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Ocular motor apraxia

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https://www.readbyqxmd.com/read/29507134/pearls-oy-sters-ocular-motor-apraxia-as-essential-differential-diagnosis-to-supranuclear-gaze-palsy-eyes-up
#1
Kerstin Schweyer, Marc Aurel Busche, Jochen Hammes, Andreas Zwergal, Carsten Buhmann, Thilo van Eimeren, Günter U Höglinger
No abstract text is available yet for this article.
March 6, 2018: Neurology
https://www.readbyqxmd.com/read/29052317/defective-ciliogenesis-in-inpp5e-related-joubert-syndrome
#2
Isabel Hardee, Ariane Soldatos, Mariska Davids, Thierry Vilboux, Camilo Toro, Karen L David, Carlos R Ferreira, Michele Nehrebecky, Joseph Snow, Audrey Thurm, Theo Heller, Ellen F Macnamara, Meral Gunay-Aygun, Wadih M Zein, William A Gahl, May Christine V Malicdan
Joubert syndrome is a neurodevelopmental disorder, characterized by malformation of the mid and hindbrain leading to the pathognomonic molar tooth appearance of the brainstem and cerebellum on axial MRI. Core clinical manifestations include hypotonia, tachypnea/apnea, ataxia, ocular motor apraxia, and developmental delay of varying degrees. In addition, a subset of patients has retinal dystrophy, chorioretinal colobomas, hepatorenal fibrocystic disease, and polydactyly. Joubert syndrome exhibits genetic heterogeneity, with mutations identified in more than 30 genes, including INPP5E, a gene encoding inositol polyphosphate 5-phosphatase E, which is important in the development and stability of the primary cilium...
December 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28566184/unexpectedly-mild-phenotype-in-an-ataxic-family-with-a-two-base-deletion-in-the-aptx-gene
#3
Makito Hirano, Ryusuke Matsumura, Yusaku Nakamura, Kazumasa Saigoh, Hikaru Sakamoto, Shuichi Ueno, Hiroya Inoue, Susumu Kusunoki
INTRODUCTION: Early onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH)/ataxia with oculomotor apraxia 1 (AOA1) is an autosomal recessive disorder caused by mutations in the APTX gene. In contrast to the recent progress on the molecular mechanism of aprataxin in DNA repair, the genotype and phenotype correlation has not been fully established. A previous study demonstrated that patients with truncation mutations had earlier onset of disease than those with missense mutations METHODS: Genomic DNA analysis was performed in a consanguineous family with relatively late-onset EAOH/AOA1...
July 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28376021/vertical-head-thrusting-in-acquired-supranuclear-vertical-ophthalmoplegia
#4
Yeon-Hee Lee, Seong-Hae Jeong, Hyo-Jung Kim, Jeong-Min Hwang, Woohyuk Lee, Ji-Soo Kim
Patients with congenital ocular motor apraxia (OMA) typically show head thrusts while attempting to shift gaze. In congenital OMA, this compensatory head motion mostly occurs in the horizontal plane. Two patients with acquired palsy of voluntary vertical gaze and continuous upward gaze deviation, one from aortic surgery and the other from multiple infarctions involving the mesodiencephalic junction, showed intermittent downward head thrusting to redirect the eyes straight ahead or downward. The head thrusting behavior improved markedly after surgical correction of the upward gaze deviation in one patient...
December 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/28282710/early-onset-friedreich-s-ataxia-with-oculomotor-apraxia
#5
Amene Saghazadeh, Sina Hafizi, Firouzeh Hosseini, Mahmoud Reza Ashrafi, Nima Rezaei
Friedreich's ataxia (FRDA) is a rare autosomal recessive spinocerebellar ataxia which in the majority of cases is associated with a GAA-trinucleotide repeat expansion in the first intron of Frataxin gene located on chromosome 9. The clinical features include progressive gait and limb ataxia, cerebellar dysarthria, neuropathy, optic atrophy, and loss of vibration and proprioception. Ataxia with ocular motor apraxia type 1 (AOA1) is another autosomal recessive cerebellar ataxia which is associated with oculomotor apraxia, hypoalbuminaemia, and hypercholesterolemia...
February 2017: Acta Medica Iranica
https://www.readbyqxmd.com/read/28002403/xrcc1-mutation-is-associated-with-parp1-hyperactivation-and-cerebellar-ataxia
#6
Nicolas C Hoch, Hana Hanzlikova, Stuart L Rulten, Martine Tétreault, Emilia Komulainen, Limei Ju, Peter Hornyak, Zhihong Zeng, William Gittens, Stephanie A Rey, Kevin Staras, Grazia M S Mancini, Peter J McKinnon, Zhao-Qi Wang, Justin D Wagner, Grace Yoon, Keith W Caldecott
XRCC1 is a molecular scaffold protein that assembles multi-protein complexes involved in DNA single-strand break repair. Here we show that biallelic mutations in the human XRCC1 gene are associated with ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia. Cells from a patient with mutations in XRCC1 exhibited not only reduced rates of single-strand break repair but also elevated levels of protein ADP-ribosylation. This latter phenotype is recapitulated in a related syndrome caused by mutations in the XRCC1 partner protein PNKP and implicates hyperactivation of poly(ADP-ribose) polymerase/s as a cause of cerebellar ataxia...
January 5, 2017: Nature
https://www.readbyqxmd.com/read/28001274/language-behavior-and-neurodevelopment-in-joubert-syndrome-a-case-report
#7
Dionísia Aparecida Cusin Lamônica, Camila da Costa Ribeiro, Antonio Richieri-Costa, Célia Maria Giacheti
The Joubert syndrome (JS) is a rare, heterogeneous genetic condition among the ciliopathies. More than 20 genes have been identified associated with this phenotype. The main manifestations include hypotonia, ataxia, psychomotor retardation, ocular-motor apraxia and neonatal respiratory abnormalities. The objective of this paper was to present language and neurodevelopmental findings of an individual diagnosed with JS. The following procedures were performed: anamnesis, clinical genetic evaluation observation of communicative behavior, evaluation of language, the Denver Developmental Screening Test II (DDST-II) and the Early Language Milestone Scale (ELMS)...
November 2016: CoDAS
https://www.readbyqxmd.com/read/27956932/a-supranuclear-disorder-of-ocular-motility-as-a-rare-initial-presentation-of-motor-neurone-disease
#8
C Yu-Wai-Man, K Petheram, A W Davidson, T Williams, P G Griffiths
A case is described of motor neurone disease presenting with an ocular motor disorder characterised by saccadic intrusions, impaired horizontal and vertical saccades, and apraxia of eyelid opening. The occurrence of eye movement abnormalities in motor neurone disease is discussed.
2011: Neuro-ophthalmology
https://www.readbyqxmd.com/read/27473762/nosological-delineation-of-congenital-ocular-motor-apraxia-type-cogan-an-observational-study
#9
Sarah Wente, Simone Schröder, Johannes Buckard, Hans-Martin Büttel, Florian von Deimling, Wilfried Diener, Martin Häussler, Susanne Hübschle, Silvia Kinder, Gerhard Kurlemann, Christoph Kretzschmar, Michael Lingen, Wiebke Maroske, Dirk Mundt, Iciar Sánchez-Albisua, Jürgen Seeger, Sandra P Toelle, Eugen Boltshauser, Knut Brockmann
BACKGROUND: The nosological assignment of congenital ocular motor apraxia type Cogan (COMA) is still controversial. While regarded as a distinct entity by some authorities including the Online Mendelian Inheritance in Man catalog of genetic disorders, others consider COMA merely a clinical symptom. METHODS: We performed a retrospective multicenter data collection study with re-evaluation of clinical and neuroimaging data of 21 previously unreported patients (8 female, 13 male, ages ranging from 2 to 24 years) diagnosed as having COMA...
July 29, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27470939/neurological-disorders-associated-with-dna-strand-break-processing-enzymes
#10
REVIEW
Bingcheng Jiang, J N Mark Glover, Michael Weinfeld
The termini of DNA strand breaks induced by reactive oxygen species or by abortive DNA metabolic intermediates require processing to enable subsequent gap filling and ligation to proceed. The three proteins, tyrosyl DNA-phosphodiesterase 1 (TDP1), aprataxin (APTX) and polynucleotide kinase/phosphatase (PNKP) each act on a discrete set of modified strand-break termini. Recently, a series of neurodegenerative and neurodevelopmental disorders have been associated with mutations in the genes coding for these proteins...
January 2017: Mechanisms of Ageing and Development
https://www.readbyqxmd.com/read/27377014/mks1-mutations-cause-joubert-syndrome-with-agenesis-of-the-corpus-callosum
#11
REVIEW
Ingrid Bader, E Decker, J A Mayr, V Lunzer, J Koch, E Boltshauser, W Sperl, P Pietsch, B Ertl-Wagner, H Bolz, C Bergmann, O Rittinger
Joubert syndrome (JS) is a clinically and genetically heterogeneous ciliopathy characterized by episodic hyperpnea and apnea, hypotonia, ataxia, cognitive impairment and ocular motor apraxia. The "molar tooth sign" is pathognomonic of this condition. Mutations in the MKS1 gene are a major cause of Meckel-Gruber syndrome (MKS), the most common form of syndromic neural tube defects, frequently resulting in perinatal lethality. We present the phenotype and genotype of a child with severe JS and agenesis of the corpus callosum (ACC)...
August 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/26932191/clinical-neuroradiological-and-molecular-characterization-of-cerebellar-dysplasia-with-cysts-poretti-boltshauser-syndrome
#12
Alessia Micalizzi, Andrea Poretti, Marta Romani, Monia Ginevrino, Tommaso Mazza, Chiara Aiello, Ginevra Zanni, Bastian Baumgartner, Renato Borgatti, Knut Brockmann, Ana Camacho, Gaetano Cantalupo, Martin Haeusler, Christiane Hikel, Andrea Klein, Giorgia Mandrile, Eugenio Mercuri, Dietz Rating, Romina Romaniello, Filippo Maria Santorelli, Mareike Schimmel, Luigina Spaccini, Serap Teber, Arpad von Moers, Sarah Wente, Andreas Ziegler, Andrea Zonta, Enrico Bertini, Eugen Boltshauser, Enza Maria Valente
Cerebellar dysplasia with cysts and abnormal shape of the fourth ventricle, in the absence of significant supratentorial anomalies and of muscular involvement, defines recessively inherited Poretti-Boltshauser syndrome (PBS). Clinical features comprise non-progressive cerebellar ataxia, intellectual disability of variable degree, language impairment, ocular motor apraxia and frequent occurrence of myopia or retinopathy. Recently, loss-of-function variants in the LAMA1 gene were identified in six probands with PBS...
August 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/26748598/role-of-reverse-phenotyping-in-interpretation-of-next-generation-sequencing-data-and-a-review-of-inpp5e-related-disorders
#13
REVIEW
Christian de Goede, Wyatt W Yue, Guanhua Yan, Shyamala Ariyaratnam, Kate E Chandler, Laura Downes, Nasaim Khan, Meyyammai Mohan, Martin Lowe, Siddharth Banka
INTRODUCTION: Next Generation Sequencing (NGS) is a useful tool in diagnosis of rare disorders but the interpretation of data can be challenging in clinical settings. We present results of extended studies on a family of multiple members with global developmental delay and learning disability, where another research group postulated the underlying cause to be a homozygous RABL6 missense variant. METHODS AND RESULTS: Using data from the Exome Variant Server, we show that missense RABL6 variants are unlikely to cause early onset rare developmental disorder...
March 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/26541515/a-homozygous-ahi1-gene-mutation-p-thr304asnfsx6-in-a-consanguineous-moroccan-family-with-joubert-syndrome-a-case-report
#14
Siham Chafai-Elalaoui, Matthias Chalon, Nadia Elkhartoufi, Yamna Kriouele, Maria Mansouri, Tania Attié-Bitach, Abdelaziz Sefiani, Lekbir Baala
INTRODUCTION: Joubert syndrome is a rare congenital disorder characterized by brain malformation, developmental delay with hypotonia, ocular motor apraxia, and breathing abnormalities. Joubert syndrome is a genetically highly heterogeneous ciliopathy disorder with 23 identified causative genes. The diagnosis is based on brain imaging showing the "molar tooth sign" with cerebellar vermis agenesis. We describe a consanguineous Moroccan family with three affected siblings (18-year-old boy, 13-year-old girl, and 10-year-old boy) showing typical signs of Joubert syndrome, and attempt to identify the underlying genetic defect in this family...
2015: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/26256098/slow-mitochondrial-repair-of-5-amp-renders-mtdna-susceptible-to-damage-in-aptx-deficient-cells
#15
Mansour Akbari, Peter Sykora, Vilhelm A Bohr
Aborted DNA ligation events in eukaryotic cells can generate 5'-adenylated (5'-AMP) DNA termini that can be removed from DNA by aprataxin (APTX). Mutations in APTX cause an inherited human disease syndrome characterized by early-onset progressive ataxia with ocular motor apraxia (AOA1). APTX is found in the nuclei and mitochondria of eukaryotic cells. Depletion of APTX causes mitochondrial dysfunction and renders the mitochondrial genome, but not the nuclear genome susceptible to damage. The biochemical processes that link APTX deficiency to mitochondrial dysfunction have not been well elucidated...
2015: Scientific Reports
https://www.readbyqxmd.com/read/25783597/infantile-onset-saccade-initiation-delay-congenital-ocular-motor-apraxia
#16
Michael S Salman
Infantile-onset saccade initiation delay, also known as congenital ocular motor apraxia, typically presents in early infancy with horizontal head thrusts once head control is achieved. Defective initiation of horizontal saccades and saccade hypometria with normal saccadic velocity are characteristic findings. Isolated impairment of vertical saccades is rare. Impaired smooth ocular pursuit may be seen. Other relatively common features include developmental delay, hypotonia, ataxia, or clumsiness. Brain MRI may be normal or show a diverse range of abnormalities, most commonly involving the cerebellum...
May 2015: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/25725189/the-effect-of-goals-and-vision-on-movements-a-case-study-of-optic-ataxia-and-limb-apraxia
#17
Elisabetta Ambron, Angelika Lingnau, Alberta Lunardelli, Valentina Pesavento, Raffaella I Rumiati
Normally we can perform a variety of goal-directed movements effortlessly. However, damage to the parietal cortex may dramatically reduce this ability, giving rise to optic ataxia and limb apraxia. Patients with optic ataxia show clear misreaches towards targets when presented in the peripheral visual field, whereas limb apraxia refers to the inability to use common tools or to imitate simple gestures. In the present paper we describe the case of a left-brain damaged patient, who presented both symptoms. We systematically investigated both spatial and temporal parameters of his movements, when asked to reach and grasp common objects to move (Experiment 1) or to use them (Experiment 2), presented either in the central or peripheral visual field...
April 2015: Brain and Cognition
https://www.readbyqxmd.com/read/25402377/a-sox3-xq26-3-27-3-duplication-in-a-boy-with-growth-hormone-deficiency-ocular-dyspraxia-and-intellectual-disability-a-long-term-follow-up-and-literature-review
#18
REVIEW
Stefano Stagi, Elisabetta Lapi, Marilena Pantaleo, Giovanna Traficante, Sabrina Giglio, Salvatore Seminara, Maurizio de Martino
OBJECTIVE: SOX3 is located on the long arm of the X chromosome (Xq27.1) and both the under- and over-expression of this gene have been reported in cases of hypopituitarism with or without intellectual disabilities. Nevertheless, only a few cases have as yet been extensively described. DESIGN: A 3-year 11 month-old male was brought in for growth failure (height -2.4 SDS). The patient was born at term of a second uneventful pregnancy by caesarean section for podalic presentation: the birth weight (0...
October 2014: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/25173907/congenital-ocular-motor-apraxia-with-wheel-rolling-ocular-torsion-a-neurodiagnostic-phenotype-of-joubert-syndrome
#19
Eleni Papanagnu, Lindsay D Klaehn, Genie M Bang, Rafif Ghadban, Brian G Mohney, Michael C Brodsky
Joubert syndrome is a multisystem disorder that is associated with a constellation of cyclic ocular motor disturbances. We describe 2 children with congenital ocular motor apraxia who displayed wheel-rolling torsional eye movements and tonic alternating cyclodeviations of the eyes on retinal examination as a neurodiagnostic phenotype of Joubert syndrome.
August 2014: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/24814865/horizontal-head-titubation-in-infants-with-joubert-syndrome-a-new-finding
#20
Andrea Poretti, Hans-Jürgen Christen, Lindsay E Elton, Manuela Baumgartner, Georg Christoph Korenke, Biayna Sukhudyan, Sven Hethey, Elizabeth Cross, Maja Steinlin, Eugen Boltshauser
AIM: Head thrusts are well documented in Joubert syndrome and ocular motor apraxia. We provide a detailed clinical characterization of head titubation in 13 young children with Joubert syndrome. METHOD: Detailed characterization of head titubation was assessed by targeted clinical evaluation and/or analysis of videos. RESULTS: In 12 of 13 children (eight males, five females; median age 6y, range 2mo-15y) head titubation was first recognized in the first 2 months of age and decreased in severity until spontaneous resolution...
October 2014: Developmental Medicine and Child Neurology
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