Central Nervous System Complications in Cystinosis: The Role of Neuroimaging
Despite improvement in the specific treatment, clinical and anatomo-functional central nervous system (CNS) abnormalities of various severities are still observed in cystinosis patients. Patients who develop CNS complications today have a worse compliance to cysteamine treatment. Radiological studie...
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-02-01
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| Series: | Cells |
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| Online Access: | https://www.mdpi.com/2073-4409/11/4/682 |
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| author | Aude Servais Jennifer Boisgontier Ana Saitovitch Aurélie Hummel Nathalie Boddaert |
| author_facet | Aude Servais Jennifer Boisgontier Ana Saitovitch Aurélie Hummel Nathalie Boddaert |
| author_sort | Aude Servais |
| collection | DOAJ |
| description | Despite improvement in the specific treatment, clinical and anatomo-functional central nervous system (CNS) abnormalities of various severities are still observed in cystinosis patients. Patients who develop CNS complications today have a worse compliance to cysteamine treatment. Radiological studies have shown that cortical or central (ventriculomegaly) atrophy is observed in more than two thirds of cystinosis patients’ magnetic resonance imaging (MRI) and correlates with the intelligence quotient score. Half of cystinosis patients have marked aspecific white matter hyperintensities. The development of advanced neuroimaging techniques provides new tools to further investigate CNS complications. A recent neuroimaging study using a voxel-based morphometry approach showed that cystinosis patients present a decreased grey matter volume in the left middle frontal gyrus. Diffusion tensor imaging studies have shown white matter microstructure abnormalities in children and adults with cystinosis, respectively in areas of the dorsal visual pathway and within the corpus callosum’s body. Finally, leucocyte cystine levels are associated with decreased resting cerebral blood flow, measured by arterial spin labelling, in the frontal cortex, which could be associated with the neurocognitive deficits described in these patients. These results reinforce the relevance of neuroimaging studies to further understand the mechanisms that underline CNS impairments. |
| first_indexed | 2024-03-09T22:20:34Z |
| format | Article |
| id | doaj.art-d16d1daa2e81478696f79bdd356ec56b |
| institution | Directory Open Access Journal |
| issn | 2073-4409 |
| language | English |
| last_indexed | 2024-03-09T22:20:34Z |
| publishDate | 2022-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Cells |
| spelling | doaj.art-d16d1daa2e81478696f79bdd356ec56b2023-11-23T19:15:16ZengMDPI AGCells2073-44092022-02-0111468210.3390/cells11040682Central Nervous System Complications in Cystinosis: The Role of NeuroimagingAude Servais0Jennifer Boisgontier1Ana Saitovitch2Aurélie Hummel3Nathalie Boddaert4Department of Nephrology and Transplantation, Centre de référence des Maladies Rénales Héréditaires de l’Enfant et de l’Adulte, Necker Hospital, AP-HP, 75015 Paris, FranceINSERM U1163, Imagine Institute, Paris University, 75015 Paris, FranceINSERM U1163, Imagine Institute, Paris University, 75015 Paris, FranceDepartment of Nephrology and Transplantation, Centre de référence des Maladies Rénales Héréditaires de l’Enfant et de l’Adulte, Necker Hospital, AP-HP, 75015 Paris, FranceINSERM U1163, Imagine Institute, Paris University, 75015 Paris, FranceDespite improvement in the specific treatment, clinical and anatomo-functional central nervous system (CNS) abnormalities of various severities are still observed in cystinosis patients. Patients who develop CNS complications today have a worse compliance to cysteamine treatment. Radiological studies have shown that cortical or central (ventriculomegaly) atrophy is observed in more than two thirds of cystinosis patients’ magnetic resonance imaging (MRI) and correlates with the intelligence quotient score. Half of cystinosis patients have marked aspecific white matter hyperintensities. The development of advanced neuroimaging techniques provides new tools to further investigate CNS complications. A recent neuroimaging study using a voxel-based morphometry approach showed that cystinosis patients present a decreased grey matter volume in the left middle frontal gyrus. Diffusion tensor imaging studies have shown white matter microstructure abnormalities in children and adults with cystinosis, respectively in areas of the dorsal visual pathway and within the corpus callosum’s body. Finally, leucocyte cystine levels are associated with decreased resting cerebral blood flow, measured by arterial spin labelling, in the frontal cortex, which could be associated with the neurocognitive deficits described in these patients. These results reinforce the relevance of neuroimaging studies to further understand the mechanisms that underline CNS impairments.https://www.mdpi.com/2073-4409/11/4/682cystinosiscentral nervous systemcortical atrophyarterial spin labellingcysteaminecystine blood level |
| spellingShingle | Aude Servais Jennifer Boisgontier Ana Saitovitch Aurélie Hummel Nathalie Boddaert Central Nervous System Complications in Cystinosis: The Role of Neuroimaging Cells cystinosis central nervous system cortical atrophy arterial spin labelling cysteamine cystine blood level |
| title | Central Nervous System Complications in Cystinosis: The Role of Neuroimaging |
| title_full | Central Nervous System Complications in Cystinosis: The Role of Neuroimaging |
| title_fullStr | Central Nervous System Complications in Cystinosis: The Role of Neuroimaging |
| title_full_unstemmed | Central Nervous System Complications in Cystinosis: The Role of Neuroimaging |
| title_short | Central Nervous System Complications in Cystinosis: The Role of Neuroimaging |
| title_sort | central nervous system complications in cystinosis the role of neuroimaging |
| topic | cystinosis central nervous system cortical atrophy arterial spin labelling cysteamine cystine blood level |
| url | https://www.mdpi.com/2073-4409/11/4/682 |
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