An international registry for neurodegeneration with brain iron accumulation

Orphanet Journal of Rare Diseases

Klaus A Kuhn²  Thomas Klopstock³  Thomas Kmiec¹  Boriana Büchner³  Florian Kohlmayer²  Ronald Lautenschlaeger²  Bernadette Kalman³ 

[1] Instytut Pomnik Centrum Zdrowia Dziecka, Klinika Neurologii I Epileptologii, Aleja Dzieci Polskich 20, Warszawa, 04-730, Poland;Institut für Medizinische Statistik und Epidemiologie, Klinikum Rechts der Isar der Technischen Universitaet, Ismaninger Str. 22, Munich, 81675, Germany;Friedrich-Baur-Institut, Dept. of Neurology, Ludwig-Maximilians-University Munich, Ziemssenstraße 1a, Munich, 80336, Germany

关键词: TIRCON;    NBIA;    Consortium;    Registry;    Iron;    Neurodegeneration;    Rare diseases;   

Others  :  864217
DOI  :  10.1186/1750-1172-7-66

 received in 2012-08-22, accepted in 2012-09-14,  发布年份 2012

【 摘 要 】

We report the development of an international registry for Neurodegeneration with Brain Iron Accumulation (NBIA), in the context of TIRCON (Treat Iron-Related Childhood-Onset Neurodegeneration), an EU-FP7 – funded project. This registry aims to combine scattered resources, integrate clinical and scientific knowledge, and generate a rich source for future research studies. This paper describes the content, architecture and future utility of the registry with the intent to capture as many NBIA patients as possible and to offer comprehensive information to the international scientific community.

【 授权许可】

   
2012 Kalman et al.; licensee BioMed Central Ltd.

【 参考文献 】

• [1]Gregory A, Hayflick SJ: Genetics of Neurodegeneration with Brain Iron Accumulation. Curr Neurol Neurosci Rep 2011, 11:254-261.
• [2]Hartig MB, Prokisch H, Meitinger T, Klopstock T: Pantothenate Kinase-Associated Neurodegeneration. Curr Drug Targets 2012, 13:1182-1189.
• [3]Kohlmayer FM, Lautenschläger RR, Wurst SHR, Klopstock T, Prokisch H, Meitinger T, Eckert C, Kuhn KA: Konzept für ein deutschlandweites Krankheitsnetz am Beispiel von mitoREGISTER. GI Lecture Notes in Informatics 2010, 2:746-751.