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Part of the book series: Contemporary Clinical Neuroscience ((CCNE))

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.

    CAS  PubMed  Google Scholar 

  • 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.

    CAS  PubMed  Google Scholar 

  • 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.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Benson, D. F., Davis, R. J., & Snyder, B. D. (1988). Posterior cortical atrophy. Archives of Neurology, 45(7), 789–793.

    CAS  PubMed  Google Scholar 

  • Biotti, D., & Pisella, L. (2012). Vighetto A. [Balint syndrome and spatial functions of the parietal lobe]. Revue Neurologique (Paris), 168(10), 741–753.

    CAS  Google Scholar 

  • 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.

    CAS  PubMed  Google Scholar 

  • 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.

    CAS  PubMed  Google Scholar 

  • 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.

    CAS  PubMed  PubMed Central  Google Scholar 

  • 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.

    PubMed  Google Scholar 

  • 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.

    PubMed  PubMed Central  Google Scholar 

  • 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.

    PubMed  Google Scholar 

  • 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.

    CAS  PubMed  Google Scholar 

  • Cogan, D. G. (1965). Ophthalmic manifestations of bilateral non-occipital cerebral lesions. The British Journal of Ophthalmology, 49, 281–297.

    CAS  PubMed  PubMed Central  Google Scholar 

  • 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.

    CAS  PubMed  Google Scholar 

  • 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.

    CAS  PubMed  Google Scholar 

  • 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.

    Google Scholar 

  • 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.

    CAS  PubMed  Google Scholar 

  • Dehaene, I., & Lammens, M. (1991). Paralysis of saccades and pursuit: Clinicopathologic study. Neurology, 41(3), 414–415.

    CAS  PubMed  Google Scholar 

  • 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.

    CAS  PubMed  Google Scholar 

  • 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.

    PubMed  Google Scholar 

  • Etcharry-Bouyx, F., Le Gall, D., Jarry, C., & Osiurak, F. (2017). Gestural apraxia. Revue Neurologique (Paris), 173(7–8), 430–439.

    CAS  Google Scholar 

  • 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.

    CAS  PubMed  Google Scholar 

  • Fogel, B. L., & Perlman, S. (2007). Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurology, 6(3), 245–257.

    CAS  PubMed  Google Scholar 

  • 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.

    PubMed  Google Scholar 

  • Gaymard, B. (2012). Cortical and sub-cortical control of saccades and clinical application. Revue Neurologique (Paris), 168, 734–740.

    CAS  Google Scholar 

  • 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.

    CAS  PubMed  PubMed Central  Google Scholar 

  • 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.

    CAS  PubMed  Google Scholar 

  • 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.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Hecaen, H., & De Ajuriaguerra, J. (1954). Balint’s syndrome (psychic paralysis of visual fixation) and its minor forms. Brain, 77(3), 373–400.

    CAS  PubMed  Google Scholar 

  • 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.

    CAS  PubMed  Google Scholar 

  • 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.

    CAS  PubMed  Google Scholar 

  • 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.

    PubMed  Google Scholar 

  • Kennard, C. (2011). Disorders of higher gaze control. Handbook of Clinical Neurology, 102, 379–402.

    PubMed  Google Scholar 

  • 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.

    PubMed  PubMed Central  Google Scholar 

  • 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.

    PubMed  Google Scholar 

  • 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.

    PubMed  Google Scholar 

  • 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.

    PubMed  Google Scholar 

  • Leigh, R. J., & Zee, D. S. (2015). The neurology of eye movements (4th ed.). Oxford: University Press.

    Google Scholar 

  • Lewis, R. F. (2001). Ocular motor apraxia and ataxia-telangiectasia. Archives of Neurology, 58(8), 1312.

    CAS  PubMed  Google Scholar 

  • Lewis, R. F., Lederman, H. M., & Crawford, T. O. (1999). Ocular motor abnormalities in ataxia telangiectasia. Annals of Neurology, 46(3), 287–295.

    CAS  PubMed  Google Scholar 

  • Lloyd-Smith Sequeira, A., Rizzo, J. R., & Rucker, J. C. (2017). Clinical approach to supranuclear brainstem saccadic gaze palsies. Frontiers in Neurology, 8, 429.

    PubMed  PubMed Central  Google Scholar 

  • 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.

    CAS  PubMed  Google Scholar 

  • 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.

    PubMed  PubMed Central  Google Scholar 

  • 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.

    CAS  PubMed  Google Scholar 

  • 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.

    PubMed  Google Scholar 

  • 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.

    PubMed  Google Scholar 

  • Monaco, F., Pirisi, A., Sechi, G. P., & Cossu, G. (1980). Acquired ocular-motor apraxia and right-sided cortical angioma. Cortex, 16(1), 159–167.

    CAS  PubMed  Google Scholar 

  • 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.

    CAS  PubMed  Google Scholar 

  • 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.

    CAS  PubMed  Google Scholar 

  • 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.

    CAS  PubMed  Google Scholar 

  • Nagappa, M., Bindu, P. S., Taly, A. B., & Sinha, S. (2015). Oculomotor apraxia in Gaucher disease. Pediatric Neurology, 52(4), 468–469.

    PubMed  Google Scholar 

  • 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.

    PubMed  Google Scholar 

  • 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.

    PubMed  Google Scholar 

  • 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.

    CAS  PubMed  Google Scholar 

  • 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.

    PubMed  Google Scholar 

  • 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.

    PubMed  Google Scholar 

  • 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.

    CAS  PubMed  Google Scholar 

  • Prasad, P., & Nair, S. (1994). Congenital ocular motor apraxia: Sporadic and familial. Support for natural resolution. Journal of Neuro-Ophthalmology, 14(2), 102–104.

    CAS  PubMed  Google Scholar 

  • 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.

    CAS  PubMed  Google Scholar 

  • 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.

    CAS  PubMed  Google Scholar 

  • Romani, M., Micalizzi, A., & Valente, E. M. (2013). Joubert syndrome: Congenital cerebellar ataxia with the molar tooth. Lancet Neurology, 12(9), 894–905.

    PubMed  Google Scholar 

  • Salman, M. S. (2015). Infantile-onset saccade initiation delay (congenital ocular motor apraxia). Current Neurology and Neuroscience Reports, 15(5), 24.

    PubMed  Google Scholar 

  • 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.

    PubMed  Google Scholar 

  • 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.

    PubMed  Google Scholar 

  • 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.

    PubMed  Google Scholar 

  • 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.

    CAS  PubMed  Google Scholar 

  • 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.

    CAS  PubMed  Google Scholar 

  • 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.

    PubMed  Google Scholar 

  • 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.

    CAS  PubMed  Google Scholar 

  • 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.

    PubMed  Google Scholar 

  • 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.

    CAS  Google Scholar 

  • 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.

    CAS  PubMed  Google Scholar 

  • Tranchant, C., Fleury, M., Moreira, M. C., Koenig, M., & Warter, J. M. (2003). Phenotypic variability of aprataxin gene mutations. Neurology, 60(5), 868–870.

    CAS  PubMed  Google Scholar 

  • Tusa, R. J., & Hove, M. T. (1999). Ocular and oculomotor signs in Joubert syndrome. Journal of Child Neurology, 14(10), 621–627.

    CAS  PubMed  Google Scholar 

  • 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.

    Google Scholar 

  • 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.

    PubMed  PubMed Central  Google Scholar 

  • 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.

    PubMed  PubMed Central  Google Scholar 

  • Zackon, D. H., & Noel, L. P. (1991). Ocular motor apraxia following cardiac surgery. Canadian Journal of Ophthalmology, 26(6), 316–320.

    CAS  PubMed  Google Scholar 

  • Zee, D. S., Yee, R. D., & Singer, H. S. (1977). Congenital ocular motor apraxia. Brain, 100(3), 581–599.

    CAS  PubMed  Google Scholar 

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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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