{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,10]],"date-time":"2026-01-10T10:38:46Z","timestamp":1768041526107,"version":"3.49.0"},"reference-count":54,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2022,2,15]],"date-time":"2022-02-15T00:00:00Z","timestamp":1644883200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>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\u2019 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\u2019s 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.<\/jats:p>","DOI":"10.3390\/cells11040682","type":"journal-article","created":{"date-parts":[[2022,2,15]],"date-time":"2022-02-15T22:43:22Z","timestamp":1644965002000},"page":"682","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Central Nervous System Complications in Cystinosis: The Role of Neuroimaging"],"prefix":"10.3390","volume":"11","author":[{"given":"Aude","family":"Servais","sequence":"first","affiliation":[{"name":"Department of Nephrology and Transplantation, Centre de r\u00e9f\u00e9rence des Maladies R\u00e9nales H\u00e9r\u00e9ditaires de l\u2019Enfant et de l\u2019Adulte, Necker Hospital, AP-HP, 75015 Paris, France"},{"name":"INSERM U1163, Imagine Institute, Paris University, 75015 Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer","family":"Boisgontier","sequence":"additional","affiliation":[{"name":"INSERM U1163, Imagine Institute, Paris University, 75015 Paris, France"},{"name":"Paediatric Radiology Department, INSERM U1299, H\u00f4pital Necker Enfants Malades, AP-HP, 75015 Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Saitovitch","sequence":"additional","affiliation":[{"name":"INSERM U1163, Imagine Institute, Paris University, 75015 Paris, France"},{"name":"Paediatric Radiology Department, INSERM U1299, H\u00f4pital Necker Enfants Malades, AP-HP, 75015 Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aur\u00e9lie","family":"Hummel","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Transplantation, Centre de r\u00e9f\u00e9rence des Maladies R\u00e9nales H\u00e9r\u00e9ditaires de l\u2019Enfant et de l\u2019Adulte, Necker Hospital, AP-HP, 75015 Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathalie","family":"Boddaert","sequence":"additional","affiliation":[{"name":"INSERM U1163, Imagine Institute, Paris University, 75015 Paris, France"},{"name":"Paediatric Radiology Department, INSERM U1299, H\u00f4pital Necker Enfants Malades, AP-HP, 75015 Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,2,15]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"5940","DOI":"10.1093\/emboj\/20.21.5940","article-title":"Cystinosin, the protein defective in cystinosis, is a H(+)-driven lyso-somal cystine transporter","volume":"20","author":"Kalatzis","year":"2001","journal-title":"EMBO J."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1056\/NEJMra020552","article-title":"Cystinosis","volume":"347","author":"Gahl","year":"2002","journal-title":"N. 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