M Moscovich1, Michael S Okun, Chris Favilla, Karla P Figueroa, Stefan M Pulst, Susan Perlman, George Wilmot, Christopher Gomez, Jeremy Schmahmann, Henry Paulson, Vikram Shakkottai, Sarah Ying, Theresa Zesiewicz, S H Kuo, P Mazzoni, Khalaf Bushara, Guangbin Xia, Tetsuo Ashizawa, S H Subramony. 1. Department of Neurology (MM, MSO, CF, GX, TA, SHS), McKnight Brain Institute, University of Florida, Gainesville, Florida; Department of Neurology (KPF, SMP), University of Utah, Salt Lake City, Utah; Department of Neurology (SP), University of California, Los Angeles, Los Angeles, California; Department of Neurology (GW), Emory University, Atlanta, Georgia; Department of Neurology (CG), University of Chicago, Chicago, Illinois; Department of Neurology (JS), Massachusetts General Hospital, Harvard Medical School; Department of Neurology (HP, VS), University of Michigan, Ann Arbor, Michigan; Department of Neurology (SY), Johns Hopkins University, Baltimore, Maryland; Department of Neurology (TZ), University of South Florida, Tampa, Florida; Department of Neurology (SHK, PM), Columbia University, New York, New York; and Department of Neurology (KB), University of Minnesota, Minneapolis, Minnesota.
Abstract
BACKGROUND: Ocular motor abnormalities reflect the varied neuropathology of spinocerebellar ataxias (SCAs) and may serve to clinically distinguish the different SCAs. We analyzed the various eye movement abnormalities detected prospectively at the baseline visit during a large multicenter natural history study of SCAs 1, 2, 3, and 6. METHODS: The data were prospectively collected from 12 centers in the United States in patients with SCAs 1, 2, 3, and 6, as part of the Clinical Research Consortium for Spinocerebellar Ataxias (NIH-CRC-SCA). Patient characteristics, ataxia rating scales, the Unified Huntington Disease Rating Scale functional examination, and clinical staging were used. Eye movement abnormalities including nystagmus, disorders of saccades and pursuit, and ophthalmoparesis were recorded, and factors influencing their occurrence were examined. RESULTS: A total of 301 patients participated in this study, including 52 patients with SCA 1, 64 with SCA 2, 117 with SCA 3, and 68 with SCA 6. Although no specific ocular motor abnormality was pathognomonic to any SCA, significant differences were noted in their occurrence among different disorders. SCA 6 was characterized by frequent occurrence of nystagmus and abnormal pursuit and rarity of slow saccades and ophthalmoparesis and SCA 2 by the frequent occurrence of slow saccades and infrequent nystagmus and dysmetric saccades. SCA 1 and SCA 3 subjects had a more even distribution of eye movement abnormalities. CONCLUSIONS: Prospective data from a large cohort of patients with SCAs 1, 2, 3, and 6 provide statistical validation that the SCAs exhibit distinct eye movement abnormalities that are useful in identifying the genotypes. Many of the abnormalities correlate with greater disease severity measures.
BACKGROUND:Ocular motor abnormalities reflect the varied neuropathology of spinocerebellar ataxias (SCAs) and may serve to clinically distinguish the different SCAs. We analyzed the various eye movement abnormalities detected prospectively at the baseline visit during a large multicenter natural history study of SCAs 1, 2, 3, and 6. METHODS: The data were prospectively collected from 12 centers in the United States in patients with SCAs 1, 2, 3, and 6, as part of the Clinical Research Consortium for Spinocerebellar Ataxias (NIH-CRC-SCA). Patient characteristics, ataxia rating scales, the Unified Huntington Disease Rating Scale functional examination, and clinical staging were used. Eye movement abnormalities including nystagmus, disorders of saccades and pursuit, and ophthalmoparesis were recorded, and factors influencing their occurrence were examined. RESULTS: A total of 301 patients participated in this study, including 52 patients with SCA 1, 64 with SCA 2, 117 with SCA 3, and 68 with SCA 6. Although no specific ocular motor abnormality was pathognomonic to any SCA, significant differences were noted in their occurrence among different disorders. SCA 6 was characterized by frequent occurrence of nystagmus and abnormal pursuit and rarity of slow saccades and ophthalmoparesis and SCA 2 by the frequent occurrence of slow saccades and infrequent nystagmus and dysmetric saccades. SCA 1 and SCA 3 subjects had a more even distribution of eye movement abnormalities. CONCLUSIONS: Prospective data from a large cohort of patients with SCAs 1, 2, 3, and 6 provide statistical validation that the SCAs exhibit distinct eye movement abnormalities that are useful in identifying the genotypes. Many of the abnormalities correlate with greater disease severity measures.
Authors: S H Subramony; W May; D Lynch; C Gomez; K Fischbeck; M Hallett; P Taylor; R Wilson; T Ashizawa Journal: Neurology Date: 2005-04-12 Impact factor: 9.910
Authors: T Ikeuchi; H Takano; R Koide; Y Horikawa; Y Honma; Y Onishi; S Igarashi; H Tanaka; N Nakao; K Sahashi; H Tsukagoshi; K Inoue; H Takahashi; S Tsuji Journal: Ann Neurol Date: 1997-12 Impact factor: 10.422
Authors: Michael Strupp; Katharina Hüfner; Ruth Sandmann; Andreas Zwergal; Marianne Dieterich; Klaus Jahn; Thomas Brandt Journal: Dtsch Arztebl Int Date: 2011-03-25 Impact factor: 5.594
Authors: S Rivaud-Pechoux; A Dürr; B Gaymard; G Cancel; C J Ploner; Y Agid; A Brice; C Pierrot-Deseilligny Journal: Ann Neurol Date: 1998-03 Impact factor: 10.422
Authors: A Dürr; D Smadja; G Cancel; A Lezin; G Stevanin; J Mikol; R Bellance; G G Buisson; H Chneiweiss; J Dellanave Journal: Brain Date: 1995-12 Impact factor: 13.501
Authors: Tetsuo Ashizawa; Karla P Figueroa; Susan L Perlman; Christopher M Gomez; George R Wilmot; Jeremy D Schmahmann; Sarah H Ying; Theresa A Zesiewicz; Henry L Paulson; Vikram G Shakkottai; Khalaf O Bushara; Sheng-Han Kuo; Michael D Geschwind; Guangbin Xia; Pietro Mazzoni; Jeffrey P Krischer; David Cuthbertson; Amy Roberts Holbert; John H Ferguson; Stefan M Pulst; S H Subramony Journal: Orphanet J Rare Dis Date: 2013-11-13 Impact factor: 4.123
Authors: Lan Luo; Jie Wang; Raymond Y Lo; Karla P Figueroa; Stefan M Pulst; Pei-Hsin Kuo; Susan Perlman; George Wilmot; Christopher M Gomez; Jeremy Schmahmann; Henry Paulson; Vikram G Shakkottai; Sarah H Ying; Theresa Zesiewicz; Khalaf Bushara; Michael Geschwind; Guangbin Xia; S H Subramony; Tetsuo Ashizawa; Sheng-Han Kuo Journal: Cerebellum Date: 2017-06 Impact factor: 3.847
Authors: Raymond Y Lo; Karla P Figueroa; Stefan M Pulst; Susan Perlman; George Wilmot; Christopher Gomez; Jeremy Schmahmann; Henry Paulson; Vikram G Shakkottai; Sarah Ying; Theresa Zesiewicz; Khalaf Bushara; Michael Geschwind; Guangbin Xia; Jui-Tsen Yu; Lue-En Lee; Tetsuo Ashizawa; S H Subramony; Sheng-Han Kuo Journal: Parkinsonism Relat Disord Date: 2015-11-22 Impact factor: 4.891
Authors: Christopher D Stephen; David Balkwill; Peter James; Elizabeth Haxton; Kenneth Sassower; Jeremy D Schmahmann; Florian Eichler; Richard Lewis Journal: Neurology Date: 2020-01-21 Impact factor: 9.910
Authors: Andrew K Sobering; Dong Li; Jennifer S Beighley; John C Carey; Tyhiesia Donald; Sarah H Elsea; Karla P Figueroa; Jennifer Gerdts; Andre Hamlet; Ghayda M Mirzaa; Beverly Nelson; Stefan M Pulst; Janice L Smith; Flora Tassone; Helga V Toriello; Ruth H Walker; Katherine R Yearwood; Elizabeth J Bhoj Journal: Am J Med Genet C Semin Med Genet Date: 2020-12-04 Impact factor: 3.908
Authors: Sirio Cocozza; Giuseppe Pontillo; Giovanna De Michele; Martina Di Stasi; Elvira Guerriero; Teresa Perillo; Chiara Pane; Anna De Rosa; Lorenzo Ugga; Arturo Brunetti Journal: Neuroradiology Date: 2021-03-17 Impact factor: 2.804