Genome-Wide Association Study Points New Direction for Downbeat Nystagmus Research.

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作者信息

Shaikh Aasef G, Manto Mario

机构信息

Neurological Institute, University Hospitals Cleveland, Cleveland, OH, USA.

Department of Neurology, Case Western Reserve University, Cleveland, OH, USA.

出版信息

Cerebellum. 2020 Jun;19(3):345-347. doi: 10.1007/s12311-020-01128-4.

DOI:10.1007/s12311-020-01128-4

PMID:32253642

Abstract

摘要

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Genome-Wide Association Study Points New Direction for Downbeat Nystagmus Research.

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Congenital hereditary downbeat nystagmus.

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Exercise-induced downbeat nystagmus in a Korean family with a nonsense mutation in CACNA1A.

Neurol Sci. 2015 Aug;36(8):1393-6. doi: 10.1007/s10072-015-2157-6. Epub 2015 Mar 18.

Downbeat nystagmus with magnesium depletion.

Arch Neurol. 1981 Oct;38(10):650-2. doi: 10.1001/archneur.1981.00510100078014.

Role of clonazepam in the treatment of idiopathic downbeat nystagmus.

Laryngoscope. 2001 Aug;111(8):1490-3. doi: 10.1097/00005537-200108000-00029.

Episodic vertical oscillopsia and downbeat nystagmus in a Chiari malformation.

Arch Ophthalmol. 1984 May;102(5):723-5. doi: 10.1001/archopht.1984.01040030579023.

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Downbeat nystagmus: a clinical and pathophysiological review.

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Analysis of etiology and clinical features of spontaneous downbeat nystagmus: a retrospective study.

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Update on Nystagmus and Other Ocular Oscillations.

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本文引用的文献

What Is Behind Cerebellar Vertigo and Dizziness?

Cerebellum. 2019 Jun;18(3):320-332. doi: 10.1007/s12311-018-0992-8.

FGF14 is a regulator of KCNQ2/3 channels.

Proc Natl Acad Sci U S A. 2017 Jan 3;114(1):154-159. doi: 10.1073/pnas.1610158114. Epub 2016 Dec 19.

Perverted Head-Shaking and Positional Downbeat Nystagmus in Essential Tremor.

Cerebellum. 2016 Apr;15(2):152-8. doi: 10.1007/s12311-015-0683-7.

Intracellular FGF14 (iFGF14) Is Required for Spontaneous and Evoked Firing in Cerebellar Purkinje Neurons and for Motor Coordination and Balance.

J Neurosci. 2015 Apr 29;35(17):6752-69. doi: 10.1523/JNEUROSCI.2663-14.2015.

FGF14 localization and organization of the axon initial segment.

Mol Cell Neurosci. 2013 Sep;56:393-403. doi: 10.1016/j.mcn.2013.07.008. Epub 2013 Jul 26.

FGF14 regulates presynaptic Ca2+ channels and synaptic transmission.

Cell Rep. 2013 Jul 11;4(1):66-75. doi: 10.1016/j.celrep.2013.06.012. Epub 2013 Jul 3.

Spinocerebellar ataxia type 27 (SCA27) is an uncommon cause of dominant ataxia among Chinese Han population.

Neurosci Lett. 2012 Jun 27;520(1):16-9. doi: 10.1016/j.neulet.2012.05.008. Epub 2012 May 11.

Spinocerebellar ataxias type 27 derived from a disruption of the fibroblast growth factor 14 gene with mimicking phenotype of paroxysmal non-kinesigenic dyskinesia.

Brain Dev. 2012 Mar;34(3):230-3. doi: 10.1016/j.braindev.2011.04.014. Epub 2011 May 19.

Folate regulation of axonal regeneration in the rodent central nervous system through DNA methylation.

J Clin Invest. 2010 May;120(5):1603-16. doi: 10.1172/JCI40000. Epub 2010 Apr 26.

SCA27 caused by a chromosome translocation: further delineation of the phenotype.

Neurogenetics. 2009 Oct;10(4):371-4. doi: 10.1007/s10048-009-0197-x. Epub 2009 May 27.

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相似文献

Genome-Wide Association Study Points New Direction for Downbeat Nystagmus Research.

Cerebellum. 2020 Jun;19(3):345-347. doi: 10.1007/s12311-020-01128-4.

A Variation in FGF14 Is Associated with Downbeat Nystagmus in a Genome-Wide Association Study.

Cerebellum. 2020 Jun;19(3):348-357. doi: 10.1007/s12311-020-01113-x.

Spontaneous downbeat nystagmus in two sisters with sudanophilic leukodystrophy.

Auris Nasus Larynx. 1986;13 Suppl 2:S131-8. doi: 10.1016/s0385-8146(86)80066-9.

Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: a case report.

Brain Dev. 2015 Feb;37(2):270-2. doi: 10.1016/j.braindev.2014.04.010. Epub 2014 May 5.

Congenital hereditary downbeat nystagmus.

Can J Ophthalmol. 1983 Dec;18(7):344-8.

Congenital downbeat nystagmus.

J Pediatr Ophthalmol Strabismus. 1996 May-Jun;33(3):191-3. doi: 10.3928/0191-3913-19960501-15.

Exercise-induced downbeat nystagmus in a Korean family with a nonsense mutation in CACNA1A.

Neurol Sci. 2015 Aug;36(8):1393-6. doi: 10.1007/s10072-015-2157-6. Epub 2015 Mar 18.

Downbeat nystagmus with magnesium depletion.

Arch Neurol. 1981 Oct;38(10):650-2. doi: 10.1001/archneur.1981.00510100078014.

Role of clonazepam in the treatment of idiopathic downbeat nystagmus.

Laryngoscope. 2001 Aug;111(8):1490-3. doi: 10.1097/00005537-200108000-00029.

Episodic vertical oscillopsia and downbeat nystagmus in a Chiari malformation.

Arch Ophthalmol. 1984 May;102(5):723-5. doi: 10.1001/archopht.1984.01040030579023.

引用本文的文献

Downbeat nystagmus: a clinical and pathophysiological review.

Front Neurol. 2024 May 24;15:1394859. doi: 10.3389/fneur.2024.1394859. eCollection 2024.

Analysis of etiology and clinical features of spontaneous downbeat nystagmus: a retrospective study.

Front Neurol. 2024 Feb 1;15:1326879. doi: 10.3389/fneur.2024.1326879. eCollection 2024.

Update on Nystagmus and Other Ocular Oscillations.

J Clin Neurol. 2021 Jul;17(3):337-343. doi: 10.3988/jcn.2021.17.3.337.

本文引用的文献

What Is Behind Cerebellar Vertigo and Dizziness?

Cerebellum. 2019 Jun;18(3):320-332. doi: 10.1007/s12311-018-0992-8.

FGF14 is a regulator of KCNQ2/3 channels.

Proc Natl Acad Sci U S A. 2017 Jan 3;114(1):154-159. doi: 10.1073/pnas.1610158114. Epub 2016 Dec 19.

Perverted Head-Shaking and Positional Downbeat Nystagmus in Essential Tremor.

Cerebellum. 2016 Apr;15(2):152-8. doi: 10.1007/s12311-015-0683-7.

Intracellular FGF14 (iFGF14) Is Required for Spontaneous and Evoked Firing in Cerebellar Purkinje Neurons and for Motor Coordination and Balance.

J Neurosci. 2015 Apr 29;35(17):6752-69. doi: 10.1523/JNEUROSCI.2663-14.2015.

FGF14 localization and organization of the axon initial segment.

Mol Cell Neurosci. 2013 Sep;56:393-403. doi: 10.1016/j.mcn.2013.07.008. Epub 2013 Jul 26.

FGF14 regulates presynaptic Ca2+ channels and synaptic transmission.

Cell Rep. 2013 Jul 11;4(1):66-75. doi: 10.1016/j.celrep.2013.06.012. Epub 2013 Jul 3.

Spinocerebellar ataxia type 27 (SCA27) is an uncommon cause of dominant ataxia among Chinese Han population.

Neurosci Lett. 2012 Jun 27;520(1):16-9. doi: 10.1016/j.neulet.2012.05.008. Epub 2012 May 11.

Spinocerebellar ataxias type 27 derived from a disruption of the fibroblast growth factor 14 gene with mimicking phenotype of paroxysmal non-kinesigenic dyskinesia.

Brain Dev. 2012 Mar;34(3):230-3. doi: 10.1016/j.braindev.2011.04.014. Epub 2011 May 19.

Folate regulation of axonal regeneration in the rodent central nervous system through DNA methylation.

J Clin Invest. 2010 May;120(5):1603-16. doi: 10.1172/JCI40000. Epub 2010 Apr 26.

SCA27 caused by a chromosome translocation: further delineation of the phenotype.

Neurogenetics. 2009 Oct;10(4):371-4. doi: 10.1007/s10048-009-0197-x. Epub 2009 May 27.