Neurological impairment in nephropathic cystinosis: motor coordination deficits.

Pediatric Nephrology : Journal of the International Pediatric Nephrology Association
D A TraunerJohn R Hesselink

Abstract

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-moto...Continue Reading

References

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Citations

Mar 30, 2013·Cognitive and Behavioral Neurology : Official Journal of the Society for Behavioral and Cognitive Neurology·Angela O BallantyneDoris A Trauner
Aug 13, 2015·The Journal of Pediatrics·Kavya I RaoDoris A Trauner
Mar 7, 2013·The Journal of Pediatrics·Lisa Viltz, Doris A Trauner
Dec 19, 2016·Nature Reviews. Nephrology·Stephanie Cherqui, Pierre J Courtoy
Jan 21, 2017·Current Opinion in Pediatrics·Koenraad R VeysElena Levtchenko
Aug 25, 2019·Journal of Inherited Metabolic Disease·Aude ServaisNathalie Boddaert
Feb 28, 2020·Orphanet Journal of Rare Diseases·Aurore CurieAurélia Bertholet-Thomas
Mar 22, 2020·Journal of the American Society of Nephrology : JASN·Jennifer A HollywoodTeresa M Holm

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