PMID- 25085517
OWN - NLM
STAT- MEDLINE
DCOM- 20150720
LR  - 20220129
IS  - 1873-2364 (Electronic)
IS  - 0960-8966 (Linking)
VI  - 24
IP  - 11
DP  - 2014 Nov
TI  - 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.
PG  - 1003-17
LID - S0960-8966(14)00582-3 [pii]
LID - 10.1016/j.nmd.2014.06.431 [doi]
AB  - 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 
      sensory symptoms). However, three of the six additional clinical outcome measures 
      - the 10m-timed walking test (T10MW), 9 hole-peg test (9HPT), and foot dorsal 
      flexion dynamometry - further improved discrimination between severely and mildly 
      affected patients. From these findings, we identified three different composite 
      measures as score hypotheses and compared their discriminant power with that of 
      the CMTNS. A composite of eight components CMAP, Motor symptoms legs, Motor 
      symptoms arms, Strength of Legs, Sensory symptoms), displayed the strongest power 
      to discriminate between the clusters. As a conclusion, five items from the CMTNS 
      and three secondary clinical outcome measures improve the clinical assessment of 
      patients with CMT1A significantly and are beneficial for upcoming clinical and 
      therapeutic trials.
CI  - Copyright (c) 2014 Elsevier B.V. All rights reserved.
FAU - Mannil, Manoj
AU  - Mannil M
AD  - Research Group "Molecular and Translational Neurology", Department of 
      Neurogenetics, Max Planck Institute of Experimental Medicine, Gottingen, Germany.
FAU - Solari, Alessandra
AU  - Solari A
AD  - Unit of Neuroepidemiology, IRCCS Foundation, C. Besta Neurological Institute, 
      Milan, Italy.
FAU - Leha, Andreas
AU  - Leha A
AD  - Department of Medical Statistics, University Medical Center Gottingen, Gottingen, 
      Germany.
FAU - Pelayo-Negro, Ana L
AU  - Pelayo-Negro AL
AD  - Service of Neurology, University Hospital "Marques de Valdecilla (IDIVAL)", UC 
      and CIBERNED, Santander, Spain.
FAU - Berciano, Jose
AU  - Berciano J
AD  - Service of Neurology, University Hospital "Marques de Valdecilla (IDIVAL)", UC 
      and CIBERNED, Santander, Spain.
FAU - Schlotter-Weigel, Beate
AU  - Schlotter-Weigel B
AD  - Friedrich-Baur-Institute, Department of Neurology, 
      Ludwig-Maximilians-Universitat, Munich, Germany.
FAU - Walter, Maggie C
AU  - Walter MC
AD  - Friedrich-Baur-Institute, Department of Neurology, 
      Ludwig-Maximilians-Universitat, Munich, Germany.
FAU - Rautenstrauss, Bernd
AU  - Rautenstrauss B
AD  - Medizinisch Genetisches Zentrum, Munich, Germany.
FAU - Schnizer, Tuuli J
AU  - Schnizer TJ
AD  - Research Group "Molecular and Translational Neurology", Department of 
      Neurogenetics, Max Planck Institute of Experimental Medicine, Gottingen, Germany.
FAU - Schenone, Angelo
AU  - Schenone A
AD  - Department of Neurology, Ophthalmology and Genetics, University of Genoa, and 
      IRRCS San Martino-IST, Genoa, Italy.
FAU - Seeman, Pavel
AU  - Seeman P
AD  - Charles University in Prague, 2nd Medical School and University Hospital Motol, 
      Prague, Czech Republic.
FAU - Kadian, Chandini
AU  - Kadian C
AD  - Department of Biochemistry, University of Zurich, Zurich, Switzerland.
FAU - Schreiber, Olivia
AU  - Schreiber O
AD  - Friedrich-Baur-Institute, Department of Neurology, 
      Ludwig-Maximilians-Universitat, Munich, Germany.
FAU - Angarita, Natalia G
AU  - Angarita NG
AD  - Friedrich-Baur-Institute, Department of Neurology, 
      Ludwig-Maximilians-Universitat, Munich, Germany.
FAU - Fabrizi, Gian Maria
AU  - Fabrizi GM
AD  - Department of Neurological, Neuropsychological, Morphological and Motor Sciences, 
      University of Verona, Verona, Italy.
FAU - Gemignani, Franco
AU  - Gemignani F
AD  - Department of Neurosciences, University of Parma, Parma, Italy.
FAU - Padua, Luca
AU  - Padua L
AD  - Catholic University, Department of Neurosciences and Don Gnocchi Foundation, 
      Rome, Italy.
FAU - Santoro, Lucio
AU  - Santoro L
AD  - Department of Neurological Sciences, Naples, Italy.
FAU - Quattrone, Aldo
AU  - Quattrone A
AD  - Magna Graecia University, Neurology Clinic, and Neuroimaging Research Unit, 
      National Research Council, Catanzaro, Italy.
FAU - Vita, Giuseppe
AU  - Vita G
AD  - Department of Neurosciences, University of Messina, and Clinical Centre NEMO SUD, 
      Fondazione Aurora Onlus, Messina, Italy.
FAU - Calabrese, Daniela
AU  - Calabrese D
AD  - Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of 
      Clinical Neurosciences, IRCCS Foundation, C. Besta Neurological Institute, Milan, 
      Italy.
CN  - CMT-TRIAAL/CMT-TRAUK Group
FAU - Young, Peter
AU  - Young P
AD  - Department of Sleep Medicine and Neuromuscular Disorders, University of Munster, 
      Munster, Germany.
FAU - Laura, Matilde
AU  - Laura M
AD  - MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, National 
      Hospital for Neurology, Queen Square, London WC1N 3BG, UK.
FAU - Haberlova, Jana
AU  - Haberlova J
AD  - Charles University in Prague, 2nd Medical School and University Hospital Motol, 
      Prague, Czech Republic.
FAU - Mazanec, Radim
AU  - Mazanec R
AD  - Charles University in Prague, 2nd Medical School and University Hospital Motol, 
      Prague, Czech Republic.
FAU - Paulus, Walter
AU  - Paulus W
AD  - Department of Clinical Neurophysiology, University Medical Center Gottingen, 
      Gottingen, Germany.
FAU - Beissbarth, Tim
AU  - Beissbarth T
AD  - Department of Medical Statistics, University Medical Center Gottingen, Gottingen, 
      Germany.
FAU - Shy, Michael E
AU  - Shy ME
AD  - Department of Neurology, Carver College of Medicine, University of Iowa, Iowa 
      City, USA.
FAU - Reilly, Mary M
AU  - Reilly MM
AD  - MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, National 
      Hospital for Neurology, Queen Square, London WC1N 3BG, UK.
FAU - Pareyson, Davide
AU  - Pareyson D
AD  - Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of 
      Clinical Neurosciences, IRCCS Foundation, C. Besta Neurological Institute, Milan, 
      Italy. Electronic address: davide.pareyson@istituto-besta.it.
FAU - Sereda, Michael W
AU  - Sereda MW
AD  - Department of Clinical Neurophysiology, University Medical Center Gottingen, 
      Gottingen, Germany; Research Group "Molecular and Translational Neurology", 
      Department of Neurogenetics, Max Planck Institute of Experimental Medicine, 
      Gottingen, Germany. Electronic address: sereda@em.mpg.de.
LA  - eng
GR  - MR/K000608/1/MRC_/Medical Research Council/United Kingdom
PT  - Clinical Trial, Phase II
PT  - Clinical Trial, Phase III
PT  - Journal Article
PT  - Randomized Controlled Trial
PT  - Research Support, Non-U.S. Gov't
DEP - 20140619
PL  - England
TA  - Neuromuscul Disord
JT  - Neuromuscular disorders : NMD
JID - 9111470
RN  - 0 (Antioxidants)
RN  - PQ6CK8PD0R (Ascorbic Acid)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Age Factors
MH  - Antioxidants/*therapeutic use
MH  - Ascorbic Acid/*therapeutic use
MH  - Charcot-Marie-Tooth Disease/*diagnosis/*drug therapy/genetics/therapy
MH  - Cluster Analysis
MH  - Cohort Studies
MH  - Disease Progression
MH  - Double-Blind Method
MH  - Female
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Muscle Strength
MH  - *Outcome Assessment, Health Care
MH  - Pain Measurement
MH  - Psychomotor Performance/physiology
MH  - *Severity of Illness Index
MH  - Walking
MH  - Young Adult
OTO - NOTNLM
OT  - CMT1A
OT  - CMTNS
OT  - Charcot-Marie-Tooth
OT  - HMSN
OT  - Score generation
OT  - Secondary clinical outcome measures
EDAT- 2014/08/03 06:00
MHDA- 2015/07/21 06:00
CRDT- 2014/08/03 06:00
PHST- 2014/03/06 00:00 [received]
PHST- 2014/05/14 00:00 [revised]
PHST- 2014/06/03 00:00 [accepted]
PHST- 2014/08/03 06:00 [entrez]
PHST- 2014/08/03 06:00 [pubmed]
PHST- 2015/07/21 06:00 [medline]
AID - S0960-8966(14)00582-3 [pii]
AID - 10.1016/j.nmd.2014.06.431 [doi]
PST - ppublish
SO  - Neuromuscul Disord. 2014 Nov;24(11):1003-17. doi: 10.1016/j.nmd.2014.06.431. Epub 
      2014 Jun 19.