Saratov JOURNAL of Medical and Scientific Research
Home

Oculomotor abnormalities in Huntington's disease patients and premanifest gene carriers

Year: 2018, volume 14 Issue: №4 Pages: 922-928
Heading: Ophtalmology Article type: Original article
Authors: Svetozarskiy S.N., Kopishinskaya S.V., Smetankin I.G.
Organization: Privolzhskiy Research Medical University, Volga District Medical Center of FMBA
Summary:

Purpose: to establish oculomotor features in manifest Huntington's disease (HD) patients and premanifest gene carriers compared with controls. Material and Methods. The study involved 23 manifest HD patients, 21 premanifest gene carriers and 31 healthy volunteers. Binocular vision was evaluated using the four-point test. Direct and indirect pupil light reaction, convergence and accommodation response, head position, eye mobility and deviation were assessed. Slow eye movements, saccades and convergence were assessed. The criterion for clinical convergence insufficiency was defined as the near point of convergence of more than 5 cm. Patients from the target groups underwent DNA testing with an estimation of the CAG-repeats (cytosine-adenine-guanine) length in the huntingtin gene, an examination on the UHDRS motor scale (Unified Huntington's Disease Rating Scale) and had the duration of their disease determined. Results. The study showed that slow eye movements, initiation, speed and volume of saccades are disturbed in more than a half of manifest HD group. A high frequency (33%) of vertical slow eye movements disturbances was revealed in the premanifest HD group. Convergence insufficiency was found in manifest patients and HD carriers significantly more often than in the control group (p<0.001). Convergent eye movements were interrupted by uncontrolled saccades in 35% of manifest patients. A positive correlation was found between the distance to the near point of convergence and the UHDRS motor score, as well as with the number of CAG repeats. Conclusion. The study added new insights to the well-known picture of oculomotor disturbances in manifest HD patients, especially considering convergence characteristic. The leading symptoms of oculomotor abnormalities in premanifest HD carriers were identified. To designate the discussed complex of symptoms, a descriptive term "hyperkinetic oculomotor disorder" was proposed.

Keywords: convergence, Huntington's disease, neuroophthalmology, oculomotor disorders, saccades

Bibliography:
1 Klyushnikov SA, Aziatskaya GA. Oculomotor disorders in neurological practice. Nervnye bolezni 2015; (4): 41-7
2 Shamshinova AM, Volkov VV. Functional methods in ophthalmology. M.: Meditsina, 1999; 416 p.
3 Khazali М, Pomper J, Smilgin A, etal. A new motor synergy that serves the needs of oculomotor and eye lid systems while keeping the downtime of vision minimal. eLife 2016; (5): e16290
4 McColgan P, Tabrizi S. Huntington's disease: a clinical review. Eur J Neurol 2018; 25 (1): 24-34. 5 Illarioshkin SN, Klyushnikov SA, Seliverstov YuA. Huntington's disease. M.: Atmosfera, 2018; 472 p.
6 Seliverstov YuA, Klyushnikov SA, Illarioshkin SN Epidemiology of Huntington's disease: the situation in the world and in Russia. Neurology and neurosurgery. Eastern Europe 2015; (S): 72-3
7 Demetriou С, Heraclides A, Salafori С, et al. Epidemiology of Huntington disease in Cyprus: A 20-year retrospective study. Clin Genet 2018; (93): 656-64
8 Fisher E, Hayden M Multisource ascertainment of Huntington disease in Canada: Prevalence and population at risk. Mov Disord 2013; (29): 105-14
9 Evans S, Douglas I, Rawlins M, et al. Prevalence of adult Huntington's disease in the UK based on diagnoses recorded in general practice records. J Neurol Neurosurg Psychiatry 2013; (84): 1156-60
10 Rub U, Heinsen H, Brunt E, et al. The human premotor oculomotor brainstem system — can it help to understand oculomotor symptoms in Huntington's disease? Neuropathol Appl Neurobiol 2009; (35): 4-15
11 Hicks SL, Robert MP, Golding CV, et al. Oculomotor deficits indicate the progression of Huntington's disease. Progress in Brain Research 2008; (171): 555-8
12 Gorges M, Pinkhardt EH, Kassubek J. Alterations of eye movement control in neurodegenerative movement disorders. J Ophthalmol 2014; (2014): 658243
13 Aimer Z, Klein KS, Marsh L, et al. Ocular motor and sensory function in Parkinson disease. Ophthalmology 2012; 119 (1): 178-82
14 Henderson T, Georgiou-Karistianis N, White O, et al. Inhibitory control during smooth pursuit in Parkinson's disease and Huntington's disease. Mov Disord 2011; 26 (10): 1893-99
15 Becker W, Jurgens R, Kassubek J, et al. Eye-head coordination in moderately affected Huntington's disease patients: do head movements facilitate gaze shifts? Experimental Brain Research 2009; 192 (1): 97-112
16 Fielding J, Georgiou-Karistianis N, Bradshaw J, et al. Impaired modulation of the vestibulo-ocular reflex in Huntington's disease. Mov Disord 2004; 19 (1): 68-75
17 Turner TH, Goldstein J, Hamilton JM, et al. Behavioral measures of saccade latency and inhibition in manifest and premanifest Huntington's disease. Journal of Motor Behavior 2011; 43 (4): 295-302
18 Fielding J, Georgiou-Karistianis N, White O. The role of the basal ganglia in the control of automatic visuospatial attention. Journal of the International Neuropsychological Society 2006; 12 (5): 657-67
19 Blekher T, Johnson SA, Marshall J, et al. Saccades in presymptomatic and early stages of Huntington disease. Neurology 2006; 67 (3): 394-9
20 Patel SS, Jankovic J, Hood AJ, et al. Reflexive and volitional saccades: biomarkers of Huntington disease severity and progression. Journal ofthe Neurological Sciences 2012; 313 (1-2): 35-41
21 Say MJ, Jones R, Scahill Rl, et al. Visuomotor integration deficits precede clinical onset in Huntington's disease. Neuropsychologia 2011; 49 (2): 264-70
22 Blekher T, Yee R, Kirkwood S, etal. Oculomotor control in asymptomatic and recently diagnosed individuals with the genetic marker for Huntington's disease. Vision Res 2004; (44): 2729-36
23 Hicks SL, Robert MP, Golding CV, et al. Oculomotor deficits indicate the progression of Huntington's disease. Progress in Brain Research 2008; (171): 555-8
24 AntoniadesC,Altham P, Mason S,etal. Saccadometry: a new tool for evaluating presymptomatic Huntington patients. Neuroreport 2007; (18): 1133-6
25 Huntington Study Group. Unified Huntington's disease rating scale: reliability and consistency. Mov Disord 1996; (11): 136-42
26 Scheiman M, Gallaway M, Frantz K, et al. Nearpoint of convergence: test procedure, target selection, and normative data. Optom Vis Sci 2003; 80 (3): 214-25
27 Shippman S, Infantino J, Cimbol D, et al. Convergence insufficiency with normal parameters. J Pediatr Ophthalmol Strabismus 1983; (20): 158-161
28 Wnder JY, Roos RAC Premanifest Huntington's disease: examination of oculomotor abnormalities in clinical practice. PLoS ONE 2018; 13 (3): e0193866
29 Leigh R, Newman S, Folstein S, et al. Abnormal ocular motor control in Huntington's disease. Neurology 1983; 33 (10): 1268-8
30 Svetozarskiy SN, Kopishinskaya SV, Gustov AV, et al. Ophthalmic manifestations of Huntington's disease. Vestnik oftalmologii 2015; 131 (5): 82-6.

AttachmentSize
2018_4-2_922-928.pdf323.66 KB
All articles of the authors: Kopishinskaya S.V. , Smetankin I.G. , Svetozarskiy S.N.

No votes yet