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Eyelid Dysfunction in Neurodegenerative, Neurogenetic, and Neurometabolic Disease

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Advances in Translational Neuroscience of Eye Movement Disorders

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

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Abstract

Eyelid movement is neuroanatomically linked to eye movement, and thus eyelid abnormalities frequently accompany and sometimes precede or overshadow eye movement abnormalities in neurodegenerative disease. In this chapter, we summarize the various eyelid abnormalities that can occur in inherited and acquired neurodegenerative disorders in the context of the neuroanatomic pathways that are affected. The epidemiology and clinical approach to diagnosis and treatment of ptosis, eyelid retraction, abnormal spontaneous and reflexive blinking, blepharospasm, and eyelid apraxia will also be reviewed.

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References

  • Abbruzzese, G., Berardelli, A., Girlanda, P., Marchese, R., Martino, D., Morgante, F., Avanzino, L., Colosimo, C., & Defazio, G. (2008). Long-term assessment of the risk of spread in primary late-onset focal dystonia. JNNP, 79, 392–396.

    CAS  Google Scholar 

  • Agostino, R., Bologna, M., Dinapoli, L., Gregori, B., Fabbrini, G., Accornero, N., & Berardelli, A. (2008). Voluntary spontaneous, and reflex blinking in Parkinson’s disease. Movement Disorders, 23(5), 669–675.

    Article  PubMed  Google Scholar 

  • Allen, R. C. (2013). Genetic diseases affecting the eyelids: What should a clinician know? Current Opinion in Ophthalmology, 24, 463–477.

    Article  PubMed  Google Scholar 

  • Amboni, M., Pellecchia, M. T., Cozzolino, A., Picillo, M., Vitale, C., Barone, P., Varrone, A., Garavaglia, B., Gambelli, S., & Federico, A. (2009). Cerebellar and pyramidal dysfunctions, palpebral ptosis and weakness as the presenting symptoms of PARK-2. Movement Disorders, 24(2), 303–305.

    Article  PubMed  Google Scholar 

  • Aramideh, M., & Ongerboer de Visser, B. W. (2002). Brainstem reflexes: Electrodiagnostic techniques, physiology, normative data, and clinical applications. Muscle & Nerve, 26(1), 14–30.

    Article  CAS  Google Scholar 

  • Aramideh, M., Eekhof, J. L., Bour, L. J., Koelman, J. H., & Speelman, J. D. (1995). Ongerboer de Visser BW. Electromyography and recovery of the blink reflex in involuntary eyelid closure: A comparative study. JNNP, 58(6), 692–698.

    CAS  Google Scholar 

  • Aramideh, M., Kwa, I. H., Brans, J. W., Speelman, J. D., & Verbeeten, B., Jr. (1997). Apraxia of eyelid closure accompanied by denial of eye opening. Movement Disorders, 12(6), 1105–1108.

    Article  CAS  PubMed  Google Scholar 

  • Baizabal-Carvallo, J. F., & Jankovic, J. (2016). Movement disorders induced by deep brain stimulation. Parkinsonism & Related Disorders, 25, 1–9.

    Article  Google Scholar 

  • Baker, R. S., Andersen, A. H., Morecraft, R. J., & Smith, C. D. (2003). A functional magnetic resonance imaging study in patients with benign essential blepharospasm. Journal of Neuro-Ophthalmology, 23(1), 11–15.

    Article  PubMed  Google Scholar 

  • Barclay, C. L., & Lang, A. E. (1997). Dystonia in progressive supranuclear palsy. JNNP, 62(4), 352–356.

    CAS  Google Scholar 

  • Basso, M. A., Powers, A. S., & Evinger, C. (1996). An explanation for reflex blink hyperexcitability in Parkinson’s disease. I. Superior colliculus. The Journal of Neuroscience, 16(22), 7308–7317.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Becker, W., & Fuchs, A. F. (1988). Lid-eye coordination during vertical gaze changes in man and monkey. Journal of Neurophysiology, 60, 1227–1252.

    Article  CAS  PubMed  Google Scholar 

  • Bentivoglio, A. R., Daniele, A., Albanese, A., Tonali, P. A., & Fasano, A. (2006). Analysis of blink rate in patients with blepharospasm. Movement Disorders, 21(8), 1225–1229.

    Article  PubMed  Google Scholar 

  • Biousse, V., Skibell, B. C., Watts, R. L., Loupe, D. N., Drews-Botsch, C., & Newman, N. J. (2004). Ophthalmologic features of Parkinson’s disease. Neurology, 62(2), 177–180.

    Article  CAS  PubMed  Google Scholar 

  • Blackburn, M. K., Lamb, R. D., Digre, K. B., Smith, A. G., Warner, J. E., McClane, R. W., Nandedkar, S. D., Langeberg, W. J., Holubkov, R., & Katz, B. J. (2009). FL-41 tint improves blink frequency, light sensitivity, and functional limitations in patients with benign essential blepharospasm. Ophthalmology, 116(5), 997–1001.

    Article  PubMed  Google Scholar 

  • Bologna, M., Fasano, A., Modugno, N., Fabbrini, G., & Berardelli, A. (2012). Effects of subthalamic nucleus deep brain stimulation and L-DOPA on blinking in Parkinson’s disease. Experimental Neurology, 235(1), 265–272.

    Article  CAS  PubMed  Google Scholar 

  • Bonanni, L., Anzellotti, F., Varanese, S., Thomas, A., Manzoli, L., & Onofrj, M. (2007). Delayed blink reflex in dementia with Lewy bodies. JNNP, 78(10), 1137–1139.

    Google Scholar 

  • Bonelli, R. M., & Niederwieser, G. (2002). Apraxia of eyelid closure in Huntington’s disease. Journal of Neural Transmission, 109(2), 197–201.

    Article  CAS  PubMed  Google Scholar 

  • Brodsky, H., Dat Vuong, K., Thomas, M., & Jankovic, J. (2004). Glabellar and palmomental reflexes in parkinsonian disorders. Neurology, 63(6), 1096–1098.

    Article  PubMed  Google Scholar 

  • Cardoso, F., de Oliveira, J. T., Puccioni-Sohler, M., Fernandes, A. R., de Mattos, J. P., & Lopes-Cendes, I. (2000). Eyelid dystonia in Machado-Joseph disease. Movement Disorders, 15(5), 1028–1030.

    Article  CAS  PubMed  Google Scholar 

  • Clark, B. J., Kemp, E. G., Behan, W. M. H., et al. (1995). Abnormal extracellular material in the levator palpebrae superioris complex in congenital ptosis. Archives of Ophthalmology, 113, 1414–1419.

    Article  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.

    Article  CAS  PubMed  Google Scholar 

  • Cohen, L. G., Ludlow, C. L., Warden, M., Estegui, M., Agostino, R., Sedory, S. E., Holloway, E., Dambrosia, J., & Hallett, M. (1989). Blink reflex excitability recovery curves in patients with spasmodic dysphonia. Neurology, 39(4), 572–577.

    Article  CAS  PubMed  Google Scholar 

  • Conte, A., Berardelli, I., Ferrazzano, G., Pasquini, M., Berardelli, A., & Fabbrini, G. (2016). Non-motor symptoms in patients with adult-onset focal dystonia: Sensory and psychiatric disturbances. Parkinsonism & Related Disorders, 22, S111–S114.

    Article  Google Scholar 

  • Costa, J., Valls-Sole, J., Valldeoriola, F., Pech, C., & Rumia, J. (2006). Single subthalamic nucleus deep brain stimuli inhibit the blink reflex in Parkinson’s disease patients. Brain, 129, 1758–1767.

    Article  PubMed  Google Scholar 

  • De Groot, V., De Wilde, F., Smet, L., & Tassignon, M. J. (2000). Frontalis suspension combined with blepharoplasty as an effective treatment for blepharospasm associated with apraxia of eyelid opening. Ophthalmic Plastic and Reconstructive Surgery, 16(1), 34–38.

    Article  PubMed  Google Scholar 

  • De Tommaso, M., Sciruicchio, V., Spinelli, A., Specchio, N., Difruscolo, O., Puca, F., & Specchio, L. M. (2001). Features of the blink reflex in individuals at risk for Huntington’s disease. Muscle & Nerve, 24(11), 1520–1525.

    Article  Google Scholar 

  • Defazio, G., & Livrea, P. (2002). Epidemiology of primary blepharosmasm. Movement Disorders, 17(1), 7–12.

    Article  PubMed  Google Scholar 

  • Defazio, G., Livrea, P., Lamberti, P., De Salvia, R., Laddomada, G., Giorelli, M., & Ferrari, E. (1988). Isolated so-called apraxia of eyelid opening: Report of 10 cases and a review of the literature. European Neurology, 39, 204–210.

    Article  Google Scholar 

  • Defazio, G., Livrea, P., De Salvia, R., Manobianca, G., Coviello, V., Anaclerio, D., Guerra, V., Martino, D., Valluzzi, F., Liguori, R., & Logroscino, G. (2001). Prevalence of primary blepharospasm in a community of Puglia region, Southern Italy. Neurology, 56(11), 1579–1581.

    Article  CAS  PubMed  Google Scholar 

  • Defazio, G., Matarin, M., Peckham, E. L., Martino, D., Valente, E. M., Singleton, A., Crawley, A., Aniello, M. S., Brancati, F., Abbruzzese, G., Girlanda, P., Livrea, P., Hallett, M., & Berardelli, A. (2009). The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. Movement Disorders, 24(4), 613–616.

    Article  PubMed  PubMed Central  Google Scholar 

  • Dewey, R. B., Jr., & Maraganore, D. M. (1994). Isolated eyelid-opening apraxia: Report of a new levodopa-responsive syndrome. Neurology, 44(9), 1752–1754.

    Article  PubMed  Google Scholar 

  • Dressler, D., Karapantzou, C., Rohrbach, S., Schneider, S., & Laskawi, R. (2017). Frontalis suspension surgery to treat patients with blepharospasm and eyelid opening apraxia: Long term results. Journal of Neural Transmission, 124(2), 253–257.

    Article  PubMed  Google Scholar 

  • Eftekhari, K., Choe, C. H., Vagefi, M. R., Gausas, R. E., & Eckstein, L. A. (2015). Oral methylphenidate for the treatment of refractory facial dystonias. Ophthalmic Plastic and Reconstructive Surgery, 31(3), e65–e66.

    Article  PubMed  Google Scholar 

  • Egan, R. A., Weleber, R. G., Hogarth, P., Gregory, A., Coryell, J., Westaway, S. K., Gitschier, J., Das, S., & Hayflick, S. J. (2005). Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz disease). American Journal of Ophthalmology, 140(2), 267–274.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Engel, A. G., Shen, X. M., Selcen, D., & Sine, S. M. (2015). Congenital myasthenic syndromes: Pathogenesis, diagnosis, and treatment. Lancet Neurology, 14(4), 420–434.

    Article  PubMed  Google Scholar 

  • Esposito, M., Fasano, A., Crisci, C., Dubbioso, R., Iodice, R., & Santoro, L. (2014). The combined treatment with orbital and pretarsal bnotulinum toxin injections in the management of poorly responsive blepharospasm. Neurological Sciences, 35(3), 397–400.

    Article  PubMed  Google Scholar 

  • Esteban, A., & Gimenez-Roldan, S. (1975). Blink reflex in Huntington’s chorea and Parkinson’s disease. Acta Neurologica Scandinavica, 52(2), 145–157.

    Article  CAS  PubMed  Google Scholar 

  • Esteban, A., & Salinero, E. (1979). Reciprocal reflex activity in ocular muscles: Implications in spontaneous blinking and Bell’s phenomenon. European Neurology, 18, 157–165.

    Article  CAS  PubMed  Google Scholar 

  • Evinger, C., Shaw, M. D., Peck, C. K., Manning, K. A., & Baker, R. (1984). Blinking and associated eye movements in humans, guinea pigs, and rabbits. Journal of Neurophysiology, 52(2), 323–339.

    Article  CAS  PubMed  Google Scholar 

  • Fekete, R., & Jankovic, J. (2014). Upper facial chorea in Huntington disease. Journal of Clinical Movement Disorders, 1, 7.

    Article  PubMed  PubMed Central  Google Scholar 

  • Foote, K. D., Sanchez, J. C., & Okun, M. S. (2005). Staged deep brain stimulation for refractory craniofacial dystonia with blepharospasm: Case report and physiology. Neurosurgery, 56, E415.

    Article  PubMed  Google Scholar 

  • Friedman, D. I., Jankovic, J., & McCrary, J. A. (1992). Neuro-ophthalmic findings in progressive supranuclear palsy. Journal of Clinical Neuro-ophthalmology, 12(2), 104–109.

    PubMed  Google Scholar 

  • Fuchs, A. F., Becker, W., Ling, L., Langer, T. P., & Kaneko, C. R. (1992). Discharge patterns of levator palpebrae superioris motoneurons during vertical lid and eye movements in the monkey. Journal of Neurophysiology, 68(1), 233–243.

    Article  CAS  PubMed  Google Scholar 

  • Fukishima, T., Hasegawa, A., Matsubara, N., & Kolke, R. (2007). An apraxia of eyelid closure in association with frontal lobe atrophy in a patient with amyotrophic lateral sclerosis. Rinshō Shinkeigaku, 47(5), 226–230.

    Google Scholar 

  • Fuss, G., Spiegel, J., Magnus, T., Moringlane, J. R., Becker, G., & Dillmann, U. (2004). Improvement of apraxia of lid opening by STN-stimulation in a 70 year-old with Parkinson’s disease: A case report. Minimally Invasive Neurosurgery, 47(1), 58–60.

    Article  CAS  PubMed  Google Scholar 

  • Georgescu, D., Vagefi, M. R., McMullan, T. F., McCann, J. D., & Anderson, R. L. (2008). Upper eyelid myectomy in blepharospasm with associated apraxia of lid opening. American Journal of Ophthalmology, 145(3), 541–547.

    Article  PubMed  Google Scholar 

  • Gnadt, J. W., Lu, S. M., Breznen, B., Basso, M. A., Henriquez, V. M., & Evinger, C. (1997). Influence of the superior colliculus on the primate blink reflex. Experimental Brain Research, 116, 389–398.

    Article  CAS  PubMed  Google Scholar 

  • Golbe, L. I., Davis, P. H., & Lepore, F. E. (1989). Eyelid movement abnormalities in progressive supranuclear palsy. Movement Disorders, 4(4), 297–302.

    Article  CAS  PubMed  Google Scholar 

  • Golding, C. V., Danchaivijitr, C., Hodgson, T. L., Tabrizi, S. J., & Kennard, C. (2006). Identification of an oculomotor biomarker of preclinical Huntington disease. Neurology, 67, 485–487.

    Article  CAS  PubMed  Google Scholar 

  • Goldstein, J. E., & Cogan, D. G. (1965). Apraxia of lid opening. Archives of Ophthalmology, 73, 155–159.

    Article  CAS  PubMed  Google Scholar 

  • Gómez-Wong, E., Martí, M. J., Cossu, G., Fabregat, N., Tolosa, E. S., & Valls-Solé, J. (1998). The ‘geste antagonistique’ induces transient modulation of the blink reflex in human patients with blepharospasm. Neuroscience Letters, 251(2), 125–128.

    Article  PubMed  Google Scholar 

  • Gorman, G. S., Pfeffer, G., Griffin, H., Blakely, E. L., Kurzawa-Akanbi, M., Gabriel, J., Sitarz, K., Roberts, M., Schoser, B., Pyle, A., Schaefer, A. M., McFarland, R., Turnbull, D. M., Horvath, R., Chinnery, P. F., & Taylor, R. W. (2015). Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28. JAMA Neurology, 72(1), 106–111.

    Article  PubMed  Google Scholar 

  • Goto, S., Kihara, K., Hamasaki, T., Nishikawa, S., Hirata, Y., & Ushio, Y. (2000). Apraxia of lid opening is alleviated by pallidal stimulation in a patient with Parkinson’s disease. European Journal of Neurology, 7(3), 337–340.

    Article  CAS  PubMed  Google Scholar 

  • Grandas, F., Traba, A., Alonso, F., & Esteban, A. (1998). Blink reflex recovery cycle in patients with blepharospasm unilaterally treated with botulinum toxin. Clinical Neuropharmacology, 21(5), 307–311.

    CAS  PubMed  Google Scholar 

  • Hallett, M., Evinger, C., Jankovic, J., & Stacy, M. (2008). Update on blepharospasm: Report from the BEBRF international workshop. Neurology, 71, 1275–1282.

    Article  PubMed  PubMed Central  Google Scholar 

  • Heidary, G., Engle, E. C., & Hunter, D. G. (2008). Congenital fibrosis of the extraocular muscles. Seminars in Ophthalmology, 23(1), 3–8.

    Article  PubMed  Google Scholar 

  • Hirayama, M., Kumano, T., Aita, T., Nakagawa, H., & Kuriyama, M. (2000). Improvement of apraxia of eyelid opening by wearing goggles. Lancet, 356(9239), 1413.

    Article  CAS  PubMed  Google Scholar 

  • Horie, C., Suzuki, Y., Kiyosawa, M., Mochizuki, M., Wakakura, M., Oda, K., Ishiwata, K., & Ishii, K. (2009). Decreased dopamine D receptor binding in essential blepharospasm. Acta Neurologica Scandinavica, 119(1), 49–54.

    Article  CAS  PubMed  Google Scholar 

  • Horn, A. K., & Buttner-Ennever, J. A. (2008). Brainstem circuits controlling lid-eye coordination in monkeys. Progress in Brain Research, 171, 87–95.

    Article  PubMed  Google Scholar 

  • Horn, A. K., Buttner-Ennever, J. A., Gayde, M., & Messoudi, A. (2000). Neuroanatomical identification of mesencephalic premotor neurons coordinating eyelid with upgaze in the monkey and man. The Journal of Comparative Neurology, 420, 19–34.

    Article  CAS  PubMed  Google Scholar 

  • Howard, R. S. (1986). A case of convergence evoked eyelid nystagmus. Journal of Clinical Neuroophthalogy, 6(3), 169–171.

    CAS  Google Scholar 

  • https://clinicaltrials.gov/ct2/show/NCT02894658?term=lipiflow&rank=4

  • Iriarte, L. M., Chacon, J., Madrazo, J., Chaparro, P., & Vadillo, J. (1988). Blink reflex in 57 parkinsonian patients with correlation between the clinical and electrophysiological parameters. Functional Neurology, 3(2), 147–156.

    CAS  PubMed  Google Scholar 

  • Iriarte, L. M., Chacon, J., Madrazo, J., Chaparro, P., & Vadillo, J. (1989). Blink reflex in dyskinetic and nondyskinetic patients with Parkinson’s disease. European Neurology, 29(2), 67–70.

    Article  CAS  PubMed  Google Scholar 

  • Kaminer, J., Thakur, P., & Evinger, C. (2015). Effects of subthalamic deep brain stimulation on blink abnormalities of 6-OHDA lesioned rats. Journal of Neurophysiology, 1113(9), 3038–3046.

    Article  Google Scholar 

  • Kanazawa, M., Thimohata, T., Sato, M., Onodera, O., Tanaka, K., & Nishizawa, M. (2007). Botulinum toxin A injections improve apraxia of eyelid opening without overt blepharospasm associated with neurodegenerative diseases. Movement Disorders, 22(4), 597–598.

    Article  PubMed  Google Scholar 

  • Karson, C. N. (1983). Spontaneous eye-blink rates and dopaminergic systems. Brain, 106, 643–653.

    Article  PubMed  Google Scholar 

  • Karson, C. N., Burns, R. S., LeWitt, P. A., Foster, N. L., & Newman, R. P. (1984). Blink rates and disorders of movement. Neurology, 34(5), 677–678.

    Article  CAS  PubMed  Google Scholar 

  • Katz, B. J., & Digre, K. B. (2016). Diagnosis, pathophysiology, and treatment of photophobia. Survey of Ophthalmology, 61(4), 466–477.

    Article  PubMed  Google Scholar 

  • Keane, J. R. (1990). The pretectal syndrome: 206 patients. Neurology, 40, 684–690.

    Article  CAS  PubMed  Google Scholar 

  • Kersten, R. C., de Conciliis, C., & Kulwin, D. R. (1995). Acquired ptosis in the young and middle-aged adult population. Ophthalmology, 102, 924–928.

    Article  CAS  PubMed  Google Scholar 

  • Khooshnoodi, M. A., Factor, S. A., & Jinnah, H. A. (2013). Secondary blepharospasm associated with structural lesions of the brain. Journal of the Neurological Sciences, 331(102), 98–101.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Kiferle, L., Orsucci, D., Mancuso, M., Lo Gerfo, A., Petrozzi, L., Siciliano, G., Ceravolo, R., & Bonnucelli, U. (2013). Twinkle mutation in an Italian family with external progressive ophthalmoplegia and parkinsonism: A case report and an update on the state of the art. Neuroscience Letters, 556, 1–4.

    Article  CAS  PubMed  Google Scholar 

  • Kimber, T. E., & Thompson, P. D. (2000). Increased blink rate in advanced Parkinson’s disease: A form of ‘off’-period dystonia? Movement Disorders, 15(5), 982–985.

    Article  CAS  PubMed  Google Scholar 

  • Krack, P., & Marion, M. H. (1994). “Apraxia of lid opening,” a focal eyelid dystonia: Clinical study of 32 patients. Movement Disorders, 9, 610.

    Article  CAS  PubMed  Google Scholar 

  • Kranz, G., SHamim, E. A., Lin, P. T., Kranz, G. S., & Hallett, M. (2010). Transcranial magnetic brain stimulation modulates blepharospasm: A randomized controlled study. Neurology, 75(16), 1465–1471.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Kranz, G., Shamim, E. A., Lin, P. T., Kranz, G. S., & Hallet, M. (2013). Long term depression-like plasticity of the blink reflex for the treatment of blepharospasm. Movement Disorders, 28(4), 498–503.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Kuniyoshi, S., Riley, D. E., Zee, D. S., Reich, S. G., Whitney, C., & Leigh, R. J. (2002). Distinguishing progressive supranuclear palsy from other forms of Parkinson’s disease: Evaluation of new signs. Annals of the New York Academy of Sciences, 956, 484–486.

    Article  PubMed  Google Scholar 

  • Lamberti, P., De Mari, M., Zenzola, A., Aniello, M. S., & Defazio, G. (2002). Frequency of apraxia of eyelid opening in the general population and in patients with extrapyramidal disorders. Neurological Sciences, 23, S81–S82.

    Article  PubMed  Google Scholar 

  • Lasker, A. G., & Zee, D. S. (1997). Ocular motor abnormalities in Huntington’s disease. Vision Research, 37, 3639–3645.

    Article  CAS  PubMed  Google Scholar 

  • Lee, K. C., Finley, R., & Miller, B. (2004). Apraxia of lid opening: dose-dependent response to carbidopa-levodopa. Pharmacotherapy, 24(3), 401–403.

    Article  PubMed  Google Scholar 

  • Leigh, R. J., Newman, S. A., Folstein, S. E., Lasker, A. G., & Jensen, B. A. (1983). Abnormal ocular motor control in Huntington’s disease. Neurology, 33(10), 1268–1275.

    Article  CAS  PubMed  Google Scholar 

  • Liu, G. T., Volpe, N. J., & Galetta, S. L. (2010). Neuro-ophthalmology: Diagnosis and management (2nd ed.). Philadelphia: Elsevier.

    Google Scholar 

  • Manning, K. A., & Evinger, C. (1986). Different forms of blinks and their two-stage control. Experimental Brain Research, 64(3), 579–588.

    Article  CAS  PubMed  Google Scholar 

  • Martino, D., Defazio, G., Alessio, G., et al. (2005). Relationship between eye symptoms and blepharospasm: A multicenter case-control study. Movement Disorders, 20, 1564–1570.

    Article  PubMed  Google Scholar 

  • Martino, D., Liuzzi, D., Macerollo, A., Aniello, M. S., Livrea, P., & Defazio, G. (2010). The phenomenology of the geste antagoniste in primary blepharospasm and cervical dystonia. Movement Disorders, 25(4), 407–412.

    Article  PubMed  Google Scholar 

  • Martino, D., Berardelli, A., Abbruzzese, G., Bentivoglio, A. R., Esposito, M., Fabbrini, G., Guidubaldi, A., Girlanda, P., Liguori, R., Marinelli, L., Morgante, F., Santoro, L., & Defazio, G. (2012). Age at onset and symptom spread in primary focal dystonia. Movement Disorders, 27(11), 1447–1450.

    Article  PubMed  Google Scholar 

  • Matsumoto, H., Noro, H., Kaneshige, Y., Chiba, S., Miyano, N., Motoi, Y., & Yanada, Y. (1992). A correlation study between blink reflex habituation and clinical state in patients with Parkinson’s disease. Journal of the Neurological Sciences, 107(2), 155–159.

    Article  CAS  PubMed  Google Scholar 

  • Matthews, E., Fialho, D., Tan, S. V., Venance, S. L., Cannon, S. C., Sternberg, D., Fontaine, B., Amato, A. A., Barohn, R. J., Griggs, R. C., Hanna, M. G., & The CINCH investigators. (2010). The non-dystrophic myotonias: Molecular pathogenesis, diagnosis, and treatment. Brain, 133(1), 9–22.

    Article  CAS  PubMed  Google Scholar 

  • McClelland, C., Manousakis, G., & Lee, M. S. (2016). Progressive external ophthalmoplegia. Current Neurology and Neuroscience Reports, 16(6), 53.

    Article  PubMed  Google Scholar 

  • Mendes, S., Beselga, D., Campos, S., Neves, A., Campos, J., Carvalho, S., Silvo, E., & Castro Sousa, J. P. (2015). Possible rare congenital dysinnervation disorder: Congenital ptosis associated with adduction. Strabismus, 23(1), 33–35.

    Article  PubMed  Google Scholar 

  • Milivojevic, I., Bakran, Z., Adamec, I., Miletic Grskovic, S., & Habek, M. (2013). Eyelid nystagmus and primary position upbeat nystagmus. Neurological Sciences, 34(8), 1463–1464.

    Article  PubMed  Google Scholar 

  • Milone, M., & Wong, L. J. (2013). Diagnosis of mitochondrial myopathies. Molecular Genetics and Metabolism, 110(1–2), 35–41.

    Article  CAS  PubMed  Google Scholar 

  • Molloy, A., Williams, L., Kimmich, O., Butler, J. S., Beiser, I., McGovern, E., O’Riordan, S., Reilly, R. B., Walsh, C., & Hutchinson, M. (2016). Sun exposure is an environmental risk factor for the development of blepharospasm. JNNP, 87(4), 420–424.

    Google Scholar 

  • Moro, A., Munhoz, R. P., Arruda, W. O., Raskin, S., & Teive, H. A. (2013). Clinical relevance of “bulging eyes” for the differential diagnosis of spinocerebellar ataxias. Arquivos de Neuro-Psiquiatria, 71(7), 428–430.

    Article  PubMed  Google Scholar 

  • Nath, U., Ben-Shiomo, Y., Thomson, R. G., Lees, A. J., & Burn, D. J. (2003). Clinical features oand natural history of progressive supranuclear palsy: A clinical cohort study. Neurology, 60(6), 910–916.

    Article  CAS  PubMed  Google Scholar 

  • Ng, J., Papandreou, A., Jeales, S. J., & Kurian, M. A. (2015). Monoamine neurotransmitter disorders – clinical advances and future directions. Nature Reviews. Neurology, 11, 567–584.

    Article  CAS  PubMed  Google Scholar 

  • Nowacka, B., Lubinski, W., Honczarenko, K., Potemkowski, A., & Safranow, K. (2014). Ophthalmological features of Parkinson’s disease. Ophthalmological features of Parkinson’s disease. Medical Science Monitor, 20, 2243–2249.

    Article  PubMed  PubMed Central  Google Scholar 

  • Onofrj, M., Monaco, D., Bonani, L., Onofrj, V., Bifolchetti, S., Manzoli, L., & Thomas, A. (2011). Eyelid retraction in dementia with Lewy bodies and Parkinson’s disease. Journal of Neurology, 258(8), 1542–1544.

    Article  PubMed  Google Scholar 

  • Ouchi, H., Toyoshima, Y., Tada, M., Oyake, M., Aida, I., Tomita, I., Satoh, A., Tsujihata, M., Takahashi, H., Nishizawa, M., & Shimohata, T. (2014). Pathology and sensitivity of current clinical criteria in corticobasal syndrome. Movement Disorders, 29(2), 238–244.

    Article  PubMed  Google Scholar 

  • Pariseau, B., Worley, M. W., & Anderson, R. L. (2013). Myectomy for blepharospasm. Current Opinion in Ophthalmology, 24(5), 488–493.

    PubMed  Google Scholar 

  • Paulson, H. L. (2009). The spinocerebellar ataxias. Journal of Neuro-Ophthalmology, 29(3), 227–237.

    Article  PubMed  PubMed Central  Google Scholar 

  • Pavone, P., Barbagallo, M., Parano, E., et al. (2005). Clinical heterogeneity in familial congenital ptosis: Analysis of fourteen cases in one family over five generations. Pediatric Neurology, 33, 251–254.

    Article  PubMed  Google Scholar 

  • Piccione, F., Mancini, E., Tonin, P., & Bizzarini, M. (1997). Botulinum toxin treatment of apraxia of eyelid opening in progressive supranuclear palsy: Report of two cases. Archives of Physical Medicine and Rehabilitation, 78(5), 525–529.

    Article  CAS  PubMed  Google Scholar 

  • Porter, J. D., Burns, L. A., & May, P. J. (1989). Morphological substrate for eyelid movements: Innervation and structure of primary levator palpebrae superioris and orbicularis oculi muscles. The Journal of Comparative Neurology, 287(1), 64–81.

    Article  CAS  PubMed  Google Scholar 

  • Poulton, J., Harley, H. G., Dasmahapatra, J., Brown, G. K., Potter, C. G., & Sykes, B. (1995). Mitochondrial DNA does not appear to influence the congenital onset type of myotonic dystrophy. Journal of Medical Genetics, 32(9), 732–735.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Quartarone, A., Sant’Angelo, A., Battaglia, F., Bagnato, S., Rizzo, V., Morgante, F., Rothwell, J. C., Siebner, H. R., & Girlanda, P. (2006). Enhanced long-term potentiation-like plasticity of the trigeminal blink reflex circuit in blepharospasm. The Journal of Neuroscience, 26(2), 716–721.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Ramasamy, B., Rowe, F., Freeman, G., Owen, M., & Noonan, C. (2007). Modified Lundie loops improve apraxia of eyelid opening. Journal of Neuro-Ophthalmology, 27(1), 32–35.

    Article  PubMed  Google Scholar 

  • Rana, A. Q., Kabir, A., Dogu, O., Patel, A., & Khondker, S. (2012). Prevalence of blepharospasm and apraxia of eyelid opening in patients with parkinsonism, cervical dystonia, and essential tremor. European Neurology, 68(5), 318–321.

    Article  PubMed  Google Scholar 

  • Robinson, D. A. (1970). Oculomotor unit behavior in the monkey. Journal of Neurophysiology, 33(3), 393–403.

    Article  CAS  PubMed  Google Scholar 

  • Rottach, K. G., Das, V. E., Wohlgemuth, W., Zivotofsky, A. Z., & Leigh, R. J. (1998). Properties of horizontal saccades accompanied by blinks. Journal of Neurophysiology, 79(6), 2895–2902.

    Article  CAS  PubMed  Google Scholar 

  • Rucker, J. C. (2011). Normal and abnormal lid function. Handbook of Clinical Neurology, 102(3), 403–424.

    Article  PubMed  Google Scholar 

  • Safran, A. B., Berney, J., & Safran, E. (1982). Convergence-evoked eyelid nystagmus. AJO, 93(1), 48–51.

    CAS  Google Scholar 

  • Sanders, M. D., Hoyt, W. F., & Daroff, R. B. (1968). Lid nystagmus evoked by ocular convergence: An ocular electromyographic study. JNNP, 31(4), 368–371.

    CAS  Google Scholar 

  • Schmidtke, N., & Buttner-Ennever, J. A. (1992). Nervous control of eyelid function: A review of clinical, experimental, and pathological data. Brain, 115, 227–247.

    Article  PubMed  Google Scholar 

  • Schultz, K. P., Williams, C. R., & Busettini, C. (2010). Macaque pontine omnipause neurons play no direct role in the generation of eye blinks. Journal of Neurophysiology, 103(4), 2255–2274.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Schwingenschuh, P., Katschnig, P., Edwards, M. J., Teo, J. T., Korlipara, L. V., Rothwell, J. C., & Bhatia, K. P. (2011). The blink reflex recovery cycle differs between essential and presumed psychogenic blepharospasm. Neurology, 76(7), 610–614.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Sforza, C., Rango, M., Galante, D., Bresolin, N., & Ferrario, V. F. (2008). Spontaneous blinking in healthy persons: An optoelectric study of eyelid motion. Ophthalmic & Physiological Optics, 28(4), 345–353.

    Article  Google Scholar 

  • Skarf, B. (2004). Normal and abnormal eyelid function. In N. R. Miller et al. (Eds.), Walsh & Hoyt’s clinical neuro-ophthalmology (pp. 1177–1229). Philadelphia: Lippincott, Williams, & Wilkins.

    Google Scholar 

  • Smith, D., Ishikawa, T., Dhawan, V., Winterkorn, J. S., & Eidelberg, D. (1995). Lid-opening apraxia is associated with medial frontal hypometabolism. Movement Disorders, 10(3), 341–344.

    Article  CAS  PubMed  Google Scholar 

  • SooHoo, J. R., Davies, B. W., Allard, F. D., & Durairaj, V. D. (2014). Congenital ptosis. Survey of Ophthalmology, 59, 483–492.

    Article  PubMed  Google Scholar 

  • Steeves, T. D., Day, L., Dykeman, J., Jette, N., & Pringsheim, T. (2012). The prevalence of primary dystonia: A systematic review and meta-analysis. Movement Disorders, 27(14), 1789–1796.

    Article  PubMed  Google Scholar 

  • Surwit, R. S., & Rotberg, M. (1984). Biofeedback therapy of essential blepharospasm. American Journal of Ophthalmology, 98(1), 28–31.

    Article  CAS  PubMed  Google Scholar 

  • Suzuki, Y., Kiyosawa, M., Ohno, N., Michizuki, M., Inaba, A., Mizusawa, H., Ishii, K., & Senda, M. (2003). Gluocse hypometablism in medial frontal cortex of patients with apraxia of lid opening. Graefe’s Archive for Clinical and Experimental Ophthalmology, 241(7), 529–534.

    Article  CAS  PubMed  Google Scholar 

  • Svetel, M., Pekmezovic, T., Tomic, A., Kresojevic, N., & Kostic, V. S. (2015). The spread of primary late-onset focal dystonia in a long-term follow up study. Clinical Neurology and Neurosurgery, 132, 41–43.

    Article  PubMed  Google Scholar 

  • Taylor, R. W., & Turnbull, D. M. (2005). Mitochondrial DNA mutations in human disease. Nature Reviews. Genetics, 6(5), 389–402.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Taylor, J. R., Elsworth, J. D., Lawrence, M. S., Sladek, J. R., Jr., Roth, R. H., & Redmond, D. E., Jr. (1999). Spontaneous blink rates correlate with dopamine levels in the caudate nucleus of MPTP-treated monkeys. Experimental Neurology, 158(1), 214–220.

    Article  CAS  PubMed  Google Scholar 

  • Tharp, J. A., Wendelken, C., Mathews, C. A., Marco, E. J., Schreier, H., & Bunge, S. A. (2015). Tourette syndrome: Complementary insights from measures of cognitive control, eyeblink rate, and pupil diameter. Frontiers in Psychiatry, 6, 95.

    Article  PubMed  PubMed Central  Google Scholar 

  • Tisch, S., Limousin, P., Rothwell, J. C., Asselman, P., Quinn, N., Jahanshahi, M., Bhatia, K. P., & Hariz, M. (2006). Changes in blink reflex excitability after globus pallidus internus stimulation for dystonia. Movement Disorders, 21(10), 1650–1655.

    Article  PubMed  Google Scholar 

  • Tokisato, K., Fukunaga, K., Tokunaga, M., Watanabe, S., Nakanishi, R., & Yamanaga, H. (2015). Aripiprazole can improve apraxia of eyelid opening in Parkinson’s disease. Internal Medicine, 54(23), 3061–3064.

    Article  CAS  PubMed  Google Scholar 

  • Tolosa, E., Montserrat, L., & Bayes, A. (1988). Blink reflex studies in patients with focal dystonias. Advances in Neurology, 50, 517–524.

    CAS  PubMed  Google Scholar 

  • Tommasi, G., Krack, P., Fraix, V., & Pollak, P. (2012). Effects of varying subthalamic nucleus stimulation on apraxia of lid opening in Parkinson’s disease. Journal of Neurology, 259(1944), 2592.

    Google Scholar 

  • Tozlovanu, V., Forget, R., Iancu, A., & Boghen, D. (2001). Prolonged orbicularis oculi activity: A major factor in apraxia of lid opening. Neurology, 57(6), 1013–1018.

    Article  CAS  PubMed  Google Scholar 

  • Umemura, A., Toyoda, T., Yamamoto, K., Oka, Y., Ishii, F., & Yamada, K. (2008). Apraxia of eyelid opening after subthalamic deep brain stimulation may be caused by reduction of levodopa. Parkinsonism & Related Disorders, 14(8), 655–657.

    Article  Google Scholar 

  • Valls-Sole, J., & Defazio, G. (2016). Blepharospasm: Update on epidemiology, clinical aspects, and pathophysiology. Frontiers in Neurology, 7(45), 1–8.

    Google Scholar 

  • VanderWerf, F., Brassinga, P., Reits, D., et al. (2003). Eyelid movements: Behavioral studies of blinking in humans under different stimulus conditions. Journal of Neurophysiology, 89, 2784–2796.

    Article  PubMed  Google Scholar 

  • Verhulst, S., Smet, H., De Wilde, F., & Tassignon, M. J. (1994). Levator aponeurosis dehiscence in a patient treated with botulinum toxin for blepharospasms and eyelid apraxia. Bull Soc Belge Ophthalmol, 252, 51–53.

    CAS  Google Scholar 

  • Verma, R., Lalla, R., & Patil, T. B. (2012). Is blinking of the eyes affected in extrapyramidal disorders? An interesting observation in a patient with Wilson disease. BML Case Reports. https://doi.org/10.1136/bcr-2012-007367.

  • Weiss, E. M., Hershey, T., Karimi, M., Racette, B., Tabbal, S. D., Mink, J. W., Paniello, R. C., & Perlmutter, J. S. (2006). Relative risk of spread of symptoms among the focal onset dystonias. Movement Disorders, 21(8), 1175–1181.

    Article  PubMed  Google Scholar 

  • Weiss, D., Wächter, T., Breit, S., Jacob, S. N., Pomper, J. K., Asmus, F., Valls-Solé, J., Plewnia, C., Gasser, T., Gharabaghi, A., & Krüger, R. (2010a). Involuntary eyelid closure after STN-DBS: Evidence for different pathophysiological entities. JNNP, 81(9), 1002–1007.

    Google Scholar 

  • Weiss, D., Wächter, T., Breit, S., et al. (2010b). Involuntary eyelid closure after STN-DBS: Evidence for different pathophysiological entities. Journal of Neurology, Neurosurgery, and Psychiatry, 81, 1002–1007.

    Article  PubMed  Google Scholar 

  • Wong, K. T., Dick, D., & Anderson, J. R. (1996). Mitochondrial abnormalities in oculopharyngeal muscular dystrophy. Neuromuscular Disorders, 6(3), 163–166.

    Article  CAS  PubMed  Google Scholar 

  • Xing, S., Chen, L., Chen, X., Pei, Z., Zeng, J., & Li, J. (2008). Excessive blinking as an initial manifestation of juvenile Huntington’s disease. Neurological Sciences, 29(4), 275–277.

    Article  PubMed  Google Scholar 

  • Yamada, S., Matsuo, K., Hirayama, M., & Sobue, G. (2004). The effects of levodopa on apraxia of lid opening: A case report. Neurology, 62(5), 830–831.

    Article  CAS  PubMed  Google Scholar 

  • Yamada, K., Shinojima, N., Hamasaki, T., & Kuratsu, J. (2016). Pallidal stimulation for medically intractable blepharospasm. BML Case Reports. https://doi.org/10.1136/bcr-2015-214241.

  • Yoon, W. T., Chung, E. J., Lee, S. H., Kim, B. J., & Lee, W. Y. (2005). Clinical analysis of blepharospasm and apraxia of eyelid opening in patients with parkinsonism. Journal of Clinical Neurology, 1(2), 159–165.

    Article  PubMed  PubMed Central  Google Scholar 

  • Yuksel, D., Orban de Xivry, J. J., & Lefevre, P. (2010). Review of the major findings about Duane retraction syndrome (DRS) leading to an updated form of classification. Vision Research, 50(23), 2334–2347.

    Article  PubMed  Google Scholar 

  • Yum, K., Wang, E. T., & Kalsotra, A. (2017). Myotonic dystrophy: Disease repeat range, penetrance, age of onset, and relationship between repeat size and phenotypes. Current Opinion in Genetics & Development, 44, 30–37.

    Article  CAS  Google Scholar 

  • Zee, D. S., Chu, F. C., Leigh, R. J., Savino, P. J., Schatz, N. J., Reingold, D. B., & Cogan, D. G. (1983). Blink-saccade dynkinesis. Neurology, 33(9), 1233–1236.

    Article  CAS  PubMed  Google Scholar 

  • Zhou, B., Wang, J., Huang, Y., Yang, Y., Gong, Q., & Zhou, D. (2013). A resting state functional magnetic resonance imaging study of patients with benign essential blepharospasm. Journal of Neuro-Ophthalmology, 33(3), 235–240.

    Article  CAS  PubMed  Google Scholar 

  • Zuhlke, C., Mikat, B., Timmann, D., Wieczorek, D., Gillessen-Kaesbach, G., & Burk, K. (2015). Spinocerebellar ataxia 28: Novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing. Cerebellum Ataxias, 2, 19.

    Article  PubMed  PubMed Central  Google Scholar 

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Authors and Affiliations

  1. Department of Neurology, Hospital of the University of Pennsylvania, Philadelphia, PA, USA

    Dr. Ali G. Hamedani MD, MHS

  2. Departments of Neurology, Ophthalmology, Neurosurgery, and Otolaryngology – Head & Neck Surgery, Johns Hopkins Hospital, Baltimore, MD, USA

    Dr. Daniel R. Gold DO

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  1. Dr. Ali G. Hamedani MD, MHS
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Correspondence to Ali G. Hamedani MD, MHS .

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  1. Neurological Institute, University Hospitals Neurology Service, Louis Stokes Cleveland, VA Medical Center, Department of Neurology, Case Western Reserve University, Cleveland, OH, USA

    Aasef Shaikh

  2. Pediatric Ophthalmology, Cole Eye Institute, Cleveland Clinic, Cleveland, OH, USA

    Fatema Ghasia

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Hamedani, A.G., Gold, D.R. (2019). Eyelid Dysfunction in Neurodegenerative, Neurogenetic, and Neurometabolic Disease. 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_20

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