Eye movement changes in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

Vinciguerra, Claudia; Federighi, Pamela; Rosini, Francesca; Pretegiani, Elena; Cardaioli, Elena; Dotti, Maria Teresa; Sicurelli, Francesco; Federico, Antonio; Rufa, Alessandra

doi:10.1016/j.jns.2015.01.031

Cited by 4 publications

(3 citation statements)

References 12 publications

(18 reference statements)

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“…PEO is seen in Kearn‐Sayre's syndrome, Pearson's syndrome, and multiple disorders attributed to mitochondrial deletions or point mutations . In mitochondrial neurogastrointestinal encephalomyopathy, PEO is characterized by slow and hypometric saccades, particularly for saccades larger than 10 degrees, and abducting saccades are slower than adducting saccades . Central eye movement disorders are observed in patients with Leigh's syndrome (subacute necrotizing encephalomyelopathy).…”

Section: Inborn Errors Of Metabolism Associated With Ocular Motor Dismentioning

confidence: 99%

“…110 In mitochondrial neurogastrointestinal encephalomyopathy, PEO is characterized by slow and hypometric saccades, particularly for saccades larger than 10 degrees, and abducting saccades are slower than adducting saccades. 111 Central eye movement disorders are observed in patients with Leigh's syndrome (subacute necrotizing encephalomyelopathy). Patients with early-onset disease show disorders similar to those attributed to thiamine deficieny, including gaze-evoked nystagmus, impaired vestibular responses, internuclear ophthalmoplegia, and upbeat nystagmus switching to downbeat nystagmus during convergence.…”

Section: Energy Metabolism Disordersmentioning

confidence: 99%

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Eye movement disorders and neurological symptoms in late‐onset inborn errors of metabolism

et al. 2018

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Inborn errors of metabolism in adults are still largely unexplored. Despite the fact that adult‐onset phenotypes have been known for many years, little attention is given to these disorders in neurological practice. The adult‐onset presentation differs from childhood‐onset phenotypes, often leading to considerable diagnostic delay. The identification of these patients at the earliest stage of disease is important, given that early treatment may prevent or lessen further brain damage. Neurological and psychiatric symptoms occur more frequently in adult forms. Abnormalities of eye movements are also common and can be the presenting sign. Eye movement disorders can be classified as central or peripheral. Central forms are frequently observed in lysosomal storage disorders, whereas peripheral forms are a key feature of mitochondrial disease. Furthermore, oculogyric crisis is an important feature in disorders affecting dopamine syntheses or transport. Ocular motor disorders are often not reported by the patient, and abnormalities can be easily overlooked in a general examination. In adults with unexplained psychiatric and neurological symptoms, a special focus on examination of eye movements can serve as a relatively simple clinical tool to detect a metabolic disorder. Eye movements can be easily quantified and analyzed with video‐oculography, making them a valuable biomarker for following the natural course of disease or the response to therapies. Here, we review, for the first time, eye movement disorders that can occur in inborn errors of metabolism, with a focus on late‐onset forms. We provide a step‐by‐step overview that will help clinicians to examine and interpret eye movement disorders. © 2018 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.

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Section: Inborn Errors Of Metabolism Associated With Ocular Motor Dismentioning

confidence: 99%

Section: Energy Metabolism Disordersmentioning

confidence: 99%

Eye movement disorders and neurological symptoms in late‐onset inborn errors of metabolism

et al. 2018

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“…3 The course is invariably fatal, with mortality typically reported between 20 and 40 years of age. 2 Misdiagnosis is common early in the disease course before all clinical manifestations are apparent.…”

Section: Oy-stersmentioning

confidence: 99%