Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators
Open Access
- 22 February 2013
- journal article
- Published by Springer Science and Business Media LLC in Orphanet Journal of Rare Diseases
- Vol. 8 (1), 35
- https://doi.org/10.1186/1750-1172-8-35
Abstract
The neurodegenerative lysosomal storage disorder Niemann-Pick disease type C (NP-C) is characterized by a broad clinical variability involving neurological, psychiatric and systemic signs. Diverse patterns of disease manifestation and progression considerably delay its diagnosis. Here we introduce the NP-C clinical database (NPC-cdb) to systematically obtain, store and analyze diagnostic and clinical findings in patients with NP-C. We apply NPC-cdb to study NP-C temporal expression in a large German-Swiss patient cohort.Keywords
This publication has 25 references indexed in Scilit:
- Recommendations for the diagnosis and management of Niemann–Pick disease type C: An updateMolecular Genetics and Metabolism, 2012
- Development of a Suspicion Index to aid diagnosis of Niemann-Pick disease type CNeurology, 2012
- Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type COrphanet Journal of Rare Diseases, 2012
- Cholesterol Oxidation Products Are Sensitive and Specific Blood-Based Biomarkers for Niemann-Pick C1 DiseaseScience Translational Medicine, 2010
- Niemann-Pick disease type COrphanet Journal of Rare Diseases, 2010
- Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort studyMolecular Genetics and Metabolism, 2009
- Niemann–Pick disease type CClinical Genetics, 2003
- Identification of HE1 as the Second Gene of Niemann-Pick C DiseaseScience, 2000
- Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol HomeostasisScience, 1997
- Niemann‐Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification: A collaborative study on 70 patientsClinical Genetics, 1988