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Charcot-Marie-Tooth type X: unusual phenotype of a novel CX32 mutation.

Abstract：

BACKGROUND:X-linked Charcot-Marie-Tooth disease (CMTX), caused by mutations in the gene encoding connexin32, is the second most common form of inherited demyelinating neuropathy, next to CMT 1A, and accounts for 10-20% of all hereditary demyelinating neuropathies. AIMS OF THE STUDY:To describe clinical and electrophysiological data of an Italian family carrying a novel mutation in the Cx32 gene. PATIENTS AND METHODS:Clinical, electrophysiological, and genetic findings of three patients carrying the Ser128Leu mutation in the intracellular domain of the Cx32 gene were reported. Brain MRI studies were also performed. RESULTS:In our family the disease was characterized by a moderate-to-severe polyneuropathy affecting similarly males as well females. In the proband the phenotype was quite unusual in terms of late-onset, rapidity of evolution and severity. Abnormal brain MRI in association with CNS symptoms were also observed. Both sons had also clinical evidence of CNS involvement. CONCLUSIONS:The Ser128Leu mutation in the Cx-32 gene is a novel substitution, which has not been reported so far. This novel mutation could be added to the group of Cx-32 mutations with CNS phenotypes. The identification of new CMTX causing mutations is a crucial step for carrier detection and pre-symptomatic diagnosis.

journal_name

Eur J Neurol

journal_title

European journal of neurology

authors

Mazzeo A,Di Leo R,Toscano A,Muglia M,Patitucci A,Messina C,Vita G

doi

10.1111/j.1468-1331.2008.02263.x

subject

Has Abstract

pub_date

2008-10-01 00:00:00

pages

1140-2

issue

10

eissn

1351-5101

issn

1468-1331

pii

ENE2263

journal_volume

15

pub_type

杂志文章

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