Nystagmus of Pelizaeus-Merzbacher Disease A Magnetic Search-Coil Study

Trobe, Jonathan D.; Sharpe, James; Hirsh, David K.; Gebarśki, Stephen S.

doi:10.1001/archneur.1991.00530130099026

Cited by 36 publications

(6 citation statements)

References 20 publications

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“…Concomitantly, as nystagmus occurs frequently in demyelinating pathologies 12 , 13 , 20 , we hypothesized that AhR-KO mice could present structural alterations of the myelin sheath. Electron-microscopy analyses of the optic nerves revealed a disorganization of the myelin sheath of AhR-KO mice (Fig.…”

Section: Resultsmentioning

confidence: 99%

“…In line with our study, TNF-alpha production is also significantly higher in AhR-deficient macrophages stimulated by the lipopolysacharride (LPS) 27 . Interestingly, an inflammation of the optic nerve, or optic neuritis, is often associated in humans with acquired demyelinating pathologies such as multiple sclerosis 26 or leukodystrophies 12 , in which the nystagmus serves as a symptomatic biomarker and usually signs an inflammatory state 14 .…”

Section: Discussionmentioning

confidence: 99%

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AhR-deficiency as a cause of demyelinating disease and inflammation

Juricek

Carcaud

Pelhaitre

et al. 2017

Sci Rep

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The Aryl hydrocarbon Receptor(AhR) is among the most important receptors which bind pollutants; however it also regulates signaling pathways independently of such exposure. We previously demonstrated that AhR is expressed during development of the central nervous system(CNS) and that its deletion leads to the occurrence of a congenital nystagmus. Objectives of the present study are to decipher the origin of these deficits, and to identify the role of the AhR in the development of the CNS. We show that the AhR-knockout phenotype develops during early infancy together with deficits in visual-information-processing which are associated with an altered optic nerve myelin sheath, which exhibits modifications in its lipid composition and in the expression of myelin-associated-glycoprotein(MAG), a cell adhesion molecule involved in myelin-maintenance and glia-axon interaction. In addition, we show that the expression of pro-inflammatory cytokines is increased in the impaired optic nerve and confirm that inflammation is causally related with an AhR-dependent decreased expression of MAG. Overall, our findings demonstrate the role of the AhR as a physiological regulator of myelination and inflammatory processes in the developing CNS. It identifies a mechanism by which environmental pollutants might influence CNS myelination and suggest AhR as a relevant drug target for demyelinating diseases.

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

AhR-deficiency as a cause of demyelinating disease and inflammation

Juricek

Carcaud

Pelhaitre

et al. 2017

Sci Rep

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“…[22, 23] The symptoms and neurological findings can range widely in severity, but classical findings include pendular nystagmus, hypotonia, spastic quadriparesis, ataxia titubation, and cognitive impairment. [24–27] [28, 29]…”

Section: Pelizaeus-merzbacher Diseasementioning

confidence: 99%

Acquired pendular nystagmus

Kang¹,

Shaikh²

2017

Journal of the Neurological Sciences

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Acquired pendular nystagmus is comprised of quasi-sinusoidal oscillations of the eyes significantly affecting gaze holding and clarity of vision. The most common causes of acquired pendular nystagmus include demyelinating disorders such as multiple sclerosis and the syndrome of ocular palatal tremor. However, several other deficits, such as pharmacological intoxication, metabolic and genetic disorders, and granulomatous disorders can lead to syndromes mimicking acquired pendular nystagmus. Study of the kinematic features of acquired pendular nystagmus has suggested a putative pathophysiology of an otherwise mysterious neurological disorder. Here we review clinical features of neurological deficits that co-occur with acquired pendular nystagmus. Subsequent discussion of the pathophysiology of individual forms of pendular nystagmus speculates on mechanisms of the underlying disease while providing insights into pharmacotherapy of nystagmus.

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“…Nystagmus was found in patients with PMD and PMD-like disorders. [ 26 ] The patients in our study with PMD and PMD-like disorders presented with infantile nystagmus.…”

Section: Discussionmentioning

confidence: 98%

Ophthalmologic findings in patients with neuro-metabolic disorders

Jafari¹,

Golnik²,

Shahriari³

et al. 2018

J Ophthalmic Vis Res

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Purpose: We aimed to present the ophthalmic manifestations of neuro-metabolic disorders. Methods: Patients who were diagnosed with neuro-metabolic disorders in the Neurology Department of Mofid Pediatric Hospital in Tehran, Iran, between 2004 and 2014 were included in this study. Disorders were confirmed using clinical findings, neuroimaging, laboratory data, and genomic analyses. All enrolled patients were assessed for ophthalmological abnormalities. Results: A total of 213 patients with 34 different neuro-metabolic disorders were included. Ophthalmological abnormalities were observed in 33.5% of patients. Abnormal findings in the anterior segment included Kayser-Fleischer rings, congenital or secondary cataracts, and lens dislocation into the anterior chamber. Posterior segment (i.e., retina, vitreous body, and optic nerve) evaluation revealed retinitis pigmentosa, cherry-red spots, and optic atrophy. In addition, strabismus, nystagmus, and lack of fixation were noted during external examination. Conclusion: Ophthalmological examination and assessment is essential in patients that may exhibit neuro-metabolic disorders.

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Nystagmus of Pelizaeus-Merzbacher Disease A Magnetic Search-Coil Study

Cited by 36 publications

References 20 publications

AhR-deficiency as a cause of demyelinating disease and inflammation

AhR-deficiency as a cause of demyelinating disease and inflammation

Acquired pendular nystagmus

Ophthalmologic findings in patients with neuro-metabolic disorders

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