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At least 631 records · Page 35Linked to original sources
PubMed2001

Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.

Charcot-Marie-Tooth neuropathy type 1 (CMT1), the most common hereditary neurological disorder in humans, is characterized by clinical and genetic heterogeneity. It is caused mainly by a 1.5 Mb duplication in 17p11.2, but also by mutations in the myelin genes PMP22 (peripheral myelin protein 22), MPZ (myelin protein zero), Cx32 (connexin 32; also called GJB1), and EGR2 (early growth response 2). In this study, we have screened 172 index cases of Italian families in which there was at least one subject with a CMT1 diagnosis for the duplication on 17p11.2 and mutations in these genes. Among 170 informative unrelated patients, the overall duplication frequency was 57.6%. A difference could be observed between the duplication frequency in familial cases (71.6%) and that observed in non-familial cases (36.8%). Among the non-duplicated patients, 12 were mutated in Cx32, four in MPZ, two in PMP22, and none in the EGR2. In the non-duplicated cases, the overall point mutation frequency for these genes was 25.0%. We describe the mutations identified, and consider possible genotype-phenotype correlation.

Charcot-Marie-Tooth Disease↗
PubMed1998

X-linked dominant Charcot-Marie-Tooth disease: nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22Gln).

X-linked Charcot-Marie-Tooth neuropathy (CMTX) is caused by mutations in the connexin32 gene on Xq13. Because of overlapping morphological and clinical data, CMTX patients often meet the criteria of autosomal-dominant CMT2, the neuronal type of CMT. Hence, it might be useful to analyse the connexin32 gene in suspected CMT2 patients when there is no male-to-male transmission. We selected a cohort of 30 patients who were considered having CMT2 on the basis of previous clinical and histopathological evaluation. DNA was extracted from paraffin-embedded sural nerve biopsy samples and screened for connexin32 mutations to verify the possible diagnosis of CMTX. In 2 patients mutations were found corresponding to amino acid substitutions of arginine for tryptophan in codon 15 and arginine for glutamine in codon 22 of connexin32. This study illustrates that archival material allows genetic classification of suspected CMT cases. Furthermore, there is additional proof that connexin32 mutations represent the underlying genetic defect in some cases of predominantly neuronal CMT.

Adolescent↗
PubMed2005

Charcot-Marie-Tooth Disease type 1 and pediatric true vocal fold paralysis.

A case study of a child with Charcot-Marie-Tooth type 1 (CMT1) that presented with bilateral vocal fold paralysis. This is the first case of bilateral vocal fold paralysis in a child with CMT1 and it is the first case to be managed endoscopically. The surgical decision making process is discussed, and in particular the role of fiberoptic endoscopic evaluation of swallowing (FEES) in determining what surgical options should be entertained. In children with bilateral vocal fold paralysis who also have other neurologic abnormalities, the clinician should consider the possibility of CMT as the cause.

Charcot-Marie-Tooth Disease↗
PubMed1980

Foot surgery in Charcot-Marie-Tooth disease.

The preliminary study dealing with surgical treatment of foot deformity associated with CMT shows that the peroneal muscle may be functional in CMT but not measurable because of the deformity that it may have helped to create. The transfer of peroneus longus is designed to decrease deforming forces in conjunction with the Jones suspension that elevates the first ray. It assists the weak anterior muscle group. This, in addition to other surgical procedures as referenced, may be of help in correcting the foot deformity of CMT. Prognosis can be affected by the progression of the disease.

Adolescent↗
PubMed2004

Screening of the myelin protein zero gene in patients with Charcot-Marie-Tooth disease.

The myelin protein zero gene (MPZ) coding for the most abundant protein of the peripheral myelin was shown to be mutated in Charcot-Marie-Tooth type 1B disease (CMT1B). Later on MPZ mutations have been shown in axonal type of CMT (CMT2). Recently three novel MPZ gene mutations were reported in congenital hypomyelinating neuropathy (CHN). In contrast to the previously reported studies, focused on CMT1B disease, we aimed to analyze the coding and promoter sequences of the MPZ gene in a group of patients with three CMT phenotypes i.e.: CMT1, CMT2 and CHN. Over 500 PCR products were screened by single strand conformation polymorphism analysis (SSCP) and heteroduplex analysis (HA). In one CMT2 family we founded the E56K mutation in the MPZ gene and in one CHN patient the T124K substitution was detected. In agreement with previously reported studies we conclude that MPZ gene screening should be performed for wide phenotype spectrum of CMT.

Amino Acid Substitution↗