Charcot-marie-tooth disease:: A clinico-genetic confrontation

被引：124

作者：

Barisic, N. ^{[1
]}

Claeys, K. G. ^{[2
,3
]}

Sirotkovic-Skerlev, M. ^{[4
]}

Lofgren, A. ^{[3
]}

Nelis, E. ^{[3
]}

De Jonghe, P. ^{[2
,3
]}

Timmerman, V. ^{[5
]}

机构：

[1] Univ Zagreb, Sch Med, Dept Pediat, Zagreb 41001, Croatia

[2] Univ Antwerp Hosp, Dept Neurol, Antwerp, Belgium

[3] Univ Antwerp VIB, Dept Mol Genet, Neurogenet Grp, B-2020 Antwerp, Belgium

[4] Univ Zagreb, Sch Med, Dept Pathophysiol, Zagreb 41001, Croatia

[5] Univ Antwerp VIB, Dept Mol Genet, Peripheral Neuropathy Grp, Antwerp, Belgium

来源：

ANNALS OF HUMAN GENETICS | 2008年 / 72卷

关键词：

Charcot-Marie-Tooth disease; molecular genetics; gene product function; neurophysiology; phenotype;

D O I：

10.1111/j.1469-1809.2007.00412.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Charcot-Marie-Tooth disease (CMT) is the most common neuromuscular disorder. It represents a group of clinically and genetically heterogeneous inherited neuropathies. Here, we review the results of molecular genetic investigations and the clinical and neurophysiological features of the different CMT subtypes. The products of genes associated with CMT phenotypes are important for the neuronal structure maintenance, axonal transport, nerve signal transduction and functions related to the cellular integrity. Identifying the molecular basis of CMT and studying the relevant genes and their functions is important to understand the pathophysiological mechanisms of these neurodegenerative disorders (,) under bar and the processes involved in the normal development and function of the peripheral nervous system. The results of molecular genetic investigations have impact on the appropriate diagnosis, genetic counselling and possible new therapeutic options for CMT patients.

引用

页码：416 / 441

页数：26

共 186 条

[1] Adlkofer K, 1997, J NEUROSCI, V17, P4662
[2] A novel chronic childhood sensory predominant neuropathy
Al-Twaijri, WA
Shevell, MI
[J]. PEDIATRIC NEUROLOGY, 2002, 27 (01) : 49 - 52
[3] Amato AA, 1996, MUSCLE NERVE, V19, P770
[4] Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease
Ammar, N
Nelis, E
Merlini, L
Barisic, N
Amouri, R
Ceuterick, C
Martin, JJ
Timmerman, V
Hentati, F
De Jonghe, P
[J]. NEUROMUSCULAR DISORDERS, 2003, 13 (09) : 720 - 728
[5] [Anonymous], 2001, PATHOLOGY PERIPHERAL
[6] Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V
Antonellis, A
Ellsworth, RE
Sambuughin, N
Puls, I
Abel, A
Lee-Lin, SQ
Jordanova, A
Kremensky, I
Christodoulou, K
Middleton, LT
Sivakumar, K
Ionasescu, V
Funalot, B
Vance, JM
Goldfarb, LG
Fischbeck, KH
Green, ED
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (05) : 1293 - 1299
[7] Phenotype-genotype correlations in a CMT2B family with refined 3q13-q22 locus
Auer-Grumbach, M
De Jonghe, P
Wagner, K
Verhoeven, K
Hartung, HP
Timmerman, V
[J]. NEUROLOGY, 2000, 55 (10) : 1552 - 1557
[8] Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene
Auer-Grumbach, M
Strasser-Fuchs, S
Robl, T
Windpassinger, C
Wagner, K
[J]. NEUROLOGY, 2003, 61 (10) : 1435 - 1437
[9] Molecular genetics of hereditary sensory neuropathies
Auer-Grumbach, Michaela
Mauko, Barbara
Auer-Grumbach, Piet
Pieber, Thomas R.
[J]. NEUROMOLECULAR MEDICINE, 2006, 8 (1-2) : 147 - 158
[10] Axelrod FB, 2003, SEMIN NEUROL, V23, P381

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