期刊
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
卷 86, 期 8, 页码 873-878出版社
BMJ PUBLISHING GROUP
DOI: 10.1136/jnnp-2014-308826
关键词
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资金
- National Institutes of Neurological Diseases and Stroke (NINDS) [U54N5065712]
- NIH Office of Rare Diseases Research (ORDR) at the National Center for Advancing Translational Sciences (NCATS)
- Muscular Dystrophy Association (MDA)
- Charcot Marie Tooth Association (CMTA)
- NINDS [R01 NS066927]
- Vanderbilt Institute for Clinical and Translational Research fund [VR1687]
- Department of Health's National Institute for Health Research Biomedical Research Centres
- MRC [MR/K000608/1] Funding Source: UKRI
- Medical Research Council [MR/K000608/1] Funding Source: researchfish
- NATIONAL CENTER FOR ADVANCING TRANSLATIONAL SCIENCES [U01TR001263] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE [R01NS066927, K23NS072279, U54NS065712] Funding Source: NIH RePORTER
Background The 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. Methods We 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). Results 997 of the 1652 patients (60.4%) received a genetic diagnosis. The most common CMT subtypes were CMT1 AIPMP22 duplication, CMT1X/G./81 mutation, CMT2A/MFN2 mutation, CMT1 BIMPZ 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. Conclusions Our 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.
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