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Quoted phrase not found in phrase index: "Ataxia - oculomotor apraxia type 4"
Page 1
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
Ruano L, Melo C, Silva MC, Coutinho P. Ruano L, et al. Neuroepidemiology. 2014;42(3):174-83. doi: 10.1159/000358801. Epub 2014 Mar 5. Neuroepidemiology. 2014. PMID: 24603320 Free article. Review.
The prevalence range of dominant HCA was 0.0-5.6/10(5), with an average of 2.7/10(5) (1.5-4.0/10(5)). Spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease was the most common dominant ataxia, followed by SCA2 and SCA6. The autosomal recessive (A …
The prevalence range of dominant HCA was 0.0-5.6/10(5), with an average of 2.7/10(5) (1.5-4.0/10(5)). Spinocerebellar ataxia …
Clinical Presentation of Ataxia-Telangiectasia.
Alyasin S, Esmaeilzadeh H, Ebrahimi N, Nabavizadeh SH, Nemati H. Alyasin S, et al. Arch Iran Med. 2019 Dec 1;22(12):682-686. Arch Iran Med. 2019. PMID: 31823618
BACKGROUND: Ataxia-telangiectasia is a multi-system disorder in which neurologic impairment and immune deficiency are observed. ...The predominant clinical presentations were tremor and oculocutaneous telangiectasia, observed in 14 (77.8%) patients; dysarthria and oculo …
BACKGROUND: Ataxia-telangiectasia is a multi-system disorder in which neurologic impairment and immune deficiency are observed. ...Th …
Saccades and eye-head coordination in ataxia with oculomotor apraxia type 2.
Panouillères M, Frismand S, Sillan O, Urquizar C, Vighetto A, Pélisson D, Tilikete C. Panouillères M, et al. Cerebellum. 2013 Aug;12(4):557-67. doi: 10.1007/s12311-013-0463-1. Cerebellum. 2013. PMID: 23475383 Clinical Trial.
Ataxia with oculomotor apraxia type 2 (AOA2) is one of the most frequent autosomal recessive cerebellar ataxias. Oculomotor apraxia refers to horizontal gaze failure due to deficits in voluntary/reactive eye movements. ...
Ataxia with oculomotor apraxia type 2 (AOA2) is one of the most frequent autosomal recessive cerebellar ataxi …
A new MRI marker of ataxia with oculomotor apraxia.
Ronsin S, Hannoun S, Thobois S, Petiot P, Vighetto A, Cotton F, Tilikete C. Ronsin S, et al. Eur J Radiol. 2019 Jan;110:187-192. doi: 10.1016/j.ejrad.2018.11.035. Epub 2018 Nov 29. Eur J Radiol. 2019. PMID: 30599859 Free article.
PURPOSE: Evaluate the specificity and sensitivity of disappearance of susceptibility weighted imaging (SWI) dentate nuclei (DN) hypointensity in oculomotor apraxia patients (AOA). METHOD: In this prospective study, 27 patients with autosomal genetic ataxia (A …
PURPOSE: Evaluate the specificity and sensitivity of disappearance of susceptibility weighted imaging (SWI) dentate nuclei (DN) hypointensit …
Ataxia with oculomotor apraxia.
Liu W, Narayanan V. Liu W, et al. Semin Pediatr Neurol. 2008 Dec;15(4):216-20. doi: 10.1016/j.spen.2008.10.014. Semin Pediatr Neurol. 2008. PMID: 19073331
Ataxia-telangiectasia (AT) belongs to a group of recessively inherited disorders characterized by progressive ataxia and oculomotor apraxia. Included in this group are AT, ataxia-telangiectasia-like disorder (ATLD), ataxia with oculomo …
Ataxia-telangiectasia (AT) belongs to a group of recessively inherited disorders characterized by progressive ataxia and oc …
SUMOylated Senataxin functions in genome stability, RNA degradation, and stress granule disassembly, and is linked with inherited ataxia and motor neuron disease.
Bennett CL, La Spada AR. Bennett CL, et al. Mol Genet Genomic Med. 2021 Dec;9(12):e1745. doi: 10.1002/mgg3.1745. Epub 2021 Jul 14. Mol Genet Genomic Med. 2021. PMID: 34263556 Free PMC article. Review.
SETX mutations underlie two inherited neurodegenerative diseases: Ataxia with Oculomotor Apraxia type 2 (AOA2) and Amyotrophic Lateral Sclerosis type 4 (ALS4). ...In addition, AOA2 point mutations have been shown to block SETX SUMOylation …
SETX mutations underlie two inherited neurodegenerative diseases: Ataxia with Oculomotor Apraxia type 2 (AOA2) a …
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.
Schröder S, Yigit G, Li Y, Altmüller J, Büttel HM, Fiedler B, Kretzschmar C, Nürnberg P, Seeger J, Serpieri V, Valente EM, Wollnik B, Boltshauser E, Brockmann K. Schröder S, et al. Orphanet J Rare Dis. 2023 May 2;18(1):101. doi: 10.1186/s13023-023-02706-5. Orphanet J Rare Dis. 2023. PMID: 37131188 Free PMC article.
BACKGROUND: The term congenital ocular motor apraxia (COMA), coined by Cogan in 1952, designates the incapacity to initiate voluntary eye movements performing rapid gaze shift, so called saccades. ...In two individuals without MTS on MRI, pathogenic variants were de …
BACKGROUND: The term congenital ocular motor apraxia (COMA), coined by Cogan in 1952, designates the incapacity to initiate vo …
Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.
Renaud M, Moreira MC, Ben Monga B, Rodriguez D, Debs R, Charles P, Chaouch M, Ferrat F, Laurencin C, Vercueil L, Mallaret M, M'Zahem A, Pacha LA, Tazir M, Tilikete C, Ollagnon E, Ochsner F, Kuntzer T, Jung HH, Beis JM, Netter JC, Djamshidian A, Bower M, Bottani A, Walsh R, Murphy S, Reiley T, Bieth É, Roelens F, Poll-The BT, Lourenço CM, Jardim LB, Straussberg R, Landrieu P, Roze E, Thobois S, Pouget J, Guissart C, Goizet C, Dürr A, Tranchant C, Koenig M, Anheim M. Renaud M, et al. JAMA Neurol. 2018 Apr 1;75(4):495-502. doi: 10.1001/jamaneurol.2017.4373. JAMA Neurol. 2018. PMID: 29356829 Free PMC article.
IMPORTANCE: Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive cerebellar ataxia due to mutations in the aprataxin gene (APTX) that is characterized by early-onset cerebellar ataxia, oculomotor apraxia, a …
IMPORTANCE: Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive cerebellar ataxia due …
Progressive Ataxia with Elevated Alpha-Fetoprotein: Diagnostic Issues and Review of the Literature.
Paucar M, Taylor AMR, Hadjivassiliou M, Fogel BL, Svenningsson P. Paucar M, et al. Tremor Other Hyperkinet Mov (N Y). 2019 Oct 10;9. doi: 10.7916/tohm.v0.708. eCollection 2019. Tremor Other Hyperkinet Mov (N Y). 2019. PMID: 31656689 Free PMC article. Review.
BACKGROUND: Ataxias represent a challenging group of disorders due to significant clinical overlap. ...CASE REPORT: Ataxia, polyneuropathy, and mild elevation of AFP are features compatible with ataxia with oculomotor apraxia type 2 (AOA2 …
BACKGROUND: Ataxias represent a challenging group of disorders due to significant clinical overlap. ...CASE REPORT: Ataxia, po …
Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.
Anheim M, Monga B, Fleury M, Charles P, Barbot C, Salih M, Delaunoy JP, Fritsch M, Arning L, Synofzik M, Schöls L, Sequeiros J, Goizet C, Marelli C, Le Ber I, Koht J, Gazulla J, De Bleecker J, Mukhtar M, Drouot N, Ali-Pacha L, Benhassine T, Chbicheb M, M'Zahem A, Hamri A, Chabrol B, Pouget J, Murphy R, Watanabe M, Coutinho P, Tazir M, Durr A, Brice A, Tranchant C, Koenig M. Anheim M, et al. Brain. 2009 Oct;132(Pt 10):2688-98. doi: 10.1093/brain/awp211. Epub 2009 Aug 20. Brain. 2009. PMID: 19696032
Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to mutations in the senataxin gene, causing progressive cerebellar ataxia with peripheral neuropathy, cerebellar atrophy, occasional oculomotor apraxia …
Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to mutations in the senataxin …
29 results