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J Pediatr Genet 2018; 07(01): 014-018
DOI: 10.1055/s-0037-1607341
Original Article
Georg Thieme Verlag KG Stuttgart · New York

Cathepsin D Polymorphism C224T in Childhood-Onset Neurodegenerative Disorders: No Impact for Childhood Dementia

Matthias Kettwig
1   Department of Pediatrics and Pediatric Neurology, University Medical Center Göttingen, Georg August University Göttingen, Göttingen, Germany
,
Andreas Ohlenbusch
1   Department of Pediatrics and Pediatric Neurology, University Medical Center Göttingen, Georg August University Göttingen, Göttingen, Germany
,
Klaus Jung
2   Department of Medical Statistics, University Medical Center Göttingen, Georg August University Göttingen, Göttingen, Germany
3   Intitute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Hannover, Germany
,
Robert Steinfeld
1   Department of Pediatrics and Pediatric Neurology, University Medical Center Göttingen, Georg August University Göttingen, Göttingen, Germany
,
Jutta Gärtner
1   Department of Pediatrics and Pediatric Neurology, University Medical Center Göttingen, Georg August University Göttingen, Göttingen, Germany
› Author Affiliations
Further Information

Publication History

24 July 2017

14 September 2017

Publication Date:
25 October 2017 (online)

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Abstract

Compromised lysosomal functioning has been identified as a major risk factor for neurodegenerative disorders such as Alzheimer's and Parkinson's diseases. Furthermore, the association between a defined cathepsin D (CTSD) polymorphism and a higher risk of sporadic Alzheimer's disease has been established for particular populations. Here, we analyzed 189 children with rare neurodegenerative disease for carrying the T-allele by polymerase chain reaction-restriction fragment length polymorphism. We found no statistical differences in genotype and allele frequencies between the neurodegenerative group and European descent participants of genetic studies using the Cochran–Armitage's trend test. In contrast to adult-onset neurodegenerative diseases, analysis of clinical datasets of children carrying the T-allele did not demonstrate differences to the general disease group.

Keywords

lysosomal dysfunction - childhood dementia - neurodegenerative disorders - cathepsin D polymorphism
 

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