Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study

@inproceedings{CastroOrs2017AssessmentOP,
  title={Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study},
  author={Isabel de Castro-Or{\'o}s and Pilar Ir{\'u}n and Jorge Javier Cebolla and V{\'i}ctor Rodriguez-Sureda and Miguel Mall{\'e}n and Mar{\'i}a Jes{\'u}s Pueyo and Pilar Mozas and Carmen Dom{\'i}nguez and Miguel Pocovi},
  booktitle={Journal of Translational Medicine},
  year={2017}
}
Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes. The diagnosis of NP-C remains challenging due to the non-specific, heterogeneous nature of signs/symptoms. This study assessed the utility of plasma chitotriosidase (ChT) and Chemokine (C–C motif) ligand 18 (CCL18)/pulmonary and activation-regulated chemokine (PARC) in conjunction with the NP-C suspicion index (NP-C SI) for guiding confirmatory… CONTINUE READING

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Niemann - Pick disease type C ( NP - C ) is a rare , autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes .
Niemann - Pick disease type C ( NP - C ) is a rare , autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes .
Niemann - Pick disease type C ( NP - C ) is a rare , autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes .
Niemann - Pick disease type C ( NP - C ) is a rare , autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes .
Niemann - Pick disease type C ( NP - C ) is a rare , autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes .
Niemann - Pick disease type C ( NP - C ) is a rare , autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes .
Niemann - Pick disease type C ( NP - C ) is a rare , autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes .
Based on findings in Period 1 , plasma ChT and CCL18/PARC , and NP - C SI prediction scores were determined in a second group of patients between May 2012 and Apr 2014 ( Period 2 ) , and NPC1 and NPC2 were sequenced only in those with elevated ChT and/or elevated CCL18/PARC and/or NP - C SI ≥70 .
Niemann - Pick disease type C ( NP - C ) is a rare , autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes .
Niemann - Pick disease type C ( NP - C ) is a rare , autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes .
Niemann - Pick disease type C ( NP - C ) is a rare , autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes .
Niemann - Pick disease type C ( NP - C ) is a rare , autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes .
Based on findings in Period 1 , plasma ChT and CCL18/PARC , and NP - C SI prediction scores were determined in a second group of patients between May 2012 and Apr 2014 ( Period 2 ) , and NPC1 and NPC2 were sequenced only in those with elevated ChT and/or elevated CCL18/PARC and/or NP - C SI ≥70 .
Niemann - Pick disease type C ( NP - C ) is a rare , autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes .
Niemann - Pick disease type C ( NP - C ) is a rare , autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes .
Niemann - Pick disease type C ( NP - C ) is a rare , autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes .
Based on findings in Period 1 , plasma ChT and CCL18/PARC , and NP - C SI prediction scores were determined in a second group of patients between May 2012 and Apr 2014 ( Period 2 ) , and NPC1 and NPC2 were sequenced only in those with elevated ChT and/or elevated CCL18/PARC and/or NP - C SI ≥70 .
Niemann - Pick disease type C ( NP - C ) is a rare , autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes .
Niemann - Pick disease type C ( NP - C ) is a rare , autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes .
Niemann - Pick disease type C ( NP - C ) is a rare , autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes .
Niemann - Pick disease type C ( NP - C ) is a rare , autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes .
Niemann - Pick disease type C ( NP - C ) is a rare , autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes .
Niemann - Pick disease type C ( NP - C ) is a rare , autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes .
Niemann - Pick disease type C ( NP - C ) is a rare , autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes .
Niemann - Pick disease type C ( NP - C ) is a rare , autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes .
Niemann - Pick disease type C ( NP - C ) is a rare , autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes .
Based on findings in Period 1 , plasma ChT and CCL18/PARC , and NP - C SI prediction scores were determined in a second group of patients between May 2012 and Apr 2014 ( Period 2 ) , and NPC1 and NPC2 were sequenced only in those with elevated ChT and/or elevated CCL18/PARC and/or NP - C SI ≥70 .
Based on findings in Period 1 , plasma ChT and CCL18/PARC , and NP - C SI prediction scores were determined in a second group of patients between May 2012 and Apr 2014 ( Period 2 ) , and NPC1 and NPC2 were sequenced only in those with elevated ChT and/or elevated CCL18/PARC and/or NP - C SI ≥70 .
Niemann - Pick disease type C ( NP - C ) is a rare , autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes .
Niemann - Pick disease type C ( NP - C ) is a rare , autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes .
Niemann - Pick disease type C ( NP - C ) is a rare , autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes .
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