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CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

BackgroundThe international Inherited Neuropathy Consortium (INC) was created with the goal of obtaining much needed natural history data for patients with Charcot-Marie-Tooth (CMT) disease. We analysed clinical and genetic data from patients in the INC to determine the distribution of CMT subtypes... Full description

Journal Title: Journal of Neurology Neurosurgery, and Psychiatry, 2015-08, Vol.86 (8), p.873-878
Main Author: Fridman, V
Other Authors: Bundy, B , Reilly, M M , Pareyson, D , Bacon, C , Burns, J , Day, J , Feely, S , Finkel, R S , Grider, T , Kirk, C A , Herrmann, D N , Laurá, M , Li, J , Lloyd, T , Sumner, C J , Muntoni, F , Piscosquito, G , Ramchandren, S , Shy, R , Siskind, C E , Yum, S W , Moroni, I , Pagliano, E , Zuchner, S , Scherer, S S , Shy, M E
Format: Electronic Article Electronic Article
Language: English
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Publisher: England: BMJ Publishing Group Ltd
ID: ISSN: 0022-3050
Link: https://www.ncbi.nlm.nih.gov/pubmed/25430934
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recordid: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4516002
title: CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis
format: Article
creator:
  • Fridman, V
  • Bundy, B
  • Reilly, M M
  • Pareyson, D
  • Bacon, C
  • Burns, J
  • Day, J
  • Feely, S
  • Finkel, R S
  • Grider, T
  • Kirk, C A
  • Herrmann, D N
  • Laurá, M
  • Li, J
  • Lloyd, T
  • Sumner, C J
  • Muntoni, F
  • Piscosquito, G
  • Ramchandren, S
  • Shy, R
  • Siskind, C E
  • Yum, S W
  • Moroni, I
  • Pagliano, E
  • Zuchner, S
  • Scherer, S S
  • Shy, M E
subjects:
  • 1506
  • abnormalities
  • Adaptor Proteins, Signal Transducing
  • Cell Cycle Proteins
  • Charcot-Marie-Tooth disease
  • Charcot-Marie-Tooth Disease - classification
  • Charcot-Marie-Tooth Disease - genetics
  • Charcot-Marie-Tooth Disease - pathology
  • Charcot-Marie-Tooth Disease - physiopathology
  • congenital
  • Connexins - genetics
  • Consortia
  • Cost of Illness
  • Cross-Sectional Studies
  • Disease
  • Family medical history
  • Female
  • Gene mutations
  • Genetic aspects
  • GENETICS
  • GTP Phosphohydrolases - genetics
  • Health aspects
  • hereditary
  • Humans
  • Laboratories
  • Male
  • Mitochondrial Proteins - genetics
  • Mutation
  • Mutation - genetics
  • Myelin P0 Protein - genetics
  • Myelin Proteins - genetics
  • neonatal diseases
  • nervous system diseases
  • Neurogenetics
  • NEUROPATHY
  • Nuclear Proteins
  • Patients
  • Peripheral neuropathy
  • Proteins - genetics
  • Risk factors
  • Studies
ispartof: Journal of Neurology, Neurosurgery, and Psychiatry, 2015-08, Vol.86 (8), p.873-878
description: BackgroundThe international Inherited Neuropathy Consortium (INC) was created with the goal of obtaining much needed natural history data for patients with Charcot-Marie-Tooth (CMT) disease. We analysed clinical and genetic data from patients in the INC to determine the distribution of CMT subtypes and the clinical impairment associated with them.MethodsWe analysed data from 1652 patients evaluated at 13 INC centres. The distribution of CMT subtypes and pathogenic genetic mutations were determined. The disease burden of all the mutations was assessed by the CMT Neuropathy Score (CMTNS) and CMT Examination Score (CMTES).Results997 of the 1652 patients (60.4%) received a genetic diagnosis. The most common CMT subtypes were CMT1A/PMP22 duplication, CMT1X/GJB1 mutation, CMT2A/MFN2 mutation, CMT1B/MPZ mutation, and hereditary neuropathy with liability to pressure palsy/PMP22 deletion. These five subtypes of CMT accounted for 89.2% of all genetically confirmed mutations. Mean CMTNS for some but not all subtypes were similar to those previously reported.ConclusionsOur findings confirm that large numbers of patients with a representative variety of CMT subtypes have been enrolled and that the frequency of achieving a molecular diagnosis and distribution of the CMT subtypes reflects those previously reported. Measures of severity are similar, though not identical, to results from smaller series. This study confirms that it is possible to assess patients in a uniform way between international centres, which is critical for the planned natural history study and future clinical trials. These data will provide a representative baseline for longitudinal studies of CMT.Clinical trial registrationID number NCT01193075.
language: eng
source:
identifier: ISSN: 0022-3050
fulltext: no_fulltext
issn:
  • 0022-3050
  • 1468-330X
url: Link


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titleCMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis
creatorFridman, V ; Bundy, B ; Reilly, M M ; Pareyson, D ; Bacon, C ; Burns, J ; Day, J ; Feely, S ; Finkel, R S ; Grider, T ; Kirk, C A ; Herrmann, D N ; Laurá, M ; Li, J ; Lloyd, T ; Sumner, C J ; Muntoni, F ; Piscosquito, G ; Ramchandren, S ; Shy, R ; Siskind, C E ; Yum, S W ; Moroni, I ; Pagliano, E ; Zuchner, S ; Scherer, S S ; Shy, M E
creatorcontribFridman, V ; Bundy, B ; Reilly, M M ; Pareyson, D ; Bacon, C ; Burns, J ; Day, J ; Feely, S ; Finkel, R S ; Grider, T ; Kirk, C A ; Herrmann, D N ; Laurá, M ; Li, J ; Lloyd, T ; Sumner, C J ; Muntoni, F ; Piscosquito, G ; Ramchandren, S ; Shy, R ; Siskind, C E ; Yum, S W ; Moroni, I ; Pagliano, E ; Zuchner, S ; Scherer, S S ; Shy, M E ; Inherited Neuropathies Consortium
descriptionBackgroundThe international Inherited Neuropathy Consortium (INC) was created with the goal of obtaining much needed natural history data for patients with Charcot-Marie-Tooth (CMT) disease. We analysed clinical and genetic data from patients in the INC to determine the distribution of CMT subtypes and the clinical impairment associated with them.MethodsWe analysed data from 1652 patients evaluated at 13 INC centres. The distribution of CMT subtypes and pathogenic genetic mutations were determined. The disease burden of all the mutations was assessed by the CMT Neuropathy Score (CMTNS) and CMT Examination Score (CMTES).Results997 of the 1652 patients (60.4%) received a genetic diagnosis. The most common CMT subtypes were CMT1A/PMP22 duplication, CMT1X/GJB1 mutation, CMT2A/MFN2 mutation, CMT1B/MPZ mutation, and hereditary neuropathy with liability to pressure palsy/PMP22 deletion. These five subtypes of CMT accounted for 89.2% of all genetically confirmed mutations. Mean CMTNS for some but not all subtypes were similar to those previously reported.ConclusionsOur findings confirm that large numbers of patients with a representative variety of CMT subtypes have been enrolled and that the frequency of achieving a molecular diagnosis and distribution of the CMT subtypes reflects those previously reported. Measures of severity are similar, though not identical, to results from smaller series. This study confirms that it is possible to assess patients in a uniform way between international centres, which is critical for the planned natural history study and future clinical trials. These data will provide a representative baseline for longitudinal studies of CMT.Clinical trial registrationID number NCT01193075.
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1EISSN: 1468-330X
2DOI: 10.1136/jnnp-2014-308826
3PMID: 25430934
4CODEN: JNNPAU
languageeng
publisherEngland: BMJ Publishing Group Ltd
subject1506 ; abnormalities ; Adaptor Proteins, Signal Transducing ; Cell Cycle Proteins ; Charcot-Marie-Tooth disease ; Charcot-Marie-Tooth Disease - classification ; Charcot-Marie-Tooth Disease - genetics ; Charcot-Marie-Tooth Disease - pathology ; Charcot-Marie-Tooth Disease - physiopathology ; congenital ; Connexins - genetics ; Consortia ; Cost of Illness ; Cross-Sectional Studies ; Disease ; Family medical history ; Female ; Gene mutations ; Genetic aspects ; GENETICS ; GTP Phosphohydrolases - genetics ; Health aspects ; hereditary ; Humans ; Laboratories ; Male ; Mitochondrial Proteins - genetics ; Mutation ; Mutation - genetics ; Myelin P0 Protein - genetics ; Myelin Proteins - genetics ; neonatal diseases ; nervous system diseases ; Neurogenetics ; NEUROPATHY ; Nuclear Proteins ; Patients ; Peripheral neuropathy ; Proteins - genetics ; Risk factors ; Studies
ispartofJournal of Neurology, Neurosurgery, and Psychiatry, 2015-08, Vol.86 (8), p.873-878
rights
0Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions
1Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.
2Copyright: 2015 Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions
3Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions 2015
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0Fridman, V
1Bundy, B
2Reilly, M M
3Pareyson, D
4Bacon, C
5Burns, J
6Day, J
7Feely, S
8Finkel, R S
9Grider, T
10Kirk, C A
11Herrmann, D N
12Laurá, M
13Li, J
14Lloyd, T
15Sumner, C J
16Muntoni, F
17Piscosquito, G
18Ramchandren, S
19Shy, R
20Siskind, C E
21Yum, S W
22Moroni, I
23Pagliano, E
24Zuchner, S
25Scherer, S S
26Shy, M E
27Inherited Neuropathies Consortium
title
0CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis
1Journal of Neurology, Neurosurgery, and Psychiatry
addtitleJ Neurol Neurosurg Psychiatry
descriptionBackgroundThe international Inherited Neuropathy Consortium (INC) was created with the goal of obtaining much needed natural history data for patients with Charcot-Marie-Tooth (CMT) disease. We analysed clinical and genetic data from patients in the INC to determine the distribution of CMT subtypes and the clinical impairment associated with them.MethodsWe analysed data from 1652 patients evaluated at 13 INC centres. The distribution of CMT subtypes and pathogenic genetic mutations were determined. The disease burden of all the mutations was assessed by the CMT Neuropathy Score (CMTNS) and CMT Examination Score (CMTES).Results997 of the 1652 patients (60.4%) received a genetic diagnosis. The most common CMT subtypes were CMT1A/PMP22 duplication, CMT1X/GJB1 mutation, CMT2A/MFN2 mutation, CMT1B/MPZ mutation, and hereditary neuropathy with liability to pressure palsy/PMP22 deletion. These five subtypes of CMT accounted for 89.2% of all genetically confirmed mutations. Mean CMTNS for some but not all subtypes were similar to those previously reported.ConclusionsOur findings confirm that large numbers of patients with a representative variety of CMT subtypes have been enrolled and that the frequency of achieving a molecular diagnosis and distribution of the CMT subtypes reflects those previously reported. Measures of severity are similar, though not identical, to results from smaller series. This study confirms that it is possible to assess patients in a uniform way between international centres, which is critical for the planned natural history study and future clinical trials. These data will provide a representative baseline for longitudinal studies of CMT.Clinical trial registrationID number NCT01193075.
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1abnormalities
2Adaptor Proteins, Signal Transducing
3Cell Cycle Proteins
4Charcot-Marie-Tooth disease
5Charcot-Marie-Tooth Disease - classification
6Charcot-Marie-Tooth Disease - genetics
7Charcot-Marie-Tooth Disease - pathology
8Charcot-Marie-Tooth Disease - physiopathology
9congenital
10Connexins - genetics
11Consortia
12Cost of Illness
13Cross-Sectional Studies
14Disease
15Family medical history
16Female
17Gene mutations
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20GTP Phosphohydrolases - genetics
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22hereditary
23Humans
24Laboratories
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26Mitochondrial Proteins - genetics
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29Myelin P0 Protein - genetics
30Myelin Proteins - genetics
31neonatal diseases
32nervous system diseases
33Neurogenetics
34NEUROPATHY
35Nuclear Proteins
36Patients
37Peripheral neuropathy
38Proteins - genetics
39Risk factors
40Studies
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0Fridman, V
1Bundy, B
2Reilly, M M
3Pareyson, D
4Bacon, C
5Burns, J
6Day, J
7Feely, S
8Finkel, R S
9Grider, T
10Kirk, C A
11Herrmann, D N
12Laurá, M
13Li, J
14Lloyd, T
15Sumner, C J
16Muntoni, F
17Piscosquito, G
18Ramchandren, S
19Shy, R
20Siskind, C E
21Yum, S W
22Moroni, I
23Pagliano, E
24Zuchner, S
25Scherer, S S
26Shy, M E
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titleCMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis
authorFridman, V ; Bundy, B ; Reilly, M M ; Pareyson, D ; Bacon, C ; Burns, J ; Day, J ; Feely, S ; Finkel, R S ; Grider, T ; Kirk, C A ; Herrmann, D N ; Laurá, M ; Li, J ; Lloyd, T ; Sumner, C J ; Muntoni, F ; Piscosquito, G ; Ramchandren, S ; Shy, R ; Siskind, C E ; Yum, S W ; Moroni, I ; Pagliano, E ; Zuchner, S ; Scherer, S S ; Shy, M E
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01506
1abnormalities
2Adaptor Proteins, Signal Transducing
3Cell Cycle Proteins
4Charcot-Marie-Tooth disease
5Charcot-Marie-Tooth Disease - classification
6Charcot-Marie-Tooth Disease - genetics
7Charcot-Marie-Tooth Disease - pathology
8Charcot-Marie-Tooth Disease - physiopathology
9congenital
10Connexins - genetics
11Consortia
12Cost of Illness
13Cross-Sectional Studies
14Disease
15Family medical history
16Female
17Gene mutations
18Genetic aspects
19GENETICS
20GTP Phosphohydrolases - genetics
21Health aspects
22hereditary
23Humans
24Laboratories
25Male
26Mitochondrial Proteins - genetics
27Mutation
28Mutation - genetics
29Myelin P0 Protein - genetics
30Myelin Proteins - genetics
31neonatal diseases
32nervous system diseases
33Neurogenetics
34NEUROPATHY
35Nuclear Proteins
36Patients
37Peripheral neuropathy
38Proteins - genetics
39Risk factors
40Studies
toplevelpeer_reviewed
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0Fridman, V
1Bundy, B
2Reilly, M M
3Pareyson, D
4Bacon, C
5Burns, J
6Day, J
7Feely, S
8Finkel, R S
9Grider, T
10Kirk, C A
11Herrmann, D N
12Laurá, M
13Li, J
14Lloyd, T
15Sumner, C J
16Muntoni, F
17Piscosquito, G
18Ramchandren, S
19Shy, R
20Siskind, C E
21Yum, S W
22Moroni, I
23Pagliano, E
24Zuchner, S
25Scherer, S S
26Shy, M E
27Inherited Neuropathies Consortium
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0Fridman, V
1Bundy, B
2Reilly, M M
3Pareyson, D
4Bacon, C
5Burns, J
6Day, J
7Feely, S
8Finkel, R S
9Grider, T
10Kirk, C A
11Herrmann, D N
12Laurá, M
13Li, J
14Lloyd, T
15Sumner, C J
16Muntoni, F
17Piscosquito, G
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19Shy, R
20Siskind, C E
21Yum, S W
22Moroni, I
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24Zuchner, S
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atitleCMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis
jtitleJournal of Neurology, Neurosurgery, and Psychiatry
addtitleJ Neurol Neurosurg Psychiatry
seriestitleResearch paper
date2015-08
risdate2015
volume86
issue8
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pages873-878
issn0022-3050
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abstractBackgroundThe international Inherited Neuropathy Consortium (INC) was created with the goal of obtaining much needed natural history data for patients with Charcot-Marie-Tooth (CMT) disease. We analysed clinical and genetic data from patients in the INC to determine the distribution of CMT subtypes and the clinical impairment associated with them.MethodsWe analysed data from 1652 patients evaluated at 13 INC centres. The distribution of CMT subtypes and pathogenic genetic mutations were determined. The disease burden of all the mutations was assessed by the CMT Neuropathy Score (CMTNS) and CMT Examination Score (CMTES).Results997 of the 1652 patients (60.4%) received a genetic diagnosis. The most common CMT subtypes were CMT1A/PMP22 duplication, CMT1X/GJB1 mutation, CMT2A/MFN2 mutation, CMT1B/MPZ mutation, and hereditary neuropathy with liability to pressure palsy/PMP22 deletion. These five subtypes of CMT accounted for 89.2% of all genetically confirmed mutations. Mean CMTNS for some but not all subtypes were similar to those previously reported.ConclusionsOur findings confirm that large numbers of patients with a representative variety of CMT subtypes have been enrolled and that the frequency of achieving a molecular diagnosis and distribution of the CMT subtypes reflects those previously reported. Measures of severity are similar, though not identical, to results from smaller series. This study confirms that it is possible to assess patients in a uniform way between international centres, which is critical for the planned natural history study and future clinical trials. These data will provide a representative baseline for longitudinal studies of CMT.Clinical trial registrationID number NCT01193075.
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