TY - JOUR
T1 - Charcot-Marie-Tooth type X
T2 - Unusual phenotype of a novel CX32 mutation
AU - Mazzeo, A.
AU - Di Leo, R.
AU - Toscano, A.
AU - Muglia, M.
AU - Patitucci, A.
AU - Messina, C.
AU - Vita, G.
PY - 2008/10
Y1 - 2008/10
N2 - 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.
AB - 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.
KW - GJB1 (connexin 32)
KW - Late-onset neuropathy
KW - X-linked Charcot-Marie-Tooth
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U2 - 10.1111/j.1468-1331.2008.02263.x
DO - 10.1111/j.1468-1331.2008.02263.x
M3 - Article
C2 - 18717720
AN - SCOPUS:51349097431
VL - 15
SP - 1140
EP - 1142
JO - European Journal of Neurology
JF - European Journal of Neurology
SN - 1351-5101
IS - 10
ER -