156delVKQV). It is well-established that these YARS mutations induce neuronal dysfunction, morphological symptoms involving axonal degeneration, and impaired motor performance...
March 2017: Neural Regeneration Research
keyword
keyword
93479
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"