The saccadic and neurological deficits in type 3 Gaucher disease

PLoS ONE

Volumn 6, Issue 7, 2011, Pages

  Benko, William ^a   Ries, Markus ^b   Wiggs, Edythe A ^a   Brady, Roscoe O ^a   Schiffmann, Raphael ^a,c   FitzGibbon, Edmond J ^d  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^c BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^d NATIONAL EYE INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; BRAIN FUNCTION; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE COURSE; EYE HAND COORDINATION; EYE MOVEMENT DISORDER; FEMALE; GAUCHER DISEASE; HUMAN; INTELLIGENCE QUOTIENT; LATENT PERIOD; MALE; SACCADIC EYE MOVEMENT; SCHOOL CHILD; TASK PERFORMANCE; ADOLESCENT; BRAIN; CLINICAL TRIAL; NEUROPHYSIOLOGY; PATHOPHYSIOLOGY; PROSPECTIVE STUDY; TIME;

ADOLESCENT; ADULT; BRAIN; CHILD; FEMALE; GAUCHER DISEASE; HUMANS; MALE; NEUROPHYSIOLOGY; PROSPECTIVE STUDIES; SACCADES; TIME FACTORS; YOUNG ADULT;

EID: 79960611799     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0022410     Document Type: Article

References (29)

1. Brady RO, Kanfer JN, Bradley RM, Shapiro D, (1966) Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease. J Clin Invest 45: 1112-1115.
2. Wong K, Sidransky E, Verma A, Mixon T, Sandberg GD, et al. (2004) Neuropathology provides clues to the pathophysiology of Gaucher disease. Mol Genet Metab 82: 192-207.
3. Schiffmann R, Vellodi A, (2007) Neuronopathic Gaucher Disease. In: Futerman AH, Zimran A, editors. Gaucher disease Boca Raton Florida CRC Press Taylor & Francis pp. 175-196.
4. Enquist IB, Lo Bianco C, Ooka A, Nilsson E, Mansson JE, et al. (2007) Murine models of acute neuronopathic Gaucher disease. Proc Natl Acad Sci U S A 104: 17483-17488.
5. Garbutt S, Harwood MR, Harris CM, (2001) Comparison of the main sequence of reflexive saccades and the quick phases of optokinetic nystagmus. Br J Ophthalmol 85: 1477-1483.
6. Harris CM, Taylor DS, Vellodi A, (1999) Ocular motor abnormalities in Gaucher disease. Neuropediatrics 30: 289-293.
7. Schiffmann R, Fitzgibbon EJ, Harris C, DeVile C, Davies EH, et al. (2008) Randomized, controlled trial of miglustat in Gaucher's disease type 3. Ann Neurol 64: 514-522.
8. Garbutt S, Harris CM, (2000) Abnormal vertical optokinetic nystagmus in infants and children. Br J Ophthalmol 84: 451-455.
9. Vellodi A, Tylki-Szymanska A, Davies EH, Kolodny E, Bembi B, et al. (2009) Management of neuronopathic Gaucher disease: revised recommendations. J Inherit Metab Dis 32: 660-664.
10. Leigh RJ, Kennard C, (2004) Using saccades as a research tool in the clinical neurosciences. Brain 127: 460-477.
11. Saavedra S, Joshi A, Woollacott M, van Donkelaar P, (2009) Eye hand coordination in children with cerebral palsy. Exp Brain Res 192: 155-165.
12. Myung JY, Blumstein SE, Yee E, Sedivy JC, Thompson-Schill SL, et al. (2010) Impaired access to manipulation features in Apraxia: evidence from eyetracking and semantic judgment tasks. Brain Lang 112: 101-112.
13. Sacrey LA, Travis SG, Whishaw IQ, (2011) Drug treatment and familiar music aids an attention shift from vision to somatosensation in Parkinson's disease on the reach-to-eat task. Behav Brain Res 217: 391-398.
14. Rand MK, Stelmach GE, (2011) Effects of hand termination and accuracy requirements on eye-hand coordination in older adults. Behav Brain Res 219: 39-46.
15. Garvey MA, Toro C, Goldstein S, Altarescu G, Wiggs EA, et al. (2001) Somatosensory evoked potentials as a marker of disease burden in type 3 Gaucher disease. Neurology 56: 391-394.
16. Campbell PE, Harris CM, Vellodi A, (2004) Deterioration of the auditory brainstem response in children with type 3 Gaucher disease. Neurology 63: 385-387.
17. Lacey DJ, Terplan K, (1984) Correlating auditory evoked and brainstem histologic abnormalities in infantile Gaucher's disease. Neurology 34: 539-541.
18. Inchingolo P, Spanio M, (1985) On the identification and analysis of saccadic eye movements--a quantitative study of the processing procedures. IEEE Trans Biomed Eng 32: 683-695.
19. Hays AV, Richmond BJ, Optican LM, (1982) A UNIX-based multiple process system for real-time data acquisition and control. WESCON Conference Proceedings 2: 1-10.
20. Inchingolo P, Spanio M, Bianchi M, (1987) The characteristics peak velocity- mean velocity of saccadic eye movements in man. In: O'Regan JK, Levy-Shoen A, editors. Eye movements: from physiology to cognition Amsterdam Elsevier Science Publishers pp. 17-26.
21. Altarescu G, Hill S, Wiggs E, Jeffries N, Kreps C, et al. (2001) The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease. J Pediatr 138: 539-547.
22. Yeudall LT, Fromm D, Reddon JR, Stefanyk WO, (1986) Normative data streatified by age and sex for 12 neuropsychological tests Journal of Clinical Psychology 42: 918-946.
23. Gardner RA, Broman M, (1979) The Purdue Pegbord: Normative data on 1334 school children. Journal of Clinical Child Psychology 8: 156-162.
24. Bhidayasiri R, Riley DE, Somers JT, Lerner AJ, Buttner-Ennever JA, et al. (2001) Pathophysiology of slow vertical saccades in progressive supranuclear palsy. Neurology 57: 2070-2077.
25. Fleming TR, DeMets DL, (1996) Surrogate end points in clinical trials: are we being misled? Ann Intern Med 125: 605-613.
26. Prentice RL, (1989) Surrogate endpoints in clinical trials: definition and operational criteria. Stat Med 8: 431-440.
27. Patterson MC, Vecchio D, Prady H, Abel L, Wraith JE, (2007) Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet Neurol 6: 765-772.
28. Reyes-Puerta V, Philipp R, Lindner W, Hoffmann KP, (2010) Role of the rostral superior colliculus in gaze anchoring during reach movements. J Neurophysiol 103: 3153-3166.
29. Nummela SU, Krauzlis RJ, (2010) Inactivation of primate superior colliculus biases target choice for smooth pursuit, saccades, and button press responses. J Neurophysiol 104: 1538-1548.