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Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families.
Acta Neurol Scand. 2008 Nov; 118(5):328-32.AN

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.

Authors+Show Affiliations

Department of Neurosciences, Psychiatry and Anaesthesiology University of Messina, Messina, Italy. annamazzeo@yahoo.itNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

18422810

Citation

Mazzeo, A, et al. "Charcot-Marie-Tooth Disease Type 1B: Marked Phenotypic Variation of the Ser78Leu Mutation in Five Italian Families." Acta Neurologica Scandinavica, vol. 118, no. 5, 2008, pp. 328-32.
Mazzeo A, Muglia M, Rodolico C, et al. Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families. Acta Neurol Scand. 2008;118(5):328-32.
Mazzeo, A., Muglia, M., Rodolico, C., Toscano, A., Patitucci, A., Quattrone, A., Messina, C., & Vita, G. (2008). Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families. Acta Neurologica Scandinavica, 118(5), 328-32. https://doi.org/10.1111/j.1600-0404.2008.01021.x
Mazzeo A, et al. Charcot-Marie-Tooth Disease Type 1B: Marked Phenotypic Variation of the Ser78Leu Mutation in Five Italian Families. Acta Neurol Scand. 2008;118(5):328-32. PubMed PMID: 18422810.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families. AU - Mazzeo,A, AU - Muglia,M, AU - Rodolico,C, AU - Toscano,A, AU - Patitucci,A, AU - Quattrone,A, AU - Messina,C, AU - Vita,G, Y1 - 2008/04/12/ PY - 2008/4/22/pubmed PY - 2009/4/10/medline PY - 2008/4/22/entrez SP - 328 EP - 32 JF - Acta neurologica Scandinavica JO - Acta Neurol. Scand. VL - 118 IS - 5 N2 - 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. SN - 1600-0404 UR - https://www.unboundmedicine.com/medline/citation/18422810/Charcot_Marie_Tooth_disease_type_1B:_marked_phenotypic_variation_of_the_Ser78Leu_mutation_in_five_Italian_families_ L2 - https://doi.org/10.1111/j.1600-0404.2008.01021.x DB - PRIME DP - Unbound Medicine ER -