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

Shaikh, Aasef G.; Manto, Mario

doi:10.1007/s12311-020-01128-4

Cited by 3 publications

(5 citation statements)

References 19 publications

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“… 29 In addition, mutations in the FGF14 gene cause episodic ataxia type 9 37 and spinocerebellar ataxia type 27 (SCA27). 28 FGF14-associated phenotypes also highlight the overlap between progressive and episodic ataxias, similar to those observed in mutations involving CACNA1A. 37 SCA27 is a typical childhood-onset disorder that presents with tremor, gait ataxia, parkinsonism, depression, and anger outbursts.…”

Section: Spontaneous Nystagmusmentioning

confidence: 80%

“…Genetic testing for infantile nystagmus 27 and DBN 28 29 may improve diagnoses. Implementing home-based vestibular event monitoring by patient-initiated capture of ictal nystagmus could help in detecting nystagmus during vertiginous attacks and in the differential diagnosis of three of the most commonly encountered causes of episodic vertigo: vestibular migraine (VM), Meniere's disease, and benign paroxysmal positional vertigo (BPPV).…”

Section: General Findingsmentioning

confidence: 99%

“…Despite its distinctive clinical features, the mechanisms of DBN remain to be elucidated. 28 A recent genome-wide association study found a significant association between DBN and variation in the fibroblast growth factor 14 (FGF14) gene located on chromosome 13. FGF14 is expressed in Purkinje cells (PCs), and its reduction leads to decreases in the spontaneous firing rate and excitability of PCs, which are compatible with the pathophysiology of DBN.…”

Section: Spontaneous Nystagmusmentioning

confidence: 99%

“…Given the genetic relationship between SCA27 and DBN, idiopathic DBN could be a late-onset and milder manifestation of SCA27. 28 While DBN is typically observed in dysfunction of the lower cerebellum, the association of DBN with motor neuron diseases indicates the need to look for neuromuscular disorders in patients with this type of nystagmus. 38 39 40 SCA38 is characterized by DBN, intermittent strabismus, and hearing loss in addition to gait ataxia, and is associated with lower total scores on the Scale for the Assessment and Rating of Ataxia (SARA) and higher levels of docosahexaenoic acid, which should also be validated for DBN.…”

Section: Spontaneous Nystagmusmentioning

confidence: 99%

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Update on Nystagmus and Other Ocular Oscillations

Jeong

Kim

2021

J Clin Neurol

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This review reports on recent advances in understanding nystagmus and other involuntary eye movements. Advances in quantitative evaluations of eye movements using oculography, computational model simulations, genetics, and imaging technologies have markedly improved our understanding of the pathophysiology of involuntary eye movements, as well as their diagnosis and management. Patient-initiated capture of eye movements, especially when paroxysmal, and the online transfer of these data to clinicians would further enhance the ability to diagnose involuntary eye movements.

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Section: Spontaneous Nystagmusmentioning

confidence: 80%

Section: General Findingsmentioning

confidence: 99%

Section: Spontaneous Nystagmusmentioning

confidence: 99%

Section: Spontaneous Nystagmusmentioning

confidence: 99%

See 2 more Smart Citations

Update on Nystagmus and Other Ocular Oscillations

Jeong

Kim

2021

J Clin Neurol

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show abstract

“…Its causes include Arnold Chiari malformation (ACM), cerebellar degeneration, stroke, lithium or drug poisoning, Meniere's disease, and vestibular neuritis (3)(4)(5)(6)(7). However, there is still a large proportion of DBN patients with unknown etiology, known as idiopathic DBN, with a proportion ranging from 25 to 65% (3,8,9). The pathophysiological basis of DBN still needs to be clarified.…”

Section: Introductionmentioning

confidence: 99%

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

Zhang,

Lang,

Wang

et al. 2024

Front. Neurol.

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ObjectiveTo investigate the topical diagnosis, possible etiology and mechanism of spontaneous downbeat nystagmus (sDBN) patients with dizziness/vertigo.MethodsThe clinical features of dizziness/vertigo patients accompanied with DBN were retrospectively reviewed in the Vertigo Center of our hospital from January 2018 to March 2021. The clinical features of dizziness/vertigo patients accompanied with DBN were reviewed. Comprehensive VNG, bithermal caloric testing, video-head-impulse test (vHIT), vestibular-evoked myogenic potentials (VEMP), head magnetic resonance imaging (MRI), three-dimensional fluid-attenuated incersion recovery magnetic resonance imaging (3D-FLAIR MRI) in the inner ear, serum immunology and other examinations were to determine the lesion site, and analyze its possible etiology and mechanism.ResultsA total of 54 patients were included. Among them, 70.4% (n = 38) of DBN patients were diagnosed with episodic vestibular syndrome (EVS), 22.2% (n = 12) with chronic vestibular syndrome (CVS), and 7.4% (n = 4) with acute vestibular syndrome (AVS). Among all the patients, 51.9% of DBN patients had clear etiology, with central lesions of 29.6% and peripheral diseases of 22.2%. The most common diseases in DBN patients were cerebellar lesions (13.0%, n = 7) and vestibular migraine (13.0%, n = 7), followed by benign positional paroxysmal vertigo (7.4%, n = 4) and drug-related dizziness/vertigo (5.6%, n = 3). The other 48.1% of the patients had unknown etiology. 53.8% (14/26) of patients with idiopathic DBN had decreased semicircular canal function, with 42.9% (6/14) decreased posterior semicircular canal function. The posterior semicircular canal gain in DBN patients decreased compared to the anterior semicircular canal in the same conjugate plane. Patients with peripheral DBN were more prone to horizontal/torsional nystagmus during positional testing.ConclusionIn our study, DBN patients have a relative decrease in posterior semicircular canal gain, which is possibly a particular result found in a subset of downbeat nystagmus patients. The changes in nystagmus during positional testing may be helpful in distinguishing between peripheral and central causes.

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Downbeat nystagmus: a clinical and pathophysiological review

Marcelli,

Giannoni,

Volpe

et al. 2024

Front. Neurol.

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Downbeat nystagmus (DBN) is a neuro-otological finding frequently encountered by clinicians dealing with patients with vertigo. Since DBN is a finding that should be understood because of central vestibular dysfunction, it is necessary to know how to frame it promptly to suggest the correct diagnostic-therapeutic pathway to the patient. As knowledge of its pathophysiology has progressed, the importance of this clinical sign has been increasingly understood. At the same time, clinical diagnostic knowledge has increased, and it has been recognized that this sign may occur sporadically or in association with others within defined clinical syndromes. Thus, in many cases, different therapeutic solutions have become possible. In our work, we have attempted to systematize current knowledge about the origin of this finding, the clinical presentation and current treatment options, to provide an overview that can be used at different levels, from the general practitioner to the specialist neurologist or neurotologist.

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

Cited by 3 publications

References 19 publications

Update on Nystagmus and Other Ocular Oscillations

Update on Nystagmus and Other Ocular Oscillations

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

Downbeat nystagmus: a clinical and pathophysiological review

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