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Niemann-Pick type C (NPC) disease is a rare, usually fatal neurodegenerative lysosomal storage disorder. It is inherited in an autosomal-recessive fashion and caused by mutation of either NPC1 (95%) or NPC2 gene.1 Age at onset is broadly variable, ranging from neonatal fatal neurovisceral manifestations to a primarily neurodegenerative disease in adulthood that may be recognized as late as 70 years of age.1 Due to its diverse clinical manifestation, correct diagnosis is challenging, frequencies might be underestimated, and diagnosis may be delayed, in particular in patients with adult-onset disease. This is particularly momentous because a potential therapy for deceleration of disease progression is now available.2
Footnotes
Author contributions: Dr. Schicks: conceptualization of the study, acquisition of data, analysis of the data, drafting the manuscript. Dr. Müller vom Hagen: conceptualization of the study, acquisition of data, analysis of the data, revising the manuscript. Dr. Peter Bauer: acquisition of data, analysis and interpretation of the data, revising the manuscript. Dr. Beck-Wödl: acquisition of data, analysis and interpretation of the data, revising the manuscript. Dr. Biskup: acquisition of data, analysis and interpretation of the data, revising the manuscript. Dr. Krägeloh-Mann: acquisition of data, revising the manuscript. Dr. Schöls: conceptualization of the study, revising the manuscript. Dr. Synofzik: design and conceptualization of the study, acquisition of data, drafting and revising the manuscript.
Study funding: No targeted funding reported.
Disclosure: J. Schicks reports no disclosures. J. Müller vom Hagen received a travel grant by Actelion Pharmaceuticals Ltd. P. Bauer has received honoraria from Actelion Pharmaceuticals Ltd. S. Beck-Wödl and S. Biskup report no disclosures. I. Krägeloh-Mann was a member of the scientific board of the biopharmaceutical company ZYMENEX for a clinical trial I/II-study for enzyme replacement in MLD in 2007 and is currently a member of the scientific board of the biopharmaceutical company SHIRE for a worldwide clinical trial I/II study for intrathecal enzyme replacement in MLD. This did not imply any involvement or funding in the present study. L. Schöls received research grants of the Deutsche Forschungsgemeinschaft (SCHO754/4-1 and SCHO754/5-1), grants of the German Research Council (BMBF) to Leukonet (01GM0644) and mitoNET (01GM0864), and E-RARE grants to EUROSPA (01GM0807) and RISCA (01GM0820). He further received funding from the HSP-Selbsthilfegruppe Deutschland eV. M. Synofzik received a research grant by the Volkswagen Foundation, a travel grant by the Movement Disorders Society, and consulting fees from Actelion Pharmaceuticals Ltd. Although some of the authors received honoraria from Actelion Pharmaceuticals, this company was not involved in the idea, design, execution, analysis, or interpretation of the study, nor it did support this study in any other way. Go to Neurology.org for full disclosures.
Supplemental data at www.neurology.org
- Received August 28, 2012.
- Accepted October 22, 2012.
- © 2013 American Academy of Neurology
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