Abstract
Ocular motor apraxia is a syndrome of gaze shifting failure, mainly saccades, in which patients show absent or highly delayed voluntary eye movements, although other eye movements can be preserved. One phenotype is characterized by absent or great disability to perform horizontal and vertical voluntary gaze shifting, with preservation of slow and quick phases of vestibular nystagmus. It is observed in acute brain lesions and adult-onset neurodegenerative diseases and results from dysfunction of cortical (and basal ganglia) control of voluntary eye movements. The congenital form, renamed “infantile-onset saccade initiation delay,” is characterized by head thrust, highly hypometric staircase saccades, increased saccade latency, and impaired quick phases of nystagmus. It may result from involvement of superior collicular, cerebellar, and/or cerebrocerebellar circuits of conjugate gaze shifting. This last phenotype is close to the one associated with Joubert syndrome, some Gaucher disease patients, ataxia-telangiectasia, and ataxia with oculomotor apraxia.
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References
Altrocchi, P. H., & Menkes, J. H. (1960). Congenital ocular motor apraxia. Brain, 83, 579–588.
Anheim, M., Monga, B., Fleury, M., Charles, P., Barbot, C., Salih, M., et al. (2009). Ataxia with oculomotor apraxia type 2: Clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. Brain, 132(Pt 10), 2688–2698.
Benko, W., Ries, M., Wiggs, E. A., Brady, R. O., Schiffmann, R., & Fitzgibbon, E. J. (2011). The saccadic and neurological deficits in type 3 Gaucher disease. PLoS One, 6(7), e22410.
Benson, D. F., Davis, R. J., & Snyder, B. D. (1988). Posterior cortical atrophy. Archives of Neurology, 45(7), 789–793.
Biotti, D., & Pisella, L. (2012). Vighetto A. [Balint syndrome and spatial functions of the parietal lobe]. Revue Neurologique (Paris), 168(10), 741–753.
Bohlega, S., Kambouris, M., Shahid, M., Al Homsi, M., & Al Sous, W. (2000). Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC). Neurology, 54(1), 261–263.
Bokde, A. L., Pietrini, P., Ibanez, V., Furey, M. L., Alexander, G. E., Graff-Radford, N. R., et al. (2001). The effect of brain atrophy on cerebral hypometabolism in the visual variant of Alzheimer disease. Archives of Neurology, 58(3), 480–486.
Bras, J., Alonso, I., Barbot, C., Costa, M. M., Darwent, L., Orme, T., et al. (2015). Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. American Journal of Human Genetics, 96(3), 474–479.
Chen, J. J., & Thurtell, M. J. (2012). Neurological picture. Acquired ocular motor apraxia due to bifrontal haemorrhages. Journal of Neurology, Neurosurgery, and Psychiatry, 83(11), 1117–1118.
Chung, P. W., Moon, H. S., Song, H. S., & Kim, Y. B. (2006). Ocular motor apraxia after sequential bilateral striatal infarctions. Journal of Clinical Neurology, 2(2), 134–136.
Clausi, S., De Luca, M., Chiricozzi, F. R., Tedesco, A. M., Casali, C., Molinari, M., et al. (2013). Oculomotor deficits affect neuropsychological performance in oculomotor apraxia type 2. Cortex, 49(3), 691–701.
Cogan, D. G. (1952). A type of congenital ocular motor apraxia presenting jerky head movements. Transactions – American Academy of Ophthalmology and Otolaryngology, 56(6), 853–862.
Cogan, D. G. (1965). Ophthalmic manifestations of bilateral non-occipital cerebral lesions. The British Journal of Ophthalmology, 49, 281–297.
Cogan, D. G., & Adams, R. D. (1953). A type of paralysis of conjugate gaze (ocular motor apraxia). A.M.A. Archives of Ophthalmology, 50(4), 434–442.
Cogan, D. G., Chu, F. C., Reingold, D., & Barranger, J. (1981). Ocular motor signs in some metabolic diseases. Archives of Ophthalmology, 99(10), 1802–1808.
Crutch, S. J., Schott, J. M., Rabinovici, G. D., Murray, M., Snowden, J. S., van der Flier, W. M., et al. (2017). Consensus classification of posterior cortical atrophy. Alzheimer’s & Dementia, 13(8), 870–884.
Date, H., Onodera, O., Tanaka, H., Iwabuchi, K., Uekawa, K., Igarashi, S., et al. (2001). Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. Nature Genetics, 29(2), 184–188.
Dehaene, I., & Lammens, M. (1991). Paralysis of saccades and pursuit: Clinicopathologic study. Neurology, 41(3), 414–415.
Delia, D., Piane, M., Buscemi, G., Savio, C., Palmeri, S., Lulli, P., et al. (2004). MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder. Human Molecular Genetics, 13(18), 2155–2163.
Desestret, V., Streichenberger, N., Panouilleres, M., Pelisson, D., Plus, B., Duyckaerts, C., et al. (2013). An elderly woman with difficulty reading and abnormal eye movements. Journal of Neuro-Ophthalmology, 33(3), 296–301.
Etcharry-Bouyx, F., Le Gall, D., Jarry, C., & Osiurak, F. (2017). Gestural apraxia. Revue Neurologique (Paris), 173(7–8), 430–439.
Fernet, M., Gribaa, M., Salih, M. A., Seidahmed, M. Z., Hall, J., & Koenig, M. (2005). Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder. Human Molecular Genetics, 14(2), 307–318.
Fogel, B. L., & Perlman, S. (2007). Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurology, 6(3), 245–257.
Formaglio, M., Costes, N., Seguin, J., Tholance, Y., Le Bars, D., Roullet-Solignac, I., et al. (2011). In vivo demonstration of amyloid burden in posterior cortical atrophy: A case series with PET and CSF findings. Journal of Neurology, 258(10), 1841–1851.
Gaymard, B. (2012). Cortical and sub-cortical control of saccades and clinical application. Revue Neurologique (Paris), 168, 734–740.
Genc, B. O., Genc, E., Acik, L., Ilhan, S., & Paksoy, Y. (2004). Acquired ocular motor apraxia from bilateral frontoparietal infarcts associated with Takayasu arteritis. Journal of Neurology, Neurosurgery, and Psychiatry, 75(11), 1651–1652.
Gross-Tsur, V., Har-Even, Y., Gutman, I., & Amir, N. (1989). Oculomotor apraxia: The presenting sign of Gaucher disease. Pediatric Neurology, 5(2), 128–129.
Harris, C. M., Shawkat, F., Russell-Eggitt, I., Wilson, J., & Taylor, D. (1996). Intermittent horizontal saccade failure (‘ocular motor apraxia’) in children. The British Journal of Ophthalmology, 80(2), 151–158.
Hecaen, H., & De Ajuriaguerra, J. (1954). Balint’s syndrome (psychic paralysis of visual fixation) and its minor forms. Brain, 77(3), 373–400.
Hoch, N. C., Hanzlikova, H., Rulten, S. L., Tetreault, M., Komulainen, E., Ju, L., et al. (2017). XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia. Nature, 541(7635), 87–91.
Joubert, M., Eisenring, J. J., Robb, J. P., & Andermann, F. (1969). Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology, 19(9), 813–825.
Kas, A., de Souza, L. C., Samri, D., Bartolomeo, P., Lacomblez, L., Kalafat, M., et al. (2011). Neural correlates of cognitive impairment in posterior cortical atrophy. Brain, 134(Pt 5), 1464–1478.
Kennard, C. (2011). Disorders of higher gaze control. Handbook of Clinical Neurology, 102, 379–402.
Klivenyi, P., Nemeth, D., Sefcsik, T., Janacsek, K., Hoffmann, I., Haden, G. P., et al. (2012). Cognitive functions in ataxia with oculomotor apraxia type 2. Frontiers in Neurology, 3, 125.
Le Ber, I., Moreira, M. C., Rivaud-Pechoux, S., Chamayou, C., Ochsner, F., Kuntzer, T., et al. (2003). Cerebellar ataxia with oculomotor apraxia type 1: Clinical and genetic studies. Brain, 126(Pt 12), 2761–2772.
Le Ber, I., Bouslam, N., Rivaud-Pechoux, S., Guimaraes, J., Benomar, A., Chamayou, C., et al. (2004). Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: A clinical and genetic study in 18 patients. Brain, 127(Pt 4), 759–767.
Lee, Y. H., Jeong, S. H., Kim, H. J., Hwang, J. M., Lee, W., & Kim, J. S. (2017). Vertical head thrusting in acquired supranuclear vertical ophthalmoplegia. Journal of Neuro-Ophthalmology, 37(4), 386–389.
Leigh, R. J., & Zee, D. S. (2015). The neurology of eye movements (4th ed.). Oxford: University Press.
Lewis, R. F. (2001). Ocular motor apraxia and ataxia-telangiectasia. Archives of Neurology, 58(8), 1312.
Lewis, R. F., Lederman, H. M., & Crawford, T. O. (1999). Ocular motor abnormalities in ataxia telangiectasia. Annals of Neurology, 46(3), 287–295.
Lloyd-Smith Sequeira, A., Rizzo, J. R., & Rucker, J. C. (2017). Clinical approach to supranuclear brainstem saccadic gaze palsies. Frontiers in Neurology, 8, 429.
Lohmann, E., Kruger, S., Hauser, A. K., Hanagasi, H., Guven, G., Erginel-Unaltuna, N., et al. (2015). Clinical variability in ataxia-telangiectasia. Journal of Neurology, 262(7), 1724–1727.
Manto, M., Bower, J. M., Conforto, A. B., Delgado-Garcia, J. M., da Guarda, S. N., Gerwig, M., et al. (2012). Consensus paper: Roles of the cerebellum in motor control – The diversity of ideas on cerebellar involvement in movement. Cerebellum, 11(2), 457–487.
Maria, B. L., Hoang, K. B., Tusa, R. J., Mancuso, A. A., Hamed, L. M., Quisling, R. G., et al. (1997). “Joubert syndrome” revisited: Key ocular motor signs with magnetic resonance imaging correlation. Journal of Child Neurology, 12(7), 423–430.
Meneret, A., Ahmar-Beaugendre, Y., Rieunier, G., Mahlaoui, N., Gaymard, B., Apartis, E., et al. (2014). The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia. Neurology, 83(12), 1087–1095.
Michel, F., & Jeannerod, M. (2005). Our paper on “Visual orientation impairment in the three dimensions of space. An anatomical case”. Cortex, 41(2), 245–247.
Monaco, F., Pirisi, A., Sechi, G. P., & Cossu, G. (1980). Acquired ocular-motor apraxia and right-sided cortical angioma. Cortex, 16(1), 159–167.
Moodley, K. K., Perani, D., Minati, L., Della Rosa, P. A., Pennycook, F., Dickson, J. C., et al. (2015). Simultaneous PET-MRI studies of the concordance of atrophy and hypometabolism in syndromic variants of Alzheimer’s disease and frontotemporal dementia: An extended case series. Journal of Alzheimer’s Disease, 46(3), 639–653.
Moreira, M. C., Barbot, C., Tachi, N., Kozuka, N., Uchida, E., Gibson, T., et al. (2001). The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. Nature Genetics, 29(2), 189–193.
Moreira, M. C., Klur, S., Watanabe, M., Nemeth, A. H., Le Ber, I., Moniz, J. C., et al. (2004). Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nature Genetics, 36(3), 225–227.
Nagappa, M., Bindu, P. S., Taly, A. B., & Sinha, S. (2015). Oculomotor apraxia in Gaucher disease. Pediatric Neurology, 52(4), 468–469.
Nyffeler, T., Pflugshaupt, T., Hofer, H., Baas, U., Gutbrod, K., von Wartburg, R., et al. (2005). Oculomotor behaviour in simultanagnosia: A longitudinal case study. Neuropsychologia, 43(11), 1591–1597.
Orssaud, C., Ingster-Moati, I., Roche, O., Bui Quoc, E., & Dufier, J. L. (2009). Familial congenital oculomotor apraxia: Clinical and electro-oculographic features. European Journal of Paediatric Neurology, 13(4), 370–372.
Panouilleres, M., Frismand, S., Sillan, O., Urquizar, C., Vighetto, A., Pelisson, D., et al. (2013). Saccades and eye-head coordination in ataxia with oculomotor apraxia type 2. Cerebellum, 12(4), 557–567.
Papanagnu, E., Klaehn, L. D., Bang, G. M., Ghadban, R., Mohney, B. G., & Brodsky, M. C. (2014). Congenital ocular motor apraxia with wheel-rolling ocular torsion-a neurodiagnostic phenotype of Joubert syndrome. Journal of AAPOS, 18(4), 404–407.
Pierrot-Deseilligny, C., Gray, F., & Brunet, P. (1986). Infarcts of both inferior parietal lobules with impairment of visually guided eye movements, peripheral visual inattention and optic ataxia. Brain, 109(Pt 1), 81–97.
Pierrot-Deseilligny, C., Gautier, J. C., & Loron, P. (1988). Acquired ocular motor apraxia due to bilateral frontoparietal infarcts. Annals of Neurology, 23(2), 199–202.
Prasad, P., & Nair, S. (1994). Congenital ocular motor apraxia: Sporadic and familial. Support for natural resolution. Journal of Neuro-Ophthalmology, 14(2), 102–104.
Rambold, H., Moser, A., Zurowski, B., Gbadamosi, J., Kompf, D., Sprenger, A., et al. (2006). Saccade initiation in ocular motor apraxia. Journal of Neurology, 253(7), 950–952.
Renner, J. A., Burns, J. M., Hou, C. E., McKeel, D. W., Jr., Storandt, M., & Morris, J. C. (2004). Progressive posterior cortical dysfunction: A clinicopathologic series. Neurology, 63(7), 1175–1180.
Romani, M., Micalizzi, A., & Valente, E. M. (2013). Joubert syndrome: Congenital cerebellar ataxia with the molar tooth. Lancet Neurology, 12(9), 894–905.
Salman, M. S. (2015). Infantile-onset saccade initiation delay (congenital ocular motor apraxia). Current Neurology and Neuroscience Reports, 15(5), 24.
Salman, M. S., & Ikeda, K. M. (2010). Disconnections in infantile-onset saccade initiation delay: A hypothesis. The Canadian Journal of Neurological Sciences, 37(6), 779–782.
Salman, M. S., & Ikeda, K. M. (2013). The syndrome of infantile-onset saccade initiation delay. The Canadian Journal of Neurological Sciences, 40(2), 235–240.
Salman, M. S., & Ikeda, K. M. (2014). Do the clinical features in infantile-onset saccade initiation delay (congenital ocular motor apraxia) correlate with brain magnetic resonance imaging findings? Journal of Neuro-Ophthalmology, 34(3), 246–250.
Schiess, N., Zee, D. S., Siddiqui, K. A., Szolics, M., & El-Hattab, A. W. (2017). Novel PNKP mutation in siblings with ataxia-oculomotor apraxia type 4. Journal of Neurogenetics, 31(1–2), 23–25.
Shaikh, A. G., Marti, S., Tarnutzer, A. A., Palla, A., Crawford, T. O., Straumann, D., et al. (2009). Gaze fixation deficits and their implication in ataxia-telangiectasia. Journal of Neurology, Neurosurgery, and Psychiatry, 80(8), 858–864.
Shaikh, A. G., Marti, S., Tarnutzer, A. A., Palla, A., Crawford, T. O., Straumann, D., et al. (2011). Ataxia telangiectasia: A “disease model” to understand the cerebellar control of vestibular reflexes. Journal of Neurophysiology, 105(6), 3034–3041.
Sharpe, J. A., Lo, A. W., & Rabinovitch, H. E. (1979). Control of the saccadic and smooth pursuit systems after cerebral hemidecortication. Brain, 102(2), 387–403.
Solomon, D., Ramat, S., Tomsak, R. L., Reich, S. G., Shin, R. K., Zee, D. S., et al. (2008). Saccadic palsy after cardiac surgery: Characteristics and pathogenesis. Annals of Neurology, 63(3), 355–365.
Sturm, V., Leiba, H., Menke, M. N., Valente, E. M., Poretti, A., Landau, K., et al. (2010). Ophthalmological findings in Joubert syndrome. Eye (London, England), 24(2), 222–225.
Tang-Wai, D. F., Graff-Radford, N. R., Boeve, B. F., Dickson, D. W., Parisi, J. E., Crook, R., et al. (2004). Clinical, genetic, and neuropathologic characteristics of posterior cortical atrophy. Neurology, 63(7), 1168–1174.
Tranchant, C., Fleury, M., Moreira, M. C., Koenig, M., & Warter, J. M. (2003). Phenotypic variability of aprataxin gene mutations. Neurology, 60(5), 868–870.
Tusa, R. J., & Hove, M. T. (1999). Ocular and oculomotor signs in Joubert syndrome. Journal of Child Neurology, 14(10), 621–627.
Weiss, A. H., Doherty, D., Parisi, M., Shaw, D., Glass, I., & Phillips, J. O. (2009). Eye movement abnormalities in Joubert syndrome. Investigative Ophthalmology & Visual Science, 50(10), 4669–4677.
Wente, S., Schroder, S., Buckard, J., Buttel, H. M., von Deimling, F., Diener, W., et al. (2016). Nosological delineation of congenital ocular motor apraxia type Cogan: An observational study. Orphanet Journal of Rare Diseases, 11(1), 104.
Yee, R. D., & Purvin, V. A. (2007). Acquired ocular motor apraxia after aortic surgery. Transactions of the American Ophthalmological Society, 105, 152–158; discussion 8–9.
Zackon, D. H., & Noel, L. P. (1991). Ocular motor apraxia following cardiac surgery. Canadian Journal of Ophthalmology, 26(6), 316–320.
Zee, D. S., Yee, R. D., & Singer, H. S. (1977). Congenital ocular motor apraxia. Brain, 100(3), 581–599.
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Tilikete, C., Robert, M.P. (2019). Ocular Motor Apraxia. In: Shaikh, A., Ghasia, F. (eds) Advances in Translational Neuroscience of Eye Movement Disorders. Contemporary Clinical Neuroscience. Springer, Cham. https://doi.org/10.1007/978-3-030-31407-1_22
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