当前位置： SCI文献检索 > ACTA NEUROLOGICA SCANDINAVICA期刊下所有文献 > Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families.

Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families.

Abstract：

OBJECTIVES:To describe clinical, electrophysiological and genetic data of five unrelated Sicilian pedigrees harbouring a heterozygous Ser78Leu mutation in the myelin protein zero (MPZ) extracellular domain. MATERIALS AND METHODS:Clinical, electrophysiological and genetic findings of 16 patients were reported. Polymorphic markers flanking the coding sequence of MPZ gene were also analysed. RESULTS:A wide range of age at onset was observed in families 1 and 3, with a clinical heterogeneity, in terms of severity of the disease, within the same family (families 1 and 3), and among families. A markedly unsteady gait was a distinctive feature of many members of family 1. All patients in family 2 complained of severe cramps and painful paresthesia. Molecular genetic analysis showed that all affected subjects shared a common haplotype at three microsatellite loci D1S2858, D1S2624 and D1S484. CONCLUSIONS:Our study provides further evidence that phenotypic features of MPZ mutations can vary within and among different families. High frequency of Ser78Leu mutation in Sicily as well as the results of haplotype analyses suggest that the mutation may have been inherited from a common ancestor.

journal_name

Acta Neurol Scand

journal_title

Acta neurologica Scandinavica

authors

Mazzeo A,Muglia M,Rodolico C,Toscano A,Patitucci A,Quattrone A,Messina C,Vita G

doi

10.1111/j.1600-0404.2008.01021.x

subject

Has Abstract

pub_date

2008-11-01 00:00:00

pages

328-32

issue

5

eissn

0001-6314

issn

1600-0404

pii

ANE1021

journal_volume

118

pub_type

杂志文章

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