Eye movement disorders and neurological symptoms in late-onset inborn errors of metabolism
(2018) In Movement Disorders 33(12). p.1844-1856- Abstract
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... (More)
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.
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- author
- Koens, Lisette H. ; Tijssen, Marina A.J. ; Lange, Fiete ; Wolffenbuttel, Bruce H.R. ; Rufa, Alessandra ; Zee, David S. and de Koning, Tom J. LU
- publishing date
- 2018-12
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- adult-onset, eye movement disorders, inborn errors of metabolism, movement disorders
- in
- Movement Disorders
- volume
- 33
- issue
- 12
- pages
- 1844 - 1856
- publisher
- John Wiley & Sons Inc.
- external identifiers
-
- pmid:30485556
- scopus:85057549607
- ISSN
- 0885-3185
- DOI
- 10.1002/mds.27484
- language
- English
- LU publication?
- no
- id
- 58fb01db-4f5b-4962-baa3-c531f5bcd244
- date added to LUP
- 2020-02-11 12:38:18
- date last changed
- 2024-06-27 13:35:57
@article{58fb01db-4f5b-4962-baa3-c531f5bcd244,
abstract = {{<p>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.</p>}},
author = {{Koens, Lisette H. and Tijssen, Marina A.J. and Lange, Fiete and Wolffenbuttel, Bruce H.R. and Rufa, Alessandra and Zee, David S. and de Koning, Tom J.}},
issn = {{0885-3185}},
keywords = {{adult-onset; eye movement disorders; inborn errors of metabolism; movement disorders}},
language = {{eng}},
number = {{12}},
pages = {{1844--1856}},
publisher = {{John Wiley & Sons Inc.}},
series = {{Movement Disorders}},
title = {{Eye movement disorders and neurological symptoms in late-onset inborn errors of metabolism}},
url = {{http://dx.doi.org/10.1002/mds.27484}},
doi = {{10.1002/mds.27484}},
volume = {{33}},
year = {{2018}},
}