Visual oculomotor abnormalities and vestibulo‑ocular reflex dynamics in polyglutamine spinocerebellar ataxias (Review)
- Authors:
- Yufen Peng
- Qi Tu
- Yao Han
- Chenyi Wan
- Liang Gao
-
Affiliations: Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang, Jiangxi 330006, P.R. China - Published online on: June 6, 2023 https://doi.org/10.3892/etm.2023.12057
- Article Number: 358
This article is mentioned in:
Abstract
Klockgether T, Mariotti C and Paulson HL: Spinocerebellar ataxia. Nat Rev Dis Primers. 5(24)2019.PubMed/NCBI View Article : Google Scholar | |
Ruano L, Melo C, Silva MC and Coutinho P: The global epidemiology of hereditary ataxia and spastic paraplegia: A systematic review of prevalence studies. Neuroepidemiology. 42:174–183. 2014.PubMed/NCBI View Article : Google Scholar | |
Schmitz-Hubsch T, Coudert M, Bauer P, Giunti P, Globas C, Baliko L, Filla A, Mariotti C, Rakowicz M, Charles P, et al: Spinocerebellar ataxia types 1, 2, 3, and 6: Disease severity and nonataxia symptoms. Neurology. 71:982–989. 2008.PubMed/NCBI View Article : Google Scholar | |
Sun YM, Lu C and Wu ZY: Spinocerebellar ataxia: Relationship between phenotype and genotype-a review. Clin Genet. 90:305–314. 2016.PubMed/NCBI View Article : Google Scholar | |
Ashizawa T, Öz G and Paulson HL: Spinocerebellar ataxias: Prospects and challenges for therapy development. Nat Rev Neurol. 14:590–605. 2018.PubMed/NCBI View Article : Google Scholar | |
Paulson HL, Shakkottai VG, Clark HB and Orr HT: Polyglutamine spinocerebellar ataxias-from genes to potential treatments. Nat Rev Neurosci. 18:613–626. 2017.PubMed/NCBI View Article : Google Scholar | |
Schöls L, Bauer P, Schmidt T, Schulte T and Riess O: Autosomal dominant cerebellar ataxias: Clinical features, genetics, and pathogenesis. Lancet Neurol. 3:291–304. 2004.PubMed/NCBI View Article : Google Scholar | |
Monin ML, Tezenas du Montcel S, Marelli C, Cazeneuve C, Charles P, Tallaksen C, Forlani S, Stevanin G, Brice A and Durr A: Survival and severity in dominant cerebellar ataxias. Ann Clin Transl Neur. 2:202–207. 2015.PubMed/NCBI View Article : Google Scholar | |
Globas C, du Montcel ST, Baliko L, Boesch S, Depondt C, DiDonato S, Durr A, Filla A, Klockgether T, Mariotti C, et al: Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6. Mov Disord. 23:2232–2238. 2008.PubMed/NCBI View Article : Google Scholar | |
van de Warrenburg BP, Hendriks H, Dürr A, van Zuijlen MC, Stevanin G, Camuzat A, Sinke RJ, Brice A and Kremer BP: Age at onset variance analysis in spinocerebellar ataxias: A study in a Dutch-French cohort. Ann Neurol. 57:505–512. 2005.PubMed/NCBI View Article : Google Scholar | |
Durr A: Autosomal dominant cerebellar ataxias: Polyglutamine expansions and beyond. Lancet Neurol. 9:885–894. 2010.PubMed/NCBI View Article : Google Scholar | |
Jacobi H, du Montcel ST, Romanzetti S, Harmuth F, Mariotti C, Nanetti L, Rakowicz M, Makowicz G, Durr A, Monin M, et al: Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): A longitudinal cohort study. Lancet Neurol. 19:738–747. 2020.PubMed/NCBI View Article : Google Scholar | |
Seidel K, Siswanto S, Brunt ER, den Dunnen W, Korf HW and Rüb U: Brain pathology of spinocerebellar ataxias. Acta Neuropathol. 124:1–21. 2012.PubMed/NCBI View Article : Google Scholar | |
Fratkin JD and Vig PJ: Neuropathology of degenerative ataxias. Handb Clin Neurol. 103:111–125. 2012.PubMed/NCBI View Article : Google Scholar | |
Jacobi H, Reetz K, du Montcel ST, Bauer P, Mariotti C, Nanetti L, Rakowicz M, Sulek A, Durr A, Charles P, et al: Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: Analysis of baseline data. Lancet Neurol. 12:650–658. 2013.PubMed/NCBI View Article : Google Scholar | |
Moscovich M, Okun MS, Favilla C, Figueroa KP, Pulst SM, Perlman S, Wilmot G, Gomez C, Schmahmann J, Paulson H, et al: Clinical evaluation of eye movements in spinocerebellar ataxias: A prospective multicenter study. J Neuroophthalmol. 35:16–21. 2015.PubMed/NCBI View Article : Google Scholar | |
Rosini F, Pretegiani E, Battisti C, Dotti MT, Federico A and Rufa A: Eye movement changes in autosomal dominant spinocerebellar ataxias. Neurol Sci. 41:1719–1734. 2020.PubMed/NCBI View Article : Google Scholar | |
Park JY, Joo K and Woo SJ: Ophthalmic manifestations and genetics of the polyglutamine autosomal dominant spinocerebellar ataxias: A review. Front Neurosci. 14(892)2020.PubMed/NCBI View Article : Google Scholar | |
Stephen CD and Schmahmann JD: Eye movement abnormalities are ubiquitous in the spinocerebellar ataxias. Cerebellum. 18:1130–1136. 2019.PubMed/NCBI View Article : Google Scholar | |
Halmagyi GM, Chen L, MacDougall HG, Weber KP, McGarvie LA and Curthoys IS: The video head impulse test. Front Neurol. 8(285)2017.PubMed/NCBI View Article : Google Scholar | |
Choi JY, Kim HJ and Kim JS: Recent advances in head impulse test findings in central vestibular disorders. Neurology. 90:602–612. 2018.PubMed/NCBI View Article : Google Scholar | |
Orr HT, Chung MY, Banfi S, Kwiatkowski TJ Jr, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LP and Zoghbi HY: Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet. 4:221–226. 1993.PubMed/NCBI View Article : Google Scholar | |
Jacobi H, Bauer P, Giunti P, Labrum R, Sweeney MG, Charles P, Durr A, Marelli C, Globas C, Linnemann C, et al: The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study. Neurology. 77:1035–1041. 2011.PubMed/NCBI View Article : Google Scholar | |
Jacobi H, du Montcel ST, Bauer P, Giunti P, Cook A, Labrum R, Parkinson MH, Durr A, Brice A, Charles P, et al: Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: A longitudinal cohort study. Lancet Neurol. 14:1101–1108. 2015.PubMed/NCBI View Article : Google Scholar | |
Diallo A, Jacobi H, Cook A, Labrum R, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, et al: Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): A longitudinal cohort study. Lancet Neurol. 17:327–334. 2018.PubMed/NCBI View Article : Google Scholar | |
Robitaille Y, Schut L and Kish SJ: Structural and immunocytochemical features of olivopontocerebellar atrophy caused by the spinocerebellar ataxia type 1 (SCA-1) mutation define a unique phenotype. Acta Neuropathol. 90:572–581. 1995.PubMed/NCBI View Article : Google Scholar | |
Jacobi H, Hauser T, Giunti P, Globas C, Bauer P, Schmitz-Hübsch T, Baliko L, Filla A, Mariotti C, Rakowicz M, et al: Spinocerebellar ataxia types 1, 2, 3 and 6: The clinical spectrum of ataxia and morphometric brainstem and cerebellar findings. Cerebellum. 11:155–166. 2012.PubMed/NCBI View Article : Google Scholar | |
Orr HT and Zoghbi HY: Trinucleotide repeat disorders. Annu Rev Neurosci. 30:575–621. 2007.PubMed/NCBI View Article : Google Scholar | |
Seshagiri DV, Pal PK, Jain S and Yadav R: Optokinetic nystagmus in patients with SCA: A bedside test for oculomotor dysfunction grading. Neurology. 91:e1255–e1261. 2018.PubMed/NCBI View Article : Google Scholar | |
Kim M, Ahn JH, Mun JK, Choi EH, Kim JS, Youn J and Cho JW: Extracerebellar signs and symptoms in 117 Korean patients with early-stage spinocerebellar ataxia. J Clin Neurol. 17:242–248. 2021.PubMed/NCBI View Article : Google Scholar | |
Alexandre MF, Rivaud-Péchoux S, Challe G, Durr A and Gaymard B: Functional consequences of oculomotor disorders in hereditary cerebellar ataxias. Cerebellum. 12:396–405. 2013.PubMed/NCBI View Article : Google Scholar | |
Kim JS, Kim JS, Youn J, Seo DW, Jeong Y, Kang JH, Park JH and Cho JW: Ocular motor characteristics of different subtypes of spinocerebellar ataxia: Distinguishing features. Mov Disord. 28:1271–1277. 2013.PubMed/NCBI View Article : Google Scholar | |
Seshagiri DV, Sasidharan A, Kumar G, Pal PK, Jain S, Kutty BM and Yadav R: Challenges in sleep stage R scoring in patients with autosomal dominant spinocerebellar ataxias (SCA1, SCA2 and SCA3) and oculomotor abnormalities: A whole night polysomnographic evaluation. Sleep Med. 42:97–102. 2018.PubMed/NCBI View Article : Google Scholar | |
Burk K, Fetter M, Abele M, Laccone F, Brice A, Dichgans J and Klockgether T: Autosomal dominant cerebellar ataxia type I: Oculomotor abnormalities in families with SCA1, SCA2, and SCA3. J Neurol. 246:789–797. 1999.PubMed/NCBI View Article : Google Scholar | |
Luis L, Costa J, Muñoz E, de Carvalho M, Carmona S, Schneider E, Gordon CR and Valls-Solé J: Vestibulo-ocular reflex dynamics with head-impulses discriminates spinocerebellar ataxias types 1, 2 and 3 and Friedreich ataxia. J Vestibul Res. 26:327–334. 2016.PubMed/NCBI View Article : Google Scholar | |
Scoles DR and Pulst SM: Spinocerebellar Ataxia Type 2. Adv Exp Med Biol. 1049:175–195. 2018.PubMed/NCBI View Article : Google Scholar | |
Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, Pearlman S, Starkman S, Orozco-Diaz G, Lunkes A, et al: Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet. 14:269–276. 1996.PubMed/NCBI View Article : Google Scholar | |
Fernandez M, McClain ME, Martinez RA, Snow K, Lipe H, Ravits J, Bird TD and La Spada AR: Late-onset SCA2: 33 CAG repeats are sufficient to cause disease. Neurology. 55:569–572. 2000.PubMed/NCBI View Article : Google Scholar | |
Charles P, Camuzat A, Benammar N, Sellal F, Destee A, Bonnet AM, Lesage S, Le Ber I, Stevanin G, Durr A, et al: Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism? Neurology. 69:1970–1975. 2007.PubMed/NCBI View Article : Google Scholar | |
Elden AC, Kim HJ, Hart MP, Chen-Plotkin AS, Johnson BS, Fang X, Armakola M, Geser F, Greene R, Lu MM, et al: Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature. 466:1069–1075. 2010.PubMed/NCBI View Article : Google Scholar | |
Chio A, Calvo A, Moglia C, Canosa A, Brunetti M, Barberis M, Restagno G, Conte A, Bisogni G, Marangi G, et al: ATXN2 polyQ intermediate repeats are a modifier of ALS survival. Neurology. 84:251–258. 2015.PubMed/NCBI View Article : Google Scholar | |
Politi LS, Bianchi Marzoli S, Godi C, Panzeri M, Ciasca P, Brugnara G, Castaldo A, Di Bella D, Taroni F, Nanetti L and Mariotti C: MRI evidence of cerebellar and extraocular muscle atrophy differently contributing to eye movement abnormalities in SCA2 and SCA28 diseases. Invest Ophthalmol Vis Sci. 57:2714–2720. 2016.PubMed/NCBI View Article : Google Scholar | |
Hersheson J, Haworth A and Houlden H: The inherited ataxias: Genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics. Hum Mutat. 33:1324–1332. 2012.PubMed/NCBI View Article : Google Scholar | |
Magaña JJ, Velázquez-Pérez L and Cisneros B: Spinocerebellar ataxia type 2: Clinical presentation, molecular mechanisms, and therapeutic perspectives. Mol Neurobiol. 47:90–104. 2013.PubMed/NCBI View Article : Google Scholar | |
van Gaalen J, Giunti P and van de Warrenburg BP: Mov Disorders in spinocerebellar ataxias. Mov Disord. 26:792–800. 2011. | |
Furtado S, Payami H, Lockhart PJ, Hanson M, Nutt JG, Singleton AA, Singleton A, Bower J, Utti RJ, Bird TD, et al: Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2). Mov Disord. 19:622–629. 2004.PubMed/NCBI View Article : Google Scholar | |
Yadav R, Pal PK, Krishna N, Amar BR, Jain S and Purushottam M: Electrophysiological evaluation of spinocerebellar ataxias 1, 2 and 3. J Neurol Sci. 312:142–145. 2012.PubMed/NCBI View Article : Google Scholar | |
Velázquez-Pérez L, Rodríguez-Labrada R, Canales-Ochoa N, Montero JM, Sánchez-Cruz G, Aguilera-Rodríguez R, Almaguer-Mederos LE and Laffita-Mesa JM: Progression of early features of spinocerebellar ataxia type 2 in individuals at risk: A longitudinal study. Lancet Neurol. 13:482–489. 2014.PubMed/NCBI View Article : Google Scholar | |
Velázquez-Pérez L, Rodríguez-Labrada R and Laffita-Mesa JM: Prodromal spinocerebellar ataxia type 2: Prospects for early interventions and ethical challenges. Mov Disord. 32:708–718. 2017.PubMed/NCBI View Article : Google Scholar | |
Velázquez-Pérez L, Seifried C, Santos-Falcón N, Abele M, Ziemann U, Almaguer LE, Martínez-Góngora E, Sánchez-Cruz G, Canales N, Pérez-González R, et al: Saccade velocity is controlled by polyglutamine size in spinocerebellar ataxia 2. Ann Neurol. 56:444–447. 2004.PubMed/NCBI View Article : Google Scholar | |
Velázquez-Pérez L, Seifried C, Abele M, Wirjatijasa F, Rodríguez-Labrada R, Santos-Falcón N, Sánchez-Cruz G, Almaguer-Mederos L, Tejeda R, Canales-Ochoa N, et al: Saccade velocity is reduced in presymptomatic spinocerebellar ataxia type 2. Clin Neurophysiol. 120:632–635. 2009.PubMed/NCBI View Article : Google Scholar | |
Rodríguez-Labrada R, Vázquez-Mojena Y, Canales-Ochoa N, Medrano-Montero J and Velázquez-Pérez L: Heritability of saccadic eye movements in spinocerebellar ataxia type 2: Insights into an endophenotype marker. Cerebellum Ataxias. 4(19)2017.PubMed/NCBI View Article : Google Scholar | |
Rodríguez-Labrada R, Velázquez-Pérez L, Seigfried C, Canales-Ochoa N, Auburger G, Medrano-Montero J, Sánchez-Cruz G, Aguilera-Rodríguez R, Laffita-Mesa J, Vázquez-Mojena Y, et al: Saccadic latency is prolonged in Spinocerebellar Ataxia type 2 and correlates with the frontal-executive dysfunctions. J Neurol Sci. 306:103–107. 2011.PubMed/NCBI View Article : Google Scholar | |
Rodríguez-Labrada R, Velázquez-Pérez L, Auburger G, Ziemann U, Canales-Ochoa N, Medrano-Montero J, Vázquez-Mojena Y and González-Zaldivar Y: Spinocerebellar ataxia type 2: Measures of saccade changes improve power for clinical trials. Mov Disord. 31:570–578. 2016.PubMed/NCBI View Article : Google Scholar | |
Rodríguez-Labrada R, Velázquez-Pérez L, Aguilera-Rodríguez R, Seifried-Oberschmidt C, Peña-Acosta A, Canales-Ochoa N, Medrano-Montero J, Estupiñan-Rodríguez A, Vázquez-Mojena Y, González-Zaldivar Y and Laffita Mesa JM: Executive deficit in spinocerebellar ataxia type 2 is related to expanded CAG repeats: Evidence from antisaccadic eye movements. Brain Cogn. 91:28–34. 2014.PubMed/NCBI View Article : Google Scholar | |
Pretegiani E, Piu P, Rosini F, Federighi P, Serchi V, Tumminelli G, Dotti MT, Federico A and Rufa A: Anti-Saccades in Cerebellar Ataxias Reveal a Contribution of the Cerebellum in Executive Functions. Front Neurol. 9(274)2018.PubMed/NCBI View Article : Google Scholar | |
Dankova M, Jerabek J, Jester DJ, Zumrova A, Paulasova Schwabova J, Cerny R, Kmetonyova S and Vyhnalek M: Clinical dynamic visual acuity in patients with cerebellar ataxia and vestibulopathy. PLoS One. 16(e255299)2021.PubMed/NCBI View Article : Google Scholar | |
Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, Kawakami H, Nakamura S, Nishimura M, Akiguchi I, et al: CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet. 8:221–228. 1994.PubMed/NCBI View Article : Google Scholar | |
van Alfen N, Sinke RJ, Zwarts MJ, Gabreels-Festen A, Praamstra P, Kremer BP and Horstink MW: Intermediate CAG repeat lengths (53,54) for MJD/SCA3 are associated with an abnormal phenotype. Ann Neurol. 49:805–807. 2001.PubMed/NCBI View Article : Google Scholar | |
Faber J, Schaprian T, Berkan K, Reetz K, França MC Jr, de Rezende TJR, Hong J, Liao W, van de Warrenburg B, ven Gaalen J, et al: Regional brain and spinal cord volume loss in spinocerebellar ataxia type 3. Mov Disord. 36:2273–2281. 2021.PubMed/NCBI View Article : Google Scholar | |
Guo J, Jiang Z, Biswal BB, Zhou B, Xie D, Gao Q, Sheng W, Chen H, Zhang Y, Fan Y, et al: Hypothalamic atrophy, expanded CAG repeat, and low body mass index in spinocerebellar ataxia type 3. Mov Disord. 37:1541–1546. 2022.PubMed/NCBI View Article : Google Scholar | |
Rossi M, Perez-Lloret S, Doldan L, Cerquetti D, Balej J, Millar Vernetti P, Hawkes M, Cammarota A and Merello M: Autosomal dominant cerebellar ataxias: A systematic review of clinical features. Eur J Neurol. 21:607–615. 2014.PubMed/NCBI View Article : Google Scholar | |
Jardim LB, Pereira ML, Silveira I, Ferro A, Sequeiros J and Giugliani R: Neurologic findings in Machado-Joseph disease: Relation with disease duration, subtypes, and (CAG)n. Arch Neurol. 58:899–904. 2001.PubMed/NCBI View Article : Google Scholar | |
Franklin GL, Meira AT, Camargo CHF, Nascimento FA and Teive HAG: Upward gaze palsy: A valuable sign to distinguish spinocerebellar ataxias. Cerebellum. 19:685–690. 2020.PubMed/NCBI View Article : Google Scholar | |
Lo RY, Figueroa KP, Pulst SM, Perlman S, Wilmot G, Gomez C, Schmahmann J, Paulson H, Shakkottai VG, Ying S, et al: Depression and clinical progression in spinocerebellar ataxias. Parkinsonism Relat Disord. 22:87–92. 2016.PubMed/NCBI View Article : Google Scholar | |
Lin J, Zhang L, Cao B, Wei Q, Ou R, Hou Y, Xu X, Liu K, Gu X and Shang H: Abnormal eye movements in spinocerebellar ataxia type 3. BMC Neurol. 21(28)2021.PubMed/NCBI View Article : Google Scholar | |
Lemos J, Novo A, Duque C, Cunha I, Ribeiro J, Castelhano J and Januário C: Static and dynamic ocular motor abnormalities as potential biomarkers in spinocerebellar ataxia type 3. Cerebellum. 20:402–409. 2021.PubMed/NCBI View Article : Google Scholar | |
Wu C, Chen DB, Feng L, Zhou XX, Zhang JW, You HJ, Liang XL, Pei Z and Li XH: Oculomotor deficits in spinocerebellar ataxia type 3: Potential biomarkers of preclinical detection and disease progression. CNS Neurosci Ther. 23:321–328. 2017.PubMed/NCBI View Article : Google Scholar | |
Raposo M, Vasconcelos J, Bettencourt C, Kay T, Coutinho P and Lima M: Nystagmus as an early ocular alteration in Machado-Joseph disease (MJD/SCA3). BMC Neurol. 14(17)2014.PubMed/NCBI View Article : Google Scholar | |
Gama MTD, Rezende Filho FM, Rezende TJR, Braga Neto P, França Junior MC, Pedroso JL and Barsottini OGP: Nystagmus may be the first neurological sign in early stages of spinocerebellar ataxia type 3. Arq Neuropsiquiat. 79:891–894. 2021.PubMed/NCBI View Article : Google Scholar | |
de Oliveira CM, Leotti VB, Bolzan G, Cappelli AH, Rocha AG, Ecco G, Kersting N, Rieck M, Martins AC, Sena LS, et al: Pre-ataxic changes of clinical scales and eye movement in machado-joseph disease: BIGPRO study. Mov Disord. 36:985–994. 2021.PubMed/NCBI View Article : Google Scholar | |
Ohyagi Y, Yamada T, Okayama A, Sakae N, Yamasaki T, Ohshima T, Sakamoto T, Fujii N and Kira J: Vergence disorders in patients with spinocerebellar ataxia 3/Machado-Joseph disease: A synoptophore study. J Neurol Sci. 173:120–123. 2000.PubMed/NCBI View Article : Google Scholar | |
Ghasia FF, Wilmot G, Ahmed A and Shaikh AG: Strabismus and micro-opsoclonus in machado-joseph disease. Cerebellum. 15:491–497. 2016.PubMed/NCBI View Article : Google Scholar | |
Lee SU, Kim HJ, Choi JY and Kim JS: Alternating monocular adducting saccadic pulses and dissociated adducting nystagmus during lateral gazes in spinocerebellar ataxia type 3. J Neurol. 267:279–281. 2020.PubMed/NCBI View Article : Google Scholar | |
Lemos J, Novo A, Duque C, Castelhano J, Eggenberger E and Januário C: ‘Pinball’ intrusions in spinocerebellar ataxia type 3. Neurology. 90:36–37. 2017.PubMed/NCBI View Article : Google Scholar | |
Gordon CR, Joffe V, Vainstein G and Gadoth N: Vestibulo-ocular arreflexia in families with spinocerebellar ataxia type 3 (Machado-Joseph disease). J Neurol Neurosurg Psychiatry. 74:1403–1406. 2003.PubMed/NCBI View Article : Google Scholar | |
Gordon CR, Zivotofsky AZ and Caspi A: Impaired vestibulo-ocular reflex (VOR) in spinocerebellar ataxia type 3 (SCA3): Bedside and search coil evaluation. J Vestibul Res. 24:351–355. 2014.PubMed/NCBI View Article : Google Scholar | |
Zaltzman R, Sharony R, Klein C and Gordon CR: Spinocerebellar ataxia type 3 in Israel: Phenotype and genotype of a Jew Yemenite subpopulation. J Neurol. 263:2207–2214. 2016.PubMed/NCBI View Article : Google Scholar | |
Gordon CR, Caspi A, Levite R and Zivotofsky AZ: Mechanisms of vestibulo-ocular reflex (VOR) cancellation in spinocerebellar ataxia type 3 (SCA-3) and episodic ataxia type 2 (EA-2). Prog Brain Res. 171:519–525. 2008.PubMed/NCBI View Article : Google Scholar | |
Geisinger D, Elyoseph Z, Zaltzman R, Mintz M and Gordon CR: Angular vestibulo ocular reflex loss with preserved saccular function in Machado-Joseph disease. J Neurol Sci. 424(117393)2021.PubMed/NCBI View Article : Google Scholar | |
Kordasiewicz HB, Thompson RM, Clark HB and Gomez CM: C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity. Hum Mol Genet. 15:1587–1599. 2006.PubMed/NCBI View Article : Google Scholar | |
Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY and Lee CC: Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet. 15:62–69. 1997.PubMed/NCBI View Article : Google Scholar | |
Gierga K, Schelhaas HJ, Brunt ER, Seidel K, Scherzed W, Egensperger R, de Vos RA, den Dunnen W, Ippel PF, Petrasch-Parwez E, et al: Spinocerebellar ataxia type 6 (SCA6): neurodegeneration goes beyond the known brain predilection sites. Neuropathol Appl Neurobiol. 35:515–527. 2009.PubMed/NCBI View Article : Google Scholar | |
Schulz JB, Borkert J, Wolf S, Schmitz-Hübsch T, Rakowicz M, Mariotti C, Schoels L, Timmann D, van de Warrenburg B, Dürr A, et al: Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6. Neuroimage. 49:158–168. 2010.PubMed/NCBI View Article : Google Scholar | |
Soong BW and Paulson HL: Spinocerebellar ataxias: An update. Curr Opin Neurol. 20:438–446. 2007.PubMed/NCBI View Article : Google Scholar | |
Rochester L, Galna B, Lord S, Mhiripiri D, Eglon G and Chinnery PF: Gait impairment precedes clinical symptoms in spinocerebellar ataxia type 6. Mov Disord. 29:252–255. 2014.PubMed/NCBI View Article : Google Scholar | |
Panouillères MTN, Joundi RA, Benitez-Rivero S, Cheeran B, Butler CR, Németh AH, Miall RC and Jenkinson N: Sensorimotor adaptation as a behavioural biomarker of early spinocerebellar ataxia type 6. Sci Rep. 7(2366)2017.PubMed/NCBI View Article : Google Scholar | |
Rentiya Z, Hutnik R, Mekkam YQ and Bae J: The pathophysiology and clinical manifestations of spinocerebellar ataxia type 6. Cerebellum. 19:459–464. 2020.PubMed/NCBI View Article : Google Scholar | |
Tamura I, Takei A, Hamada S, Nonaka M, Kurosaki Y and Moriwaka F: Cognitive dysfunction in patients with spinocerebellar ataxia type 6. J Neurol. 264:260–267. 2017.PubMed/NCBI View Article : Google Scholar | |
Suenaga M, Kawai Y, Watanabe H, Atsuta N, Ito M, Tanaka F, Katsuno M, Fukatsu H, Naganawa S and Sobue G: Cognitive impairment in spinocerebellar ataxia type 6. J Neurol Neurosur Psychiatry. 79:496–499. 2008. | |
Bour LJ, van Rootselaar AF, Koelman JH and Tijssen MA: Oculomotor abnormalities in myoclonic tremor: A comparison with spinocerebellar ataxia type 6. Brain. 131(Pt 9):2295–2303. 2008.PubMed/NCBI View Article : Google Scholar | |
Christova P, Anderson JH and Gomez CM: Impaired eye movements in presymptomatic spinocerebellar ataxia type 6. Arch Neurol. 65:530–536. 2008.PubMed/NCBI View Article : Google Scholar | |
Takeichi N, Fukushima K, Sasaki H, Yabe I, Tashiro K and Inuyama Y: Dissociation of smooth pursuit and vestibulo-ocular reflex cancellation in SCA-6. Neurology. 54:860–866. 2000.PubMed/NCBI View Article : Google Scholar | |
Ueno T, Nishizawa H, Suzuki C, Nunomura JI and Tomiyama M: Downbeat nystagmus as an initial clinical sign in spinocerebellar ataxia type 6. Neurol Sci. 38:1543–1545. 2017.PubMed/NCBI View Article : Google Scholar | |
Colen CB, Ketko A, George E and Van Stavern GP: Periodic alternating nystagmus and periodic alternating skew deviation in spinocerebellar ataxia type 6. J Neuroophthalmol. 28:287–288. 2008.PubMed/NCBI View Article : Google Scholar | |
Hashimoto T, Sasaki O, Yoshida K, Takei Y and Ikeda S: Periodic alternating nystagmus and rebound nystagmus in spinocerebellar ataxia type 6. Mov Disord. 18:1201–1204. 2003.PubMed/NCBI View Article : Google Scholar | |
Huh YE, Kim J, Kim H, Park S, Jeon BS, Kim J, Cho JW and Zee DS: Vestibular performance during high-acceleration stimuli correlates with clinical decline in SCA6. Cerebellum. 14:284–291. 2015.PubMed/NCBI View Article : Google Scholar | |
Lee SU, Kim JS, Kim HJ, Choi JY, Park JY, Kim JM and Yang X: Evolution of the vestibular function during head impulses in spinocerebellar ataxia type 6. J Neurol. 267:1672–1678. 2020.PubMed/NCBI View Article : Google Scholar | |
Benton CS, de Silva R, Rutledge SL, Bohlega S, Ashizawa T and Zoghbi HY: Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype. Neurology. 51:1081–1086. 1998.PubMed/NCBI View Article : Google Scholar | |
van de Warrenburg BP, Frenken CW, Ausems MG, Kleefstra T, Sinke RJ, Knoers NV and Kremer HP: Striking anticipation in spinocerebellar ataxia type 7: The infantile phenotype. J Neurol. 248:911–914. 2001.PubMed/NCBI View Article : Google Scholar | |
Rub U, Schols L, Paulson H, Auburger G, Kermer P, Jen JC, Seidel K, Korf HW and Deller T: Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7. Prog Neurobiol. 104:38–66. 2013.PubMed/NCBI View Article : Google Scholar | |
Martin J, Van Regemorter N, Del-Favero J, Lofgren A and Van Broeckhoven C: Spinocerebellar ataxia type 7 (SCA7)-correlations between phenotype and genotype in one large Belgian family. J Neurol Sci. 168:37–46. 1999.PubMed/NCBI View Article : Google Scholar | |
Horton LC, Frosch MP, Vangel MG, Weigel-DiFranco C, Berson EL and Schmahmann JD: Spinocerebellar ataxia type 7: Clinical course, phenotype-genotype correlations, and neuropathology. Cerebellum. 12:176–193. 2013.PubMed/NCBI View Article : Google Scholar | |
Hernandez-Castillo CR, Diaz R, Rezende TJR, Adanyeguh I, Harding IH, Mochel F and Fernandez-Ruiz J: Cervical spinal cord degeneration in spinocerebellar ataxia type 7. AJNR Am J Neuroradiol. 42:1735–1739. 2021.PubMed/NCBI View Article : Google Scholar | |
Azevedo PB, Rocha AG, Keim LMN, Lavinsky D, Furtado GV, De Mattos EP, Vargas FR, Leotti VB, Saraiva-Pereira ML and Jardim LB: Rede Neurogenetica. Ophthalmological and neurologic manifestations in pre-clinical and clinical phases of spinocerebellar ataxia type 7. Cerebellum. 18:388–396. 2019.PubMed/NCBI View Article : Google Scholar | |
Gouw LG, Kaplan CD, Haines JH, Digre KB, Rutledge SL, Matilla A, Leppert M, Zoghbi HY and Ptacek LJ: Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nat Genet. 10:89–93. 1995.PubMed/NCBI View Article : Google Scholar | |
Garden GA and La Spada AR: Molecular pathogenesis and cellular pathology of spinocerebellar ataxia type 7 neurodegeneration. Cerebellum. 7:138–149. 2008.PubMed/NCBI View Article : Google Scholar | |
Velázquez-Pérez L, Cerecedo-Zapata CM, Hernández-Hernández O, Martínez-Cruz E, Tapia-Guerrero YS, González-Piña R, Salas-Vargas J, Rodríguez-Labrada R, Gurrola-Betancourth R, Leyva-García N, et al: A comprehensive clinical and genetic study of a large Mexican population with spinocerebellar ataxia type 7. Neurogenetics. 16:11–21. 2015.PubMed/NCBI View Article : Google Scholar | |
Oh AK, Jacobson KM, Jen JC and Baloh RW: Slowing of voluntary and involuntary saccades: An early sign in spinocerebellar ataxia type 7. Ann Neurol. 49:801–804. 2001.PubMed/NCBI View Article : Google Scholar | |
Miller RC, Tewari A, Miller JA, Garbern J and Van Stavern GP: Neuro-ophthalmologic features of spinocerebellar ataxia type 7. J Neuroophthalmol. 29:180–186. 2009.PubMed/NCBI View Article : Google Scholar | |
Nakamura K, Jeong SY, Uchihara T, Anno M, Nagashima K, Nagashima T, Ikeda S, Tsuji S and Kanazawa I: SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum Mol Genet. 10:1441–1448. 2001.PubMed/NCBI View Article : Google Scholar | |
Toyoshima Y and Takahashi H: Spinocerebellar ataxia type 17 (SCA17). Adv Exp Med Biol. 1049:219–231. 2018.PubMed/NCBI View Article : Google Scholar | |
Rolfs A, Koeppen AH, Bauer I, Bauer P, Buhlmann S, Topka H, Schols L and Riess O: Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann Neurol. 54:367–375. 2003.PubMed/NCBI View Article : Google Scholar | |
Maltecca F, Filla A, Castaldo I, Coppola G, Fragassi NA, Carella M, Bruni A, Cocozza S, Casari G, Servadio A and De Michele G: Intergenerational instability and marked anticipation in SCA-17. Neurology. 61:1441–1443. 2003.PubMed/NCBI View Article : Google Scholar | |
Nethisinghe S, Lim WN, Ging H, Zeitlberger A, Abeti R, Pemble S, Sweeney MG, Labrum R, Cervera C, Houlden H, et al: Complexity of the genetics and clinical presentation of spinocerebellar ataxia 17. Front Cell Neurosci. 12(429)2018.PubMed/NCBI View Article : Google Scholar | |
Reetz K, Kleiman A, Klein C, Lencer R, Zuehlke C, Brockmann K, Rolfs A and Binkofski F: CAG repeats determine brain atrophy in spinocerebellar ataxia 17: A VBM study. PLoS One. 6(e15125)2011.PubMed/NCBI View Article : Google Scholar | |
Nielsen TT, Mardosiene S, Lokkegaard A, Stokholm J, Ehrenfels S, Bech S, Friberg L, Nielsen JK and Nielsen JE: Severe and rapidly progressing cognitive phenotype in a SCA17-family with only marginally expanded CAG/CAA repeats in the TATA-box binding protein gene: A case report. BMC Neurol. 12(73)2012.PubMed/NCBI View Article : Google Scholar | |
Kim JY, Kim SY, Kim JM, Kim YK, Yoon KY, Kim JY, Lee BC, Kim JS, Paek SH, Park SS, et al: Spinocerebellar ataxia type 17 mutation as a causative and susceptibility gene in parkinsonism. Neurology. 72:1385–1389. 2009.PubMed/NCBI View Article : Google Scholar | |
Stevanin G, Fujigasaki H, Lebre AS, Camuzat A, Jeannequin C, Dode C, Takahashi J, San C, Bellance R, Brice A and Durr A: Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes. Brain. 126(Pt 7):1599–1603. 2003.PubMed/NCBI View Article : Google Scholar | |
Hübner J, Sprenger A, Klein C, Hagenah J, Rambold H, Zühlke C, Kömpf D, Rolfs A, Kimmig H and Helmchen C: Eye movement abnormalities in spinocerebellar ataxia type 17 (SCA17). Neurology. 69:1160–1168. 2007.PubMed/NCBI View Article : Google Scholar | |
Mariotti C, Alpini D, Fancellu R, Soliveri P, Grisoli M, Ravaglia S, Lovati C, Fetoni V, Giaccone G, Castucci A, et al: Spinocerebellar ataxia type 17 (SCA17): Oculomotor phenotype and clinical characterization of 15 Italian patients. J Neurol. 254:1538–1546. 2007.PubMed/NCBI View Article : Google Scholar | |
Lee SU, Kim JS, Yoo D, Kim A, Kim HJ, Choi JY, Park JY, Jeong SH, Kim JM and Park KW: Ocular motor findings aid in differentiation of spinocerebellar ataxia type 17 from Huntington's disease. Cerebellum. 22:1–13. 2023.PubMed/NCBI View Article : Google Scholar | |
Migliaccio AA, Halmagyi GM, McGarvie LA and Cremer PD: Cerebellar ataxia with bilateral vestibulopathy: Description of a syndrome and its characteristic clinical sign. Brain. 127(Pt 2):280–293. 2004.PubMed/NCBI View Article : Google Scholar |