Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease

被引：38

作者：

Meggouh, F

de Visser, M

Arts, WFM

De Coo, RIFM

van Schaik, IN

Baas, F

机构：

[1] Univ Amsterdam, Acad Med Ctr, Neurogenet Lab, NL-1105 AZ Amsterdam, Netherlands

[2] Univ Amsterdam, Acad Med Ctr, Dept Neurol, NL-1105 AZ Amsterdam, Netherlands

[3] Erasmus Univ, Med Ctr, Sophia Childrens Hosp, Dept Pediat Neurol, Rotterdam, Netherlands

来源：

ANNALS OF NEUROLOGY | 2005年 / 57卷 / 04期

关键词：

D O I：

10.1002/ana.20434

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A 2-year-old boy presented with early-onset Charcot-Marie-Tooth disease (CMT). His parents had not been diagnosed previously with CMT, but on careful examination they showed clinical signs of CMT and reduced nerve conduction velocities. Genetic analysis identified the boy as a heterozygote for both a peripheral myelin protein 22 (PMP22) duplication and a mutation in the lipopolysaccharide-induced-tumour-necrosis-factor-alpha-factor(LITAF) gene, whereas each parent only had one mutated CMT gene. This suggests that LITAF mutations can severely affect the CMT phenotype caused by a PMP22 duplication.

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页码：589 / 591

页数：3

相关论文

共 10 条

[1] SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve [J].

Bennett, CL ;

Shirk, AJ ;

Huynh, HM ;

Street, VA ;

Nelis, E ;

Van Maldergem, L ;

De Jonghe, P ;

Jordanova, A ;

Guergueltcheva, V ;

Tournev, I ;

Van den Bergh, P ;

Seeman, P ;

Mazanec, R ;

Prochazka, T ;

Kremensky, I ;

Haberlova, J ;

Weiss, MD ;

Timmerman, V ;

Bird, TD ;

Chance, PF .

ANNALS OF NEUROLOGY, 2004, 55 (05) :713-720

[2] Signals for sorting of transmembrane proteins to endosomes and lysosomes [J].

Bonifacino, JS ;

Traub, LM .

ANNUAL REVIEW OF BIOCHEMISTRY, 2003, 72 :395-447

[3] LOWER MOTOR AND PRIMARY SENSORY NEURON DISEASES WITH PERONEAL MUSCULAR ATROPHY .2. NEUROLOGIC GENETIC AND ELECTROPHYSIOLOGIC FINDINGS IN VARIOUS NEURONAL DEGENERATIONS [J].

DYCK, PJ ;

LAMBERT, EH .

ARCHIVES OF NEUROLOGY, 1968, 18 (06) :619-&

[4]

HENSELS GW, 1993, CLIN CHEM, V39, P1845

[5]

Pareek S, 1997, J NEUROSCI, V17, P7754

[6] Aggresome formation in neuropathy models based on peripheral myelin protein 22 mutations [J].

Ryan, MC ;

Shooter, EM ;

Notterpek, L .

NEUROBIOLOGY OF DISEASE, 2002, 10 (02) :109-118

[7] Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: Comparison with the interphase FISH method [J].

Slater, H ;

Bruno, D ;

Ren, H ;

La, P ;

Burgess, T ;

Hills, L ;

Nouri, S ;

Schouten, J ;

Choo, KHA .

HUMAN MUTATION, 2004, 24 (02) :164-171

[8] Rapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA) [J].

Slater, HR ;

Bruno, DL ;

Ren, H ;

Pertile, M ;

Schouten, JP ;

Choo, KHA .

JOURNAL OF MEDICAL GENETICS, 2003, 40 (12) :907-912

[9] Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C [J].

Street, VA ;

Bennett, CL ;

Goldy, JD ;

Shirk, AJ ;

Kleopa, KA ;

Tempel, BL ;

Lipe, HP ;

Scherer, SS ;

Bird, TD ;

Chance, PF .

NEUROLOGY, 2003, 60 (01) :22-26

[10] The causes of Charcot-Marie-Tooth disease [J].

Young, P ;

Suter, U .

CELLULAR AND MOLECULAR LIFE SCIENCES, 2003, 60 (12) :2547-2560