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https://www.readbyqxmd.com/read/29305691/the-capos-mutation-in-atp1a3-alters-na-k-atpase-function-and-results-in-auditory-neuropathy-which-has-implications-for-management
#1
Lisbeth Tranebjærg, Nicola Strenzke, Sture Lindholm, Nanna D Rendtorff, Hanne Poulsen, Himanshu Khandelia, Wojciech Kopec, Troels J Brünnich Lyngbye, Christian Hamel, Cecile Delettre, Beatrice Bocquet, Michael Bille, Hanne H Owen, Toke Bek, Hanne Jensen, Karen Østergaard, Claes Möller, Linda Luxon, Lucinda Carr, Louise Wilson, Kaukab Rajput, Tony Sirimanna, Katherine Harrop-Griffiths, Shamima Rahman, Barbara Vona, Julia Doll, Thomas Haaf, Oliver Bartsch, Hendrik Rosewich, Tobias Moser, Maria Bitner-Glindzicz
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing impairment (CAPOS) is a rare clinically distinct syndrome caused by a single dominant missense mutation, c.2452G>A, p.Glu818Lys, in ATP1A3, encoding the neuron-specific alpha subunit of the Na+/K+-ATPase α3. Allelic mutations cause the neurological diseases rapid dystonia Parkinsonism and alternating hemiplegia of childhood, disorders which do not encompass hearing or visual impairment. We present detailed clinical phenotypic information in 18 genetically confirmed patients from 11 families (10 previously unreported) from Denmark, Sweden, UK and Germany indicating a specific type of hearing impairment-auditory neuropathy (AN)...
January 5, 2018: Human Genetics
https://www.readbyqxmd.com/read/29300224/achilles-tendinopathy
#2
Umile Giuseppe Longo, Mario Ronga, Nicola Maffulli
Achilles tendinopathy is a common cause of disability. Despite the economic and social relevance of the problem, the causes and mechanisms of Achilles tendinopathy remain unclear. Tendon vascularity, gastrocnemius-soleus dysfunction, age, sex, body weight and height, pes cavus, and lateral ankle instability are considered common intrinsic factors. The essence of Achilles tendinopathy is a failed healing response, with haphazard proliferation of tenocytes, some evidence of degeneration in tendon cells and disruption of collagen fibers, and subsequent increase in noncollagenous matrix...
March 2018: Sports Medicine and Arthroscopy Review
https://www.readbyqxmd.com/read/29287866/childhood-hearing-loss-is-a-key-feature-of-capos-syndrome-a-case-report
#3
Stéphanie Paquay, Elsa Wiame, Naima Deggouj, Antonella Boschi, Romolo Daniele De Siati, Yves Sznajer, Marie-Cécile Nassogne
CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare neurological disorder, recently associated with the c.2452G > A hotspot mutation in the ATP1A3 gene, with sensorineural hearing loss as a prominent feature. We herein report on a girl who has experienced hearing loss for three years following an initial encephalitic episode when aged 15 months old. CAPOS was diagnosed only when she was six years old by targeted testing whilst she displayed optic atrophy, cerebellar signs and areflexia...
January 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29245364/x-linked-charcot-marie-tooth-disease-with-gjb1-mutation-presenting-as-acute-disseminated-encephalomyelitis-like-illness-a-case-report
#4
Jin Kyu Kim, Seung-A Han, Sun Jun Kim
RATIONALE: Charcot-Marie-Tooth disease (CMT) is typically an autosomal dominant, inherited neuropathy, although there is a rare male X-linked CMT. Such patients show central nervous system (CNS) involvement in addition to peripheral neuropathy. Recently, we encountered a patient who presented with acute disseminated encephalomyelitis (ADEM)-like symptoms, but was later diagnosed as having X-linked CMT (CMTX) due to a mutation. PATIENT CONCERNS: A previously healthy 11-year-old boy was admitted for a sudden transient weakness of his left side extremities...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29196274/neuromuscular-diseases-diagnosis-and-management
#5
REVIEW
P Mary, L Servais, R Vialle
Neuromuscular diseases (NMDs) affect the peripheral nervous system, which includes the motor neurons and sensory neurons; the muscle itself; or the neuromuscular junction. Thus, the term NMDs encompasses a vast array of different syndromes. Some of these syndromes are of direct relevance to paediatric orthopaedic surgeons, either because the presenting manifestation is a functional sign (e.g., toe walking) or deformity (e.g., pes cavus or scoliosis) suggesting a need for orthopaedic attention or because orthopaedic abnormalities requiring treatment develop during the course of a known NMD...
November 28, 2017: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/29184351/clinico-electrophysiological-and-genetic-overlaps-and-magnetic-resonance-imaging-findings-in-charcot-marie-tooth-disease-a-pilot-study-from-western-india
#6
Satish Vasant Khadilkar, Nahush D Patil, Nikhil Dhananjay Kadam, Khushnuma A Mansukhani, Bhagyadhan A Patel
Background: Charcot-Marie-Tooth (CMT) disease is clinically and genetically heterogeneous. There are no published series describing clinical, electrophysiological, and genetic information on CMT from the Indian subcontinent. Magnetic resonance imaging (MRI) neurography technique provides useful information about the plexus and roots and can be employed in patients with CMT. Settings and Design: A prospective, observational study carried out at a tertiary care hospital in Western India...
October 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/29184165/atp1a3-mutations-can-cause-progressive-auditory-neuropathy-a-new-gene-of-auditory-synaptopathy
#7
Kyu-Hee Han, Doo-Yi Oh, Seungmin Lee, Chung Lee, Jin Hee Han, Min Young Kim, Hye-Rim Park, Moo Kyun Park, Nayoung K D Kim, Jaekwang Lee, Eunyoung Yi, Jong-Min Kim, Jeong-Whun Kim, Jong-Hee Chae, Seung Ha Oh, Woong-Yang Park, Byung Yoon Choi
The etiologies and prevalence of sporadic, postlingual-onset, progressive auditory neuropathy spectrum disorder (ANSD) have rarely been documented. Thus, we aimed to evaluate the prevalence and molecular etiologies of these cases. Three out of 106 sporadic progressive hearing losses turned out to manifest ANSD. Through whole exome sequencing and subsequent bioinformatics analysis, two out of the three were found to share a de novo variant, p.E818K of ATP1A3, which had been reported to cause exclusively CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) syndrome...
November 28, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29090527/novel-pregnancy-triggered-episodes-of-capos-syndrome
#8
Irene J Chang, Margaret P Adam, Suman Jayadev, Thomas D Bird, Niranjana Natarajan, Ian A Glass
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome (OMIM# 601338) is a rare autosomal dominant disorder characterized by episodic, fever-induced ataxic encephalopathy in childhood with residual symptoms. All identified patients have the same heterozygous missense variant c.2452G>A (p.Glu818Lys) in the ATP1A3 gene, encoding Na(+) /K(+) ATPase α3. We describe a large CAPOS pedigree with three generations of affected members, the first ascertained in the United States...
November 1, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28826918/surgical-management-of-142-cases-of-split-cord-malformations-associated-with-osseous-divide
#9
Tao Wang, Jian-Wen Gu, Tie-Jun Shi, Ke Li, Wei Wang, Xiao-Jun Bai, Jun-Hai Zhang, Zhi-Feng Yang, Shao-Jie Cui
OBJECTIVES: To investigate the key surgical points in treating split cord malformations associated with osseous divide and scoliosis (SCM-OD-S). MATERIALS AND METHODS: The surgical options and methods of a total of 142 SCM-OD-S cases were retrospectively analyzed, and the surgical precautions and imaging diagnosis were also discussed. RESULTS: The 142 patients were performed osseous divide resection plus dural sac molding, which achieved good results and no serious complication such as spinal cord and nerve injury occurred; certain symptoms such as urination-defecation disorders, muscle strength subsidence, Pes Cavus, and toe movement disorder in partial patients achieved various degrees of relief, and it also created good conditions for next-step treatment against scoliosis...
August 1, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28804760/autopsy-case-of-the-c12orf65-mutation-in-a-patient-with-signs-of-mitochondrial-dysfunction
#10
Hideaki Nishihara, Masatoshi Omoto, Masaki Takao, Yujiro Higuchi, Michiaki Koga, Motoharu Kawai, Hiroo Kawano, Eiji Ikeda, Hiroshi Takashima, Takashi Kanda
OBJECTIVE: To describe the autopsy case of a patient with a homozygous 2-base deletion, c171_172delGA (p.N58fs), in the C12orf65 gene. METHODS: We described the clinical history, neuroimaging data, neuropathology, and genetic analysis of the patients with C12orf65 mutations. RESULTS: The patient was a Japanese woman with a history of delayed psychomotor development, primary amenorrhea, and gait disturbance in her 20s. She was hospitalized because of respiratory failure at the age of 60...
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28647130/fever-induced-paroxysmal-weakness-and-encephalopathy-a-new-phenotype-of-atp1a3-mutation
#11
Sho T Yano, Kenneth Silver, Richard Young, Suzanne D DeBrosse, Roseànne S Ebel, Kathryn J Swoboda, Gyula Acsadi
BACKGROUND: We identified a group of patients with ATP1A3 mutations at residue 756 who display a new phenotype, distinct from alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism, and cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndromes. METHODS: Four patients with c.2267G>A (R756H) mutations from two families and two patients with c.2267G>T (R756L) mutations from one family are described and compared with the previously reported patients with mutations resulting in R756H and R756C protein variants...
August 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28617260/pes-planus-and-pes-cavus-in-southern-italy-a-5-years-study
#12
Gianmarco Troiano, Nicola Nante, Guglielmo Lucio Citarelli
INTRODUCTION: Baropodometrical digital techniques map the pressures exerted on the foot plant during both static and dynamic loadings. The study of the distribution of such pressures makes it possible to evaluate the postural and locomotory biomechanics together with its pathological variations. METHODS: From January 2011 to August 2016 we conducted a cross sectional study in order to diagnose flatfoot and hollowfoot through the baropodometric analysis, and collecting additional information such as gender and the age...
April 2017: Annali Dell'Istituto Superiore di Sanità
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
#13
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/28503539/differences-in-pes-planus-and-pes-cavus-subtalar-eversion-inversion-before-and-after-prolonged-running-using-a-two-dimensional-digital-analysis
#14
Charlotte Sinclair, Ulla Svantesson, Rita Sjöström, Marie Alricsson
In sports, there is a constant discussion about the hyper-pronation and supination of the foot during loading and its relation to injuries or discomfort. The purpose of the present study was to investigate the possible differences in the subtalar joint in the midstance phase of running, between individuals with Pes Planus and Pes Cavus, after 5 min and 45 min of running. Thirty-four subjects, meeting the requirements for Pes Planus (30 feet) and Pes Cavus (35 feet), according to the criteria for Medial Longitudinal Arch-angle, were included in the study...
April 2017: Journal of Exercise Rehabilitation
https://www.readbyqxmd.com/read/28502349/total-ankle-replacement-in-the-presence-of-talar-varus-or-valgus-deformities
#15
REVIEW
Andrew Dodd, Timothy R Daniels
Patients presenting with end-stage ankle arthritis with coronal plane talar deformities have a variety of complex multidirectional deformities that require careful preoperative assessment and a clear understanding of the pathophysiology. Surgeons managing these patients with total ankle arthroplasty need to be familiar with extra-articular and intra-articular surgical methods to correct pes planus and pes cavus deformities, including bony procedures and soft tissue procedures. Performing these procedures in 1 or 2 stages depends on surgeon preference and the severity of the deformities...
June 2017: Foot and Ankle Clinics
https://www.readbyqxmd.com/read/28483396/early-diagnosis-of-capos-syndrome-before-acute-onset-ataxia-review-of-the-literature-and-a-new-family
#16
Anna Duat Rodriguez, Michaela Prochazkova, Saturnino Santos Santos, Oscar Rubio Cabezas, Veronica Cantarin Extremera, Luis Gonzalez-Gutierrez-Solana
BACKGROUND: CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare disease that has been reported in 22 patients so far. In all cases, the mutation c.2452G>A (p.Glu818Lys) in the ATP1A3 gene was identified. Patients typically present at an early age with an acute-onset fever-induced episode of ataxia frequently associated with encephalopathy and weakness. They usually present one to three episodes. The acute symptoms improve within days, but most patients show slow progression afterward...
June 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28442207/tibio-talo-calcaneal-fusion-after-limb-salvage-procedures-a-retrospective-study
#17
Lukas Zak, Gerald E Wozasek
BACKGROUND: The treatment of limb threatening trauma on the distal tibia or hindfoot often results in posttraumatic osteoarthritis requiring tibiotalocalcaneal (TTC) arthrodesis. The purpose of this study was to present a case series of patients undergoing various techniques of joint fusion after bone reconstruction and deformity correction as a salvage procedure. The study should help trauma surgeons making decisions in limb salvage and deformity correction in complex lower leg and foot injuries by presenting options and treatment strategies...
July 2017: Injury
https://www.readbyqxmd.com/read/28229324/corr-insights-%C3%A2-is-pes-cavus-alignment-associated-with-lisfranc-injuries-of-the-foot
#18
COMMENT
H Thomas Temple
No abstract text is available yet for this article.
May 2017: Clinical Orthopaedics and related Research
https://www.readbyqxmd.com/read/28018685/coexistence-of-factor-vii-deficiency-and-hereditary-spastic-paraplegia-in-two-siblings
#19
Hortensia De la Corte-Rodriguez, E Carlos Rodriguez-Merchan, M Teresa Alvarez-Roman, Ana L Hernandez-Moreno
We present the case of two patients aged 12 years and 7 years who were referred to our hospital for factor VII deficiency inherited in an autosomal recessive pattern, who had suffered from previous multiple joint haemarthroses. They presented with fine motor symptoms and difficulty in walking. During physical examination we observed neurological symptoms (general hypotonia, muscular hypotrophy, exaggerated tendon reflexes, pes cavus, and spastic gait). Given that the symptoms were not justified by the deficiency of coagulation factor VII and on suspicion of hereditary spastic paraplegia (HSP), tests were carried out...
2016: Case Reports in Hematology
https://www.readbyqxmd.com/read/27908631/confirmation-of-the-gnb4-gene-as-causal-for-charcot-marie-tooth-disease-by-a-novel-de-novo-mutation-in-a-czech-patient
#20
Laššuthová Petra, Šafka Brožková Dana, Neupauerová Jana, Krůtová Marcela, Mazanec Radim, Seeman Pavel
The association of GNB4 with Charcot-Marie-Tooth (CMT) has recently been described in a publication by Soong et al. (Soong, et al., 2013). Here we present a patient with CMT in whom whole exome sequencing identified the mutation p.Lys57Glu in the GNB4 gene (NM_021629.3:c.169A>G). The patient, now 41 years old, is a sporadic case in the family. At the age of 35 he presented with severe disability (CMT neuropathy score 29), profound muscle atrophies, pes cavus and scoliosis. Previously, the patient was tested for PMP22 duplications/deletions and later also with 64 CMT gene panel, with no causal variant found...
September 22, 2016: Neuromuscular Disorders: NMD
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