ArticleCortex; a journal devoted to the study of the nervous system and behavior2010
Developmental changes in cerebral white matter microstructure in a disorder of lysosomal storage.
Article in Cortex; a journal devoted to the study of the nervous system and behavior, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 44 citations in OpenAlex.
- Clinical practice recommendations for the diagnosis and management of nephropathic cystinosis.Nature reviews. Nephrology · 2026Review
- Long-term outcomes in nephropathic cystinosis: a review.Pediatric nephrology (Berlin, Germany) · 2026Review
- A behavioral and electrophysiological investigation of conflict monitoring in cystinosis (CTNS gene mutations) using the flanker paradigm.Frontiers in nephrology · 2026Article
- Review
- Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis.Orphanet journal of rare diseases · 2020Article
- Hierarchical processing of visual stimuli in nephropathic cystinosis.Journal of inherited metabolic disease · 2019Article
- Article
- Cystinosis: a review.Orphanet journal of rare diseases · 2016Review
- Management dilemmas in pediatric nephrology: Cystinosis.Pediatric nephrology (Berlin, Germany) · 2015Article
- Nephropathic cystinosis: an international consensus document.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2014Article
- Effect of age at treatment on cognitive performance in patients with cystinosis.The Journal of pediatrics · 2013Article
- Cognition in nephropathic cystinosis: pattern of expression in heterozygous carriers.American journal of medical genetics. Part A · 2012Article
- Brain white matter abnormalities in paediatric Gaucher Type I and Type III using diffusion tensor imaging.Journal of inherited metabolic disease · 2011Article
- Cystinosis: practical tools for diagnosis and treatment.Pediatric nephrology (Berlin, Germany) · 2011Review
- Neurocognitive functioning in school-aged cystinosis patients.Journal of inherited metabolic disease · 2010Article
- Neurological impairment in nephropathic cystinosis: motor coordination deficits.Pediatric nephrology (Berlin, Germany) · 2010Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
The goal of this work was to study white matter (WM) integrity in children with cystinosis, a rare lysosomal storage disorder resulting in cystine accumulation in peripheral and central nervous system tissue. Based on previous reports of cystine crystal formation in myelin precursors as well as evidence for specific cognitive deficits in visuospatial functioning, diffusion tensor imaging (DTI) was applied to 24 children with cystinosis (age 3-7 years) and to 24 typically developing age-matched controls. Scalar diffusion indices, fractional anisotropy (FA) and mean diffusivity (MD), were examined in manually defined regions of interest within the parietal and inferior temporal lobes. Diffusion indices were correlated with performance on measures of visuospatial cognition and with white blood cell cystine levels. Bilaterally decreased FA and increased MD were evident in the inferior and superior parietal lobules in children with cystinosis, with comparable FA and MD to controls in inferior temporal WM, and implicate a dissociation of the dorsal and ventral visual pathways. In older cystinosis children (age>5), diminutions in visuospatial performance were associated with reduced FA in the right inferior parietal lobule. In addition, increased MD was found in the presence of high cystine levels in all children with cystinosis. This study provides new information that the average diffusion properties in children with cystinosis deviate from typically developing children. Findings suggest the presence of early microstructural WM changes in addition to a secondary effect of cystine accumulation. These alterations may impact the development of efficient fiber networks important for visuospatial cognition.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.