Phenotype of Charcot-Marie-Tooth disease Type 2

被引:51
作者
Bienfait, H. M. E.
Baas, F.
Koelman, J. H. T. M.
de Haan, R. J.
van Engelen, B. G. M.
Gabreels-Festen, A. A. W. M.
de Visser, B. W. Ongerboer
Meggouh, F.
Weterman, M. A. J.
De Jonghe, P.
Timmerman, V.
de Visser, M.
机构
[1] Univ Amsterdam, Acad Med Ctr, Dept Neurol, NL-1100 DD Amsterdam, Netherlands
[2] Univ Amsterdam, Acad Med Ctr, Unit Clin Neurophysiol, NL-1100 DD Amsterdam, Netherlands
[3] Univ Amsterdam, Acad Med Ctr, Neurogenet Lab, NL-1100 DD Amsterdam, Netherlands
[4] Univ Amsterdam, Acad Med Ctr, Dept Clin Epidemiol & Biostat, NL-1100 DD Amsterdam, Netherlands
[5] Univ Nijmegen, Med Ctr, Inst Neurol, Nijmegen, Netherlands
[6] Univ Antwerp VIB, Dept Mol Genet, B-2020 Antwerp, Belgium
关键词
D O I
10.1212/01.wnl.0000263479.97552.94
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
To investigate the clinical and electrophysiologic phenotype of Charcot-Marie-Tooth disease (CMT) Type 2 in a large number of affected families. Methods: We excluded CMT Type 1, hereditary neuropathy with liability to pressure palsies, and CMT due to Cx32 gene mutations by DNA analysis. We performed genetic analysis of the presently known CMT Type 2 genes. Results: Sixty-one persons from 18 families were affected. Ninety percent of patients were able to walk with or without the help of aids. Proximal leg muscle weakness was present in 13%. Asymmetrical features were present in 15%. Normal or brisk knee reflexes were present in 36%. Extensor plantar responses without associated spasticity occurred in 10 patients from eight families. Only three causative mutations were identified in the MFN2, BSCL2, and RAB7 genes. No mutations were found in the NEFL, HSPB1, HSPB8, GARS, DNM2, and GDAP1 genes. Conclusions: At group level, the clinical phenotype of Charcot-Marie-Tooth disease (CMT) Type 2 is uniform, with symmetric, distal weakness, atrophy and sensory disturbances, more pronounced in the legs than in the arms, notwithstanding the genetic heterogeneity. Brisk reflexes, extensor plantar responses, and asymmetrical muscle involvement can be considered part of the CMT Type 2 phenotype. The causative gene mutation was found in only 17% of the families we studied.
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页码:1658 / 1667
页数:10
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