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https://www.readbyqxmd.com/read/28650581/deficiency-of-wars2-encoding-mitochondrial-tryptophanyl-trna-synthetase-causes-severe-infantile-onset-leukoencephalopathy
#1
Benjamin E Theisen, Anastasia Rumyantseva, Julie S Cohen, Wendy A Alcaraz, Deepali N Shinde, Sha Tang, Siddarth Srivastava, Jonathan Pevsner, Aleksandra Trifunovic, Ali Fatemi
Pathogenic variants in the mitochondrial aminoacyl tRNA synthetases lead to deficiencies in mitochondrial protein synthesis and are associated with a broad range of clinical presentations usually with early onset and inherited in an autosomal recessive manner. Of the 19 mitochondrial aminoacyl tRNA synthetases, WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, was as of late the only one that had not been associated with disease in humans. A case of a family with pathogenic variants in WARS2 that caused mainly intellectual disability, speech impairment, aggressiveness, and athetosis was recently reported...
June 26, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28588358/marchiafava-bignami-s-disease-as-etiologic-diagnosis-of-athetosis
#2
Alberto Vargas Canas, Mario Rivas, Rodrigo Guerrero Torrealba, María Francisca Fajre Caamano
The Marchiafava-Bignami disease, characterized by demyelination and necrosis of the corpus callosum, has typically been associated with chronic alcohol intake, and clinically has various symptoms and signs. However, several cases have been reported without alcohol association, and these - according to several publications - have some common points, such as preference for female, related to malnutrition, and radiological involvement of the splenium of the corpus callosum. We report a case of a patient with the characteristics described above and whose clinical manifestation was Athetosis...
May 2017: Annals of Neurosciences
https://www.readbyqxmd.com/read/28566775/orthopedic-surgery-in-cerebral-palsy-instructional-course-lecture
#3
Deepak Sharan
Orthopedic surgery (OS) plays an important role in the management of cerebral palsy (CP). The objectives of OS are to optimize functions and prevent deformity. Newer developments in OS for CP include emphasis on hip surveillance, minimally invasive procedures, use of external fixators instead of plates and screws, better understanding of lever arm dysfunctions (that can only be corrected by bony OS), orthopedic selective spasticity-control surgery, and single-event multilevel lever arm restoration and anti spasticity surgery, which have led to significant improvements in gross motor function and ambulation, especially in spastic quadriplegia, athetosis, and dystonia...
May 2017: Indian Journal of Orthopaedics
https://www.readbyqxmd.com/read/28484905/historical-perspectives-on-ancient-greek-derived-a-prefixed-nomenclature-for-acquired-neurocognitive-impairment
#4
REVIEW
Philip Gerard Gasquoine
Distinct forms of acquired neurocognitive impairment are often described by "a" prefixed terms that derive from ancient Greek (and in one case Latin). Two modern English language neurological and neuropsychological reference books were searched to identify 17 such terms in contemporary usage: amnesia, akinesia, ataxia, aphasia, agraphia, anosmia, apraxia, athetosis, ageusia, achromatopsia, agnosia, alexia, amusia, anomia, anarthria, anosognosia, and acalculia. These were traced to their initial association with acquired neurocognitive impairment in German, English, and French language medical publications from the late 18th, 19th, and early 20th centuries (1770 through 1920)...
May 8, 2017: Neuropsychology Review
https://www.readbyqxmd.com/read/28012542/audiological-findings-in-children-with-ataxia-telangiectasia-a-t-syndrome
#5
Pretty O Afifi, Hanaa Hussein Elsanadiky
AIM: To assess peripheral and central hearing in children with A-T. METHOD: 3 children diagnosed with A-T according to the diagnostic criteria for A-T of the European Society for Immunodeficiencies. Involuntary movements were seen in the form of chorea-athetosis together with tremors. They were examined to assess both peripheral and central hearing was assessed (hearing thresholds). Sound-field testing, tympanometry, acoustic reflexes, Otoacoustic Emissions (OAEs) and Auditory Brainstem Responses (ABR) were done for all of them...
January 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27773422/clinical-characteristics-and-long-term-outcomes-of-movement-disorders-in-childhood-thalamic-tumors
#6
Zsila S Sadighi, Jennifer Zabrowski, Frederick A Boop, Alberto Broniscer, Amar Gajjar, Raja B Khan
BACKGROUND: We studied the outcomes of movement disorders that were associated with childhood thalamic tumors. METHODS: We retrospectively reviewed 83 children with thalamic tumors treated at our institution from 1996 to 2013 to document the incidence and outcome of movement disorders. Magnetic resonance imaging was used to analyze the involvement of thalamic nuclei, and three instruments were used to rate the severity of the disorders. RESULTS: Nine (11%) patients had one or more of the following movement disorders: postural tremor, resting tremor, ballism, dystonia, myoclonus, and athetosis...
December 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27754763/novel-mutation-in-hprt1-causing-a-splicing-error-with-multiple-variations
#7
Shimpei Baba, Takashi Saito, Yasukazu Yamada, Eri Takeshita, Noriko Nomura, Kenichiro Yamada, Nobuaki Wakamatsu, Masayuki Sasaki
Lesch-Nyhan disease (LND) is a rare X-linked recessive disorder caused by deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT), encoded by the HPRT1. To date, nearly all types of mutations have been reported in the whole gene; however, duplication mutations are rare. We here report the case of a 9-month-old boy with LND. He showed developmental delay, athetosis, and dystonic posture from early infancy, but no self-injurious behaviors. Hyperuricemia was detected, and his HPRT enzyme activity in erythrocytes was completely deficient...
January 2, 2017: Nucleosides, Nucleotides & Nucleic Acids
https://www.readbyqxmd.com/read/27329512/auto-immune-anti-n-methyl-d-aspartate-receptor-anti-nmdar-encephalitis-three-case-reports
#8
Fahad A Bashiri, Abdulrahman A Al-Rasheed, Saeed M Hassan, Muddathir H A Hamad, Heba Y El Khashab, Amal Y Kentab, Fahad B AlBadr, Mustafa A Salih
Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is a recently identified auto-immune disorder characterised by severe memory deficit, a decreased level of consciousness, seizures, autonomic dysfunction and movement disorders. Three girls with the disorder are reported; they were aged 4 years, 5 years and 10 months. The 10-month-old infant who is one of the youngest patients reported with anti-NMDAR encephalitis worldwide, had MRI features suggestive of herpes simplex encephalitis (known to trigger anti-NMDAR encephalitis), but CSF PCR for herpes simplex was negative...
August 2017: Paediatrics and International Child Health
https://www.readbyqxmd.com/read/27209088/clonic-perseveration-after-acute-ischemic-stroke-an-insight-into-the-pathophysiological-mechanisms
#9
José Luiz Pedroso, Thiago Cardoso Vale, Marcos Knobel, Rodrigo Meirelles Massaud, Elias Knobel
Poststroke movement disorders may manifest as parkinsonism, dystonia, chorea, ballism, athetosis, tremor, myoclonus, stereotypies, and akathisia. In this article, we describe a patient with clonic perseveration 2 days after an acute ischemic stroke. We discuss the phenomenology and provide insights on possible pathophysiological mechanisms involved.
August 2016: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/26888551/rater-reliability-and-scoring-duration-of-the-quality-function-measure-in-ambulant-children-with-hyperkinetic-movement-disorders
#10
Kylee Tustin, Hortensia Gimeno, Erin Morton, Jonathan Marsden
AIM: To examine intra- and interrater reliability/agreement, and time taken to score, when the Quality Function Measure (QFM) is applied to children with hyperkinetic movement disorders (HMD; e.g. dystonia, chorea, athetosis, tremor, and myoclonus). METHOD: Fifteen ambulant children with HMD participated (eight males, seven females; mean age 13y 7mo, SD 3y 7mo). Three trained raters (two physiotherapists, one occupational therapist) independently scored the QFM using videos of each child performing Gross Motor Function Measure (GMFM) Stand and Walk/Run/Jump dimensions...
August 2016: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/26778811/holmes-tremor-as-a-delayed-complication-of-thalamic-stroke
#11
William Alves Martins, Luiz Carlos Porcello Marrone, Helena Fussiger, Viviane Maria Vedana, Rafael do Amaral Cristovam, Marjorye Z Taietti, Antonio Carlos Huf Marrone
Movement disorders are not commonly associated with stroke. Accordingly, thalamic strokes have rarely been associated with tremor, pseudo-athetosis and dystonic postures. We present a 75-year-old man who developed a disabling tremor 1 year after a posterolateral thalamic stroke. This tremor had low frequency (3-4 Hz), did not disappear on focus and was exacerbated by maintaining a static posture and on target pursuit, which made it very difficult to perform basic functions. MRI demonstrated an old ischemic lesion at the left posterolateral thalamus...
April 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/26664992/dystonia-and-paroxysmal-dyskinesias-under-recognized-movement-disorders-in-domestic-animals-a-comparison-with-human-dystonia-paroxysmal-dyskinesias
#12
REVIEW
Angelika Richter, Melanie Hamann, Jörg Wissel, Holger A Volk
Dystonia is defined as a neurological syndrome characterized by involuntary sustained or intermittent muscle contractions causing twisting, often repetitive movements, and postures. Paroxysmal dyskinesias are episodic movement disorders encompassing dystonia, chorea, athetosis, and ballism in conscious individuals. Several decades of research have enhanced the understanding of the etiology of human dystonia and dyskinesias that are associated with dystonia, but the pathophysiology remains largely unknown. The spontaneous occurrence of hereditary dystonia and paroxysmal dyskinesia is well documented in rodents used as animal models in basic dystonia research...
2015: Frontiers in Veterinary Science
https://www.readbyqxmd.com/read/26595944/medical-devices-exemption-from-premarket-notification-class-ii-devices-electric-positioning-chair-final-order
#13
(no author information available yet)
The Food and Drug Administration (FDA or the Agency) is publishing an order granting a petition requesting exemption from premarket notification requirements for electric positioning chair devices. An electric positioning chair is a device with a motorized positioning control that is intended for medical purposes and that can be adjusted to various positions. These devices are used to provide stability for patients with athetosis (involuntary spasms) and to alter postural positions. This order exempts electric positioning chairs, class II devices, from premarket notification, subject to certain conditions for exemption...
November 20, 2015: Federal Register
https://www.readbyqxmd.com/read/26344814/the-hyperkinetic-movement-disorder-of-foxg1-related-epileptic-dyskinetic-encephalopathy
#14
Elena Cellini, Aglaia Vignoli, Tiziana Pisano, Melania Falchi, Anna Molinaro, Patrizia Accorsi, Alessia Bontacchio, Lorenzo Pinelli, Lucio Giordano, Renzo Guerrini
AIM: Forkhead Box G1 (FOXG1) syndrome is a developmental encephalopathy characterized by postnatal microcephaly, structural brain abnormalities, facial dysmorphisms, severe delay with absent language, defective social interactions, and epilepsy. Abnormal movements in FOXG1 syndrome have often been mentioned but not characterized. METHOD: We clinically assessed and analysed video recordings of eight patients with different mutations or copy number variations affecting the FOXG1 gene and describe the peculiar pattern of the associated movement disorder...
January 2016: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/26132226/improving-target-acquisition-for-computer-users-with-athetosis
#15
Dan Ding, Sergio Peral Rodriguez, Rory A Cooper, Cameron N Riviere
Prior work has highlighted the challenges faced by people with athetosis when trying to acquire on-screen targets using a mouse or trackball. The difficulty of positioning the mouse cursor within a confined area has been identified as a challenging task. We have developed a target acquisition assistance algorithm that features transition assistance via directional gain variation based on target prediction, settling assistance via gain reduction in the vicinity of a predicted target, and expansion of the predicted target as the cursor approaches it...
2015: Assistive Technology: the Official Journal of RESNA
https://www.readbyqxmd.com/read/25992763/images-in-clinical-medicine-hemichoreoathetosis-in-neurosarcoidosis
#16
Ali Ataya, Eloise Harman
A 39-year-old black man presented with a 2-week history of progressively worsening involuntary movements of the left arm that had been sudden in onset. His medical history consisted of hypertension and poorly controlled diabetes that were now under control. A physical examination revealed chorea of..
May 21, 2015: New England Journal of Medicine
https://www.readbyqxmd.com/read/25977237/outcomes-of-cochlear-implanted-children-with-cerebral-palsy-a-holistic-approach
#17
Maria Jaquelini Dias dos Santos, Dionísia Aparecida Cusin Lamônica, Maria Valeriana Leme de Moura Ribeiro, Wendy McCracken, Leandra Tabanez do Nascimento Silva, Orozimbo Alves Costa
OBJECTIVE: Analyze the progress of hearing and language in a group of children with cerebral palsy (CP) who have received cochlear implants (CI) and compare their progress in the clinical and functional domains. METHODS: This is a prospective transdisciplinary study developed within a tertiary referral center, with a group of nine cochlear-implanted children with CP, two- to seven-year-old. The assessments undertaken included audiological, language, and communication assessments complemented by the assessment of functional abilities and the level of independence as evaluated by the Pediatric Evaluation of Disability Inventory (PEDI) and Gross Motor Function Classification System (GMFCS)...
July 2015: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/25825325/evaluating-cerebellar-dentatotomy-for-the-treatment-of-spasticity-with-or-without-dystonia
#18
Manoel J Teixeira, Humberto K Schroeder, Guilherme Lepski
Spasticity represents a common and very often incapacitating neurologic condition, for which a limited number of treatment options are available. Stereotactic ablation of the dentate cerebellar nuclei (dentatotomy) was widely used in the past with variable results. In the present study, we reviewed 12 consecutive cases operated on at the Midland Centre for Neurosurgery and Neurology at Birmingham University (Smetwick, UK) in the 1980s. The following clinical aspects were analyzed: severity of spasticity, occurrence of abnormal movements (dystonia/athetosis), language fluency, gait, and overall clinical condition...
2015: British Journal of Neurosurgery
https://www.readbyqxmd.com/read/25638486/serum-unbound-bilirubin-as-a-predictor-for-clinical-kernicterus-in-extremely-low-birth-weight-infants-at-a-late-age-in-the-neonatal-intensive-care-unit
#19
MULTICENTER STUDY
Ichiro Morioka, Hajime Nakamura, Tsubasa Koda, Hitomi Sakai, Daisuke Kurokawa, Masahiko Yonetani, Takeshi Morisawa, Yoshinori Katayama, Hiroshi Wada, Masahisa Funato, Akihiro Takatera, Akihisa Okumura, Itsuko Sato, Seiji Kawano, Kazumoto Iijima
BACKGROUND: This study aimed to evaluate peak serum total bilirubin (TB) and unbound bilirubin (UB) levels in preterm infants with clinical kernicterus (KI) who were diagnosed by clinical findings during infancy. DESIGN/SUBJECTS: For this multicenter retrospective study, 18 Japanese extremely low birth weight (ELBW) infants with clinical KI were included. Clinical KI was diagnosed based on the presence of motor developmental impairment with/without athetosis, and abnormal magnetic resonance imaging or brainstem auditory evoked potential findings during infancy...
September 2015: Brain & Development
https://www.readbyqxmd.com/read/25565401/forkhead-box-g1-gene-haploinsufficiency-an-emerging-cause-of-dyskinetic-encephalopathy-of-infancy
#20
REVIEW
Chiara Bertossi, Matteo Cassina, Ambra Cappellari, Irene Toldo, Margherita Nosadini, Chiara Rigon, Agnese Suppiej, Stefano Sartori
BACKGROUND: 14q12 deletions, including the Forkhead Box G1 (FOXG1) gene and point mutations of this gene, are associated with a complex encephalopathy described as a congenital variant of Rett syndrome. A mixture of jerks, athetosis, chorea, and dystonia is observed early in life in many patients. The aim of this article is to report on the spectrum of movement disorders associated with FOXG1 haploinsufficiency, as described in the literature. PATIENTS AND METHODS: We provide a review of the cases reported in the literature, adding two new patients...
February 2015: Neuropediatrics
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