Event-related potential (ERP) evidence for visual processing differences in children and adults with cystinosis (CTNS gene mutations)
Abstract Background Cystinosis, a rare lysosomal storage disease caused by mutations in the CTNS gene, is characterized by cystine crystallization and accumulation within multiple tissues, including kidney and brain. Its impact on neural function appears mild relative to its effects on other organs...
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| Format: | Article |
| Language: | English |
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BMC
2023-12-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-023-02985-y |
| _version_ | 1797388063765168128 |
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| author | Douwe J. Horsthuis Sophie Molholm John J. Foxe Ana A. Francisco |
| author_facet | Douwe J. Horsthuis Sophie Molholm John J. Foxe Ana A. Francisco |
| author_sort | Douwe J. Horsthuis |
| collection | DOAJ |
| description | Abstract Background Cystinosis, a rare lysosomal storage disease caused by mutations in the CTNS gene, is characterized by cystine crystallization and accumulation within multiple tissues, including kidney and brain. Its impact on neural function appears mild relative to its effects on other organs during early disease, but since therapeutic advances have led to substantially increased life expectancy, neurological implications are of increasing interest, necessitating deeper understanding of the impact of cystinosis on neurocognitive function. Behavioral difficulties have been reported in cystinosis in the visual domain. Very little is known, however, about how the brains of people living with cystinosis process visual information. This is especially interesting given that cystine accumulation in the cornea and posterior ocular structures is a hallmark of cystinosis. Methods Here, high-density scalp electrophysiology was recorded to visual stimuli (during a Go/No-Go task) to investigate visual processing in individuals with cystinosis, compared to age-matched controls. Analyses focused on early stages of cortical visual processing. Results The groups differed in their initial cortical response, with individuals with cystinosis exhibiting a significantly larger visual evoked potential (VEP) in the 130–150 ms time window. The groups also differed in the associations between neural responses and verbal abilities: While controls with higher IQ scores presented larger neural responses, that relationship was not observed in cystinosis. Conclusions The enlarged VEP in cystinosis could be the result of cortical hyperexcitability and/or differences in attentional engagement and explain, at least partially, the visual and visual-spatial difficulties described in this population. |
| first_indexed | 2024-03-08T22:35:20Z |
| format | Article |
| id | doaj.art-683fec89e70a4cc6b8071beb29388046 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-03-08T22:35:20Z |
| publishDate | 2023-12-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-683fec89e70a4cc6b8071beb293880462023-12-17T12:29:46ZengBMCOrphanet Journal of Rare Diseases1750-11722023-12-011811810.1186/s13023-023-02985-yEvent-related potential (ERP) evidence for visual processing differences in children and adults with cystinosis (CTNS gene mutations)Douwe J. Horsthuis0Sophie Molholm1John J. Foxe2Ana A. Francisco3The Cognitive Neurophysiology Laboratory, Department of Pediatrics, Albert Einstein College of MedicineThe Cognitive Neurophysiology Laboratory, Department of Pediatrics, Albert Einstein College of MedicineThe Cognitive Neurophysiology Laboratory, Department of Pediatrics, Albert Einstein College of MedicineThe Cognitive Neurophysiology Laboratory, Department of Pediatrics, Albert Einstein College of MedicineAbstract Background Cystinosis, a rare lysosomal storage disease caused by mutations in the CTNS gene, is characterized by cystine crystallization and accumulation within multiple tissues, including kidney and brain. Its impact on neural function appears mild relative to its effects on other organs during early disease, but since therapeutic advances have led to substantially increased life expectancy, neurological implications are of increasing interest, necessitating deeper understanding of the impact of cystinosis on neurocognitive function. Behavioral difficulties have been reported in cystinosis in the visual domain. Very little is known, however, about how the brains of people living with cystinosis process visual information. This is especially interesting given that cystine accumulation in the cornea and posterior ocular structures is a hallmark of cystinosis. Methods Here, high-density scalp electrophysiology was recorded to visual stimuli (during a Go/No-Go task) to investigate visual processing in individuals with cystinosis, compared to age-matched controls. Analyses focused on early stages of cortical visual processing. Results The groups differed in their initial cortical response, with individuals with cystinosis exhibiting a significantly larger visual evoked potential (VEP) in the 130–150 ms time window. The groups also differed in the associations between neural responses and verbal abilities: While controls with higher IQ scores presented larger neural responses, that relationship was not observed in cystinosis. Conclusions The enlarged VEP in cystinosis could be the result of cortical hyperexcitability and/or differences in attentional engagement and explain, at least partially, the visual and visual-spatial difficulties described in this population.https://doi.org/10.1186/s13023-023-02985-yEEGVisual evoked potentialP1Copy number variationLysosomal storage disorder |
| spellingShingle | Douwe J. Horsthuis Sophie Molholm John J. Foxe Ana A. Francisco Event-related potential (ERP) evidence for visual processing differences in children and adults with cystinosis (CTNS gene mutations) Orphanet Journal of Rare Diseases EEG Visual evoked potential P1 Copy number variation Lysosomal storage disorder |
| title | Event-related potential (ERP) evidence for visual processing differences in children and adults with cystinosis (CTNS gene mutations) |
| title_full | Event-related potential (ERP) evidence for visual processing differences in children and adults with cystinosis (CTNS gene mutations) |
| title_fullStr | Event-related potential (ERP) evidence for visual processing differences in children and adults with cystinosis (CTNS gene mutations) |
| title_full_unstemmed | Event-related potential (ERP) evidence for visual processing differences in children and adults with cystinosis (CTNS gene mutations) |
| title_short | Event-related potential (ERP) evidence for visual processing differences in children and adults with cystinosis (CTNS gene mutations) |
| title_sort | event related potential erp evidence for visual processing differences in children and adults with cystinosis ctns gene mutations |
| topic | EEG Visual evoked potential P1 Copy number variation Lysosomal storage disorder |
| url | https://doi.org/10.1186/s13023-023-02985-y |
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