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Clinical prospective study on disease variability and score generation in patients with Charcot-Marie- Tooth disease type 1A (HMSN1A)

by Manoj Mannil
Doctoral thesis
Date of Examination:2014-10-08
Date of issue:2014-09-25
Advisor:Prof. Dr. Michael Werner Sereda
Referee:Prof. Dr. Jutta Gärtner
Referee:Prof. Dr. Reinhard Hilgers
crossref-logoPersistent Address: http://dx.doi.org/10.53846/goediss-4687

 

 

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Abstract

English

In this clinical prospective study primary and secondary clinical outcome measures in Charcot-Marie-Tooth disease type 1A (CMT1A) were evaluated with regard to their contribution towards discrimination of disease severity. The nine components of the composite Charcot-Marie-Tooth disease Neuropathy Score (Shy et al., 2005) and six additional secondary clinical outcome measures were assessed in a total subset of 479 adult patients with genetically proven CMT1A. Using hierarchical clustering, significant clusters of patients were formed. The impact of each of the CMTNS components and of the secondary clinical parameters were calculated with regard to their power to differentiate these two clusters. Five parameters of the original CMTNS and four secondary clinical outcome measures provide additional significant information in differentiation of the two clusters. From these findings, we derived three new composite measures as score hypotheses and compared their discriminant power with that of the originial CMTNS. As a conclusion, five items from the CMTNS and four secondary clinical outcome measures improve the clinical assessment of patients with CMT1A significantly and are beneficial for upcoming clinical and therapeutic trials.
Keywords: CMT1A, Charcot-Marie-Tooth, modified CMTNS, mod_CMTNS
Schlagwörter: CMT1A, Charcot-Marie-Tooth, modified CMTNS, mod_CMTNS
 

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