Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F14%3A10293137" target="_blank" >RIV/00064203:_____/14:10293137 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/14:10293137

Result on the web

<a href="http://dx.doi.org/10.1016/j.nmd.2014.06.431" target="_blank" >http://dx.doi.org/10.1016/j.nmd.2014.06.431</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.nmd.2014.06.431" target="_blank" >10.1016/j.nmd.2014.06.431</a>

Result language

angličtina

Original language name

Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients

Original language description

This study evaluates primary and secondary clinical outcome measures in Charcot-Marie-Tooth disease type 1A (CMT1A) with regard to their contribution towards discrimination of disease severity. The nine components of the composite Charcot-Marie-Tooth disease Neuropathy Score and six additional secondary clinical outcome measures were assessed in 479 adult patients with genetically proven CMT1A and 126 healthy controls. Using hierarchical clustering, we identified four significant clusters of patients according to clinical severity. We then tested the impact of each of the CMTNS components and of the secondary clinical parameters with regard to their power to differentiate these four clusters. The CMTNS components ulnar sensory nerve action potential (SNAP), pin sensibility, vibration and strength of arms did not increase the discriminant value of the remaining five CMTNS components (Ulnar compound motor action potential [CMAP], leg motor symptoms, arm motor symptoms, leg strength and s

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FH - Neurology, neuro-surgery, nuero-sciences

OECD FORD branch

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Project

<a href="/en/project/NT14348" target="_blank" >NT14348: New generation sequencing and genotyping approaches of DNA analysis for effective and comprehensive molecular diagnostics of less common and novel types of hereditary neuropaties Charcot-Marie-Tooth.</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2014

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Neuromuscular Disorders

ISSN

0960-8966

e-ISSN

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Volume of the periodical

24

Issue of the periodical within the volume

11

Country of publishing house

US - UNITED STATES

Number of pages

15

Pages from-to

1003-1017

UT code for WoS article

000345733600011

EID of the result in the Scopus database

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