A novel mutation of myelin protein zero associated with late-onset predominantly axonal Charcot-Marie-Tooth disease

被引：0

作者：

Maria Marttila

Bernd Rautenstrauss

Kathrin Huehne

Virpi Laitinen

Kari Majamaa

Mikko Kärppä

机构：

[1] University of Oulu,Department of Clinical Medicine, Neurology

[2] Oulu University Hospital,Clinical Research Center

[3] Medizinisch Genetisches Zentrum and Friedrich-Baur-Institute,Department of Medical Biochemistry and Genetics, Diagnostic DNA Laboratory

[4] University of Munich,Laboratory of Cancer Genetics

[5] Institute of Human Genetics,undefined

[6] University Hospital Erlangen-Nuremberg,undefined

[7] Institute of Biomedicine,undefined

[8] University of Turku,undefined

[9] Institute of Biomedical Technology (IBT),undefined

[10] University of Tampere,undefined

来源：

Journal of Neurology | 2012年 / 259卷

关键词：

MPZ; P0; Charcot-Marie-Tooth disease; Peripheral polyneuropathy;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

We report a case of late-onset predominantly axonal Charcot-Marie-Tooth disease resulting from a novel mutation in the MPZ gene encoding myelin protein zero (P0). Neurological examination, electrophysiological examination and genetic testing were performed on three members of a Finnish family (family A) and one member of a German family (family B). Three other members of the Finnish family were interviewed and genetically tested. Genetic testing was also performed on 95 healthy Finnish controls. Three members in two generations of family A and the member of family B were affected with late-onset axonal more than demyelinating, motor and sensory polyneuropathy. Heterozygous c.316C>T mutation in MPZ leading to p.Arg106Cys in P0 was found in all the affected subjects, but not in the three unaffected members of the Finnish family. None of 95 healthy Finnish controls harbored the mutation. The findings of this study indicate that p.Arg106Cys allele in MPZ causes late-onset predominantly axonal sensory and motor neuropathy.

引用

页码：1585 / 1589

页数：4

共 52 条

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