Hereditary demyelinating neuropathies: from gene to disease

被引：8

作者：

Hanemann, CO ^{[1
]}

机构：

[1] Univ Ulm, Zentrum Klin Forsch, Dept Neurol, D-89081 Ulm, Germany

来源：

NEUROGENETICS | 2001年 / 3卷 / 02期

关键词：

hereditary demyelinating neuropathies; Charcot-Marie-Tooth disease; genotype; phenotype; pathogenesis;

D O I：

10.1007/s100480000102

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

In the first part of this review on hereditary demyelinating neuropathies genotype-phenotype correlations are made in order to suggest a simplified classification of hereditary demyelinating neuropathies. Secondly pathological mechanisms of most common and some rare genotypes are described to elucidate differences, but also to point out common themes in the pathological mechanisms of these disorders. The review focuses on data derived from human studies.

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页码：53 / 57

页数：5

相关论文

共 42 条

[1] Mutations in connexin 32: the molecular and biophysical bases for the X-linked form of Charcot-Marie-Tooth disease [J].

Abrams, CK ;

Oh, S ;

Ri, Y ;

Bargiello, TA .

BRAIN RESEARCH REVIEWS, 2000, 32 (01) :203-214

[2] Roussy-Levy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2 [J].

Auer-Grumbach, M ;

Strasser-Fuchs, S ;

Wagner, K ;

Körner, E ;

Fazekas, F .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 1998, 154 (01) :72-75

[3] Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15 [J].

Ben Othmane, K ;

Johnson, E ;

Menold, M ;

Graham, FL ;

Ben Hamida, M ;

Hasegawa, O ;

Rogala, AD ;

Ohnishi, A ;

Pericak-Vance, M ;

Hentati, F ;

Vance, JM .

GENOMICS, 1999, 62 (03) :344-349

[4] Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2 [J].

Bolino, A ;

Muglia, M ;

Conforti, FL ;

LeGuern, E ;

Salih, MAM ;

Georgiou, DM ;

Christodoulou, K ;

Hausmanowa-Petrusewicz, I ;

Mandich, P ;

Schenone, A ;

Gambardella, A ;

Bono, F ;

Quattrone, A ;

Devoto, M ;

Monaco, AP .

NATURE GENETICS, 2000, 25 (01) :17-19

[5] Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing [J].

Bolino, A ;

Brancolini, V ;

Bono, F ;

Bruni, A ;

Gambardella, A ;

Romeo, G ;

Quattrone, A ;

Devoto, M .

HUMAN MOLECULAR GENETICS, 1996, 5 (07) :1051-1054

[6]

D'Urso D, 1998, J NEUROSCI, V18, P731

[7] The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype [J].

De Jonghe, P ;

Timmerman, V ;

Ceuterick, C ;

Nelis, E ;

De Vriendt, E ;

Löfgren, A ;

Vercruyssen, A ;

Verellen, C ;

Van Maldergem, L ;

Martin, JJ ;

Van Broeckhoven, C .

BRAIN, 1999, 122 :281-290

[8] Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family:: Exclusion of MAG as a candidate gene [J].

Delague, V ;

Bareil, C ;

Tuffery, S ;

Bouvagnet, P ;

Chouery, E ;

Koussa, S ;

Maisonobe, T ;

Loiselet, J ;

Mégarbané, A ;

Claustres, M .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (01) :236-243

[9]

DYCK P, 1992, PERIPHERAL NEUROPATH, P299

[10] X-linked Charcot-Marie-Tooth disease and connexin32 [J].

Fischbeck, KH ;

Abel, A ;

Lin, GS ;

Scherer, SS .

CHARCOT-MARIE-TOOTH DISORDERS, 1999, 883 :36-41

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