Charcot-Marie-Tooth disease with giant axons -: A clinicopathological and genetic entity

被引：22

作者：

Lus, G

Nelis, E

Jordanova, A

Löfgren, A

Cavallaro, T

Ammendola, A

Melone, MAB

Rizzuot, N

Timmerman, V

Cotrufo, R

De Jonghe, P

机构：

[1] Univ Naples 2, Fac Med, Dept Neurol Sci, Div Clin Neurol 1, I-80131 Naples, Italy

[2] Interuniv Ctr Res Neurosci, Naples, Italy

[3] Univ Antwerp UIA, Born Bunge Fdn, Peripheral Neuropathy Grp, B-2020 Antwerp, Belgium

[4] Univ Hosp Antwerp VIB, Div Neurol, Antwerp, Belgium

[5] Univ Verona, Dept Neurol & Visual Sci, Sect Clin Neurol, I-37100 Verona, Italy

来源：

NEUROLOGY | 2003年 / 61卷 / 07期

关键词：

D O I：

10.1212/WNL.61.7.988

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The authors report an Italian family with autosomal-dominant Charcot - Marie - Tooth disease (CMT) in which there were giant axons in the sural nerve biopsy. Linkage to the known CMT2 loci (CMT2A, CMT2B, CMT2D, CMT2F) and mutations in the known CMT2 genes (Cx32, MPZ, NEFL), GAN, NEFM, and CMT1A duplication/HNPP deletion were excluded. This family with CMT and giant axons has a pathologic and genetic entity distinct from classic CMT.

引用

收藏

页码：988 / 990

页数：3

相关论文

共 8 条

[1]

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy [J].

Bomont, P ;

Cavalier, L ;

Blondeau, F ;

Hamida, CB ;

Belal, S ;

Tazir, M ;

Demir, E ;

Topaloglu, H ;

Korinthenberg, R ;

Tüysüz, B ;

Landrieu, P ;

Hentati, F ;

Koenig, M .

NATURE GENETICS, 2000, 26 (03) :370-374

[2]

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

[3]

A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene [J].

Mersiyanova, IV ;

Perepelov, AV ;

Polyakov, AV ;

Sitnikov, VF ;

Dadali, EL ;

Oparin, RB ;

Petrin, AN ;

Evgrafov, OV .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (01) :37-46

[4]

PRENATAL-DIAGNOSIS OF CHARCOT-MARIE-TOOTH DISEASE TYPE 1A (CMT1A) USING MOLECULAR-GENETIC TECHNIQUES [J].

NAVON, R ;

TIMMERMAN, V ;

LOFGREN, A ;

LIANG, P ;

NELIS, E ;

ZEITUNE, M ;

Van Broeckhoven, C .

PRENATAL DIAGNOSIS, 1995, 15 (07) :633-640

[5]

Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13 [J].

Timmerman, V ;

De Jonghe, P ;

Spoelders, P ;

Simokovic, S ;

Lofgren, A ;

Nelis, E ;

Vance, J ;

Martin, JJ ;

Van Broeckhoven, C .

NEUROLOGY, 1996, 46 (05) :1311-1318

[6]

HEREDITARY MOTOR SENSORY NEUROPATHY TYPE-II WITH NEUROFILAMENT ACCUMULATION - NEW FINDING OR NEW DISORDER [J].

VOGEL, P ;

GABRIEL, M ;

GOEBEL, HH ;

DYCK, PJ .

ANNALS OF NEUROLOGY, 1985, 17 (05) :455-461

[7]

Charcot-Marie-Tooth 2-like presentation of an Algerian family with giant axonal neuropathy [J].

Zemmouri, R ;

Azzedine, H ;

Assami, S ;

Kitouni, N ;

Vallat, JM ;

Maisonobe, T ;

Hamadouche, T ;

Kessaci, M ;

Mansouri, B ;

Le Guern, E ;

Grid, D ;

Tazir, M .

NEUROMUSCULAR DISORDERS, 2000, 10 (08) :592-598

[8]

Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bβ [J].

Zhao, C ;

Takita, J ;

Tanaka, Y ;

Setou, M ;

Nakagawa, T ;

Takeda, S ;

Yang, HW ;

Terada, S ;

Nakata, T ;

Takei, Y ;

Saito, M ;

Tsuji, S ;

Hayashi, Y ;

Hirokawa, N .

CELL, 2001, 105 (05) :587-597