| Neurological impairment in nephropathic cystinosis: motor coordination deficits. | |
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MedLine Citation:
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PMID: 20652328 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Nephropathic cystinosis is a rare genetic metabolic disorder that results in accumulation of the amino acid cystine in lysosomes due to lack of a cystine-specific transporter protein. Cystine accumulates in cells throughout the body and causes progressive damage to multiple organs, including the brain. Neuromotor deficits have been qualitatively described in individuals with cystinosis. This study quantitatively examined fine-motor coordination in individuals with cystinosis. Brain magnetic resonance imaging (MRI) scans were also performed to determine whether structural changes were associated with motor deficits. Participants were 52 children and adolescents with infantile nephropathic cystinosis and 49 controls, ages 2-17 years, divided into preacademic and school-age groups. Results indicated that both the preacademic and school-age cystinosis groups performed significantly more poorly than their matched control groups on the Motor Coordination Test. Further, the level of performance was not significantly different between the preacademic and school-age groups. There were no significant differences in motor coordination scores based on MRI findings. This is the first study to document a persistent, nonprogressive, fine-motor coordination deficit in children and adolescents with cystinosis. The fact that these difficulties are present in the preschool years lends further support to the theory that cystinosis adversely affects neurological functioning early in development. The absence of a relationship between brain structural changes and motor function suggests that an alternative cause for motor dysfunction must be at work in this disorder. |
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Authors:
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Doris A Trauner; Jennifer Williams; Angela O Ballantyne; Amy M Spilkin; Jennifer Crowhurst; John Hesselink |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't Date: 2010-07-22 |
Journal Detail:
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Title: Pediatric nephrology (Berlin, Germany) Volume: 25 ISSN: 1432-198X ISO Abbreviation: Pediatr. Nephrol. Publication Date: 2010 Oct |
Date Detail:
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Created Date: 2010-08-19 Completed Date: 2010-12-02 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8708728 Medline TA: Pediatr Nephrol Country: Germany |
Other Details:
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Languages: eng Pagination: 2061-6 Citation Subset: IM |
Affiliation:
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Department of Neurosciences, University of California, San Diego, School of Medicine, and Rady Children's Hospital San Diego, San Diego, CA, USA. dtrauner@ucsd.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Brain / pathology* Brain Diseases / etiology, pathology Child Child, Preschool Female Humans Magnetic Resonance Imaging Male Motor Skills* Nephrotic Syndrome / complications, pathology Neuropsychological Tests |
| Grant Support | |
ID/Acronym/Agency:
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NS043135/NS/NINDS NIH HHS |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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