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At least 559 records · Page 31Linked to original sources
PubMed1997

Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1).

Single-strand conformational polymorphisms (SSCP) of the connexin32 gene were analyzed in 121 patients possibly affected by Charcot-Marie-Tooth (CMT) disease. The 121 patients were selected from 443 possible CMT/HNPP (hereditary neuropathy with liability to pressure palsies) patients based on genetic linkage to Xq13.1, absence of the 17p12 duplication and deletion, and absence of point mutations in PMP22 and P0. We found five new mutations at nucleotides 105 (C-T), 316 (C-G), 321 (C-T), 328 (T-C), and 657 (G-C), and three mutations at nucleotide 126 (C-T), 249 (G-A), and 477 (G-A) previously described in other unrelated families. The nucleotide changes resulted in seven amino-acid substitutions and one premature stop codon.

Adult↗
PubMed1998

Charcot-Marie-Tooth disease: histopathological features of the peripheral myelin protein (PMP22) duplication (CMT1A) and connexin32 mutations (CMTX1).

The two most common subtypes of Charcot-Marie-Tooth (CMT) disease are CMT1A and CMTX1. To determine whether these different genetic entities display different morphological phenotypes we compared sural nerve biopsies of CMT1A patients due to PMP22 duplication with biopsies of CMTX1 patients with proven Connexin32 mutations. In CMT1A nerve biopsies we found a severe reduction in myelinated fiber density, hypermyelination as well as demyelination, and a high percentage of onion bulb formations. CMTX1 nerve biopsies showed significant differences: a higher myelinated fiber density, thinner myelin sheaths, more cluster formations, and only few onion bulb formations. Teased fibers studies in CMT1A patients showed features of demyelination and/or remyelination in almost all fibers. In contrast, teased fibers of CMTX1 patients were uniformly thinly myelinated with 5-10% active axonal degeneration and 15% segmental demyelination. Median nerve motor conduction velocities were significantly faster in CMTX1 patients (31.6+/-5.5 m/s) than in CMT1A patients (18.2+/-6.9 m/s). The possible roles of PMP22 and Connexin32 in the pathogenesis of CMT are discussed.

Adolescent↗
PubMed2000

[X-Linked Charcot-Marie-Tooth disease with a new mutation (Thr191Ala) in the connexin32].

We report a 59-year-old man with X-linked Charcot-Marie-Tooth (CMT) disease and a new point mutation in the connexin32 gene. The patient first noticed mild gait disturbance five years previously. On admission, he exhibited muscle atrophy and weakness in the distal part of both legs, mild muscle atrophy of both hands without weakness, and a minimal reduction of touch sensation in the right dorsal foot. Nerve conduction velocity of the peripheral nerves was diffusely reduced. Electromyography exhibited high-amplitude, long-duration, polyphasic motor unit potentials in the muscles of the extremities. Fibrillation potential and positive sharp wave were present in the affected muscles. Cerebrospinal fluid protein was slightly elevated. The polyneuropathy did not respond to high-dose corticosteroid treatment, and showed very slow progression. His parents were not consanguineous. His father and two sons were healthy, but similar illness (more severe) was suspected in his younger brother. Gene analysis (Southern hybridization) did not reveal any duplication or deletion in the CMT 1 A-REP region. However, a novel mutation (Thr191Ala) was detected in the connexin32. Although more than 160 mutations in the connexin 32 gene have been identified worldwide, approximately ten mutations have so far been reported in Japan. In comparison with X-linked CMT patients with other connexin32 mutations, the present case was characterized by late onset and mild neurological manifestation. Gene analysis provides a useful tool for diagnosing cases with slowly progressive, motor dominant polyneuropathy of unknown origin.

Charcot-Marie-Tooth Disease↗
PubMed1978

Charcot-Marie-Tooth disease: data for genetic counseling relating age to risk.

One hundred and nine individuals from complete sibships at risk for autosomal dominant Charcot-Marie-Tooth (CMT) disease in 15 unrelated families were evaluated by physical examination and motor nerve conduction studies. Penetrance of the gene was 28% in the first decade, but was essentially complete by the middle of the third decade. The average age of onset of symptoms was 12.2 y, with a standard deviation of 7.3. Persons at risk who have no clinical manifestations and who are over age 27 have less than a 3% probability of having inherited the CMT gene.

Adolescent↗
PubMed2005

Mutation analysis of small heat-shock protein 22 gene in Chinese patients with Charcot-Marie-Tooth disease.

OBJECTIVE: To study the characteristics of the mutation of small heat-shock protein 22 (HSP22) gene in Chinese patients with Charcot-Marie-Tooth (CMT) disease. METHODS: A CMT2L proband with 423(G--> T) mutation in HSP22 gene had been studied and reported by the present authors. In this study, mutation analysis of HSP22 gene was performed using polymerase chain reaction and DNA direct sequencing in 114 CMT probands. RESULTS: In the 114 CMT probands, a 582(C--> T)(T194T)samesense mutation was found in two unrelated families. CONCLUSION: The rate of HSP22 gene mutation in Chinese patients with CMT is as low as 0.87%(1/115).

Asian People↗
PubMed1995

[Charcot-Marie-Tooth disease. Study of sural nerve biopsy in 41 patients].

We studied the pathological findings of sural nerve biopsy in 41 patients with Charcot-Marie-Tooth (CMT) disease. They were previously classified by the median motor conduction velocity (MCV) in two types. Type I (demyelinating) with 9 patients and type II (axonal) with 32 cases. In type I we found loss of myelinated fibers (unimodal histogram), demyelinated and remyelinated axons with numerous onion bulb formations. In one case there was thickness of myelin with thin axons (axonal atrophy). In type II there were seven patients with normal sural nerve biopsy. In 25 cases there were mild to severe loss of myelinated fibers. In 5 patients the number of myelinated fibers was increased due to the great regeneration of the axons. The electron microscopic studies in type II showed in a few cases small onion bulbs and in one case axonal atrophy. In type I there was no correlation between clinical severity and the loss of myelinated fibers, but there was relationship between the low MCV and the intensity of myelinated fibers. In type II we did not found any correlation between clinical course, MCV and pathological findings.

Adult↗
PubMed2002

[Charcot-Marie-Tooth disease associated with a pyramidal syndrome: clinical, electrophysiological, and neuropathological study of neuro-muscular biopsies in 14 cases].

A rare clinical form of Charcot-Marie-Tooth (CMT) disease, estimated at less than 5% by a good many authors, it remains unknown at the neuropathological and genetic level. The prevalance of this form in our areas estimated at 16% allows to discuss its clinical, electrophysiological and neuropathological particularities. To define clinical electrophysiological and neuropathological criteria of neuromuscular biopsies of CMT associated with a pyramidal syndrome. forteen patients presenting a CMT disease associated with a pyramidal sign, sometimes sensory troubles pes cavus and ear and at times eye trouble, an electrophysiological exploration allowed to measure the motor conduction velocity (MCV) of the median nerve and the external popliteal sciatic. A neuromuscular biopsy on the peroneal nerve was performed in all patients with their free consent or that of their parents or relatives when necessary. Semi-thin cuttings coloured with toluidine hue were examined under photonic microscope with x10, x40, and x100 enlargements and the study of the dissociated nervous fibres (teasing) was curried out. The 14 patients aged 8 to 37 years (average 23+/-0.5). 7 females and 7 males clinically presented a CMT disease with a pyramidal syndrome Sensory troubles existed in 8 cases, a lesion of the cranial nerve was observed in 8 cases (II and VII) parental consanguinity existed also in 9 cases. The MCV of the median nerve were more > 40 m/sec in 8 cases whereas in 2 cases they were < 40) m/sec. All muscles showed an atrophy of neurogenous type. In 4 cases the nerves were histologically normal on semi-thin cuttings and < >. There were axonal degeneration lesions in 2 cases only and demyelinating lesions in 6 cases. No onion bulb lesion as observed nor images of regeneration (cluster). The CMT disease associated with a pyramidal syndrome is a clinical entity which constitutes a heterogenous group at the clinical, electrophysiological and anatomo-pathological and probably genetic level. A dominant autosomal transmission and some recessive forms were isolated but the chromosomic anomaly involved remains to be defined.

Adolescent↗
PubMedDate not supplied

Ultrastructural findings in the peripheral nerve in a family with the intermediate form of Charcot-Marie-Tooth disease.

The authors describe here the ultrastructural findings in peripheral nerve biopsies from two affected members of a family with a previously undescribed intermediate form of Charcot-Marie-Tooth (CMT) disease. We found prevalent demyelinating features such as onion bulbs and myelin splits with uncompacted and irregularly enlarged lamellae, mostly at the Schmidt-Lantermann incisures and in paranodal region. Signs of a chronic axonopathy such as regeneration clusters, large fiber loss, Büngner's bands and unmyelinated fiber involvement were also seen. The presence of both demyelinating and axonal findings, not found in other genetically determined types of CMT disease, confirms the hypothesis of a new nosographic entity of intermediate type.

Adult↗
PubMed2001

Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy.

Charcot-Marie-Tooth type 4B (CMT4B), an autosomal recessive demyelinating neuropathy characterized by focally folded myelin sheaths in the peripheral nerve, has been associated with mutations in the gene encoding myotubularin-related protein 2, MTMR2, on chromosome 11q22. To investigate whether mutations in MTMR2 may also cause different forms of CMT, we screened 183 unrelated patients with a broad spectrum of CMT and related neuropathies using denaturing high-performance liquid chromatography. We identified four frequent and three rare exonic variants; two of the rare variants were identified in two unrelated patients with congenital hypomyelinating neuropathy and not in the normal controls. Our results suggest that loss-of-function mutations in MTMR2 are preferentially associated with the CMT4B phenotype.

Amino Acid Substitution↗
PubMed2006

Left ventricular hypertrabeculation/noncompaction with PMP22 duplication-based Charcot-Marie-Tooth disease type 1A.

A 50-year-old women with Charcot-Marie-Tooth hereditary neuropathy type 1A due to the PMP22 duplication on chromosome 17p11.2-12 developed a left bundle branch block and progressive dilatation of the left ventricle since age 40 years and recurrent heart failure since age 44 years. At age 50 years left ventricular hypertrabeculation/noncompaction was first recognized on transthoracic echocardiography. A possible causal relation between the cardiac abnormalities and the PMP22 duplication is discussed.

Bundle-Branch Block↗
PubMed1982

A family study of Charcot-Marie-Tooth disease.

Forty-seven cases of Charcot-Marie-Tooth peripheral neuropathy were seen in 18 families within a defined area, with a disease prevalence of 1 in 16 400. Maximum motor nerve conduction velocity (MNCV) measurement divided off two types of neuropathy (MNCV less than 30 ms-1 and greater than 40 ms-1), but did not distinguish clinically affected from normal in families whose probands had median nerve MNCV greater than 40 ms-1. In the neuronal type of neuropathy ((MNCV greater than 40 ms-1) two genotypes were seen, autosomal dominant (ADN) and autosomal recessive (ARN). Most cases with the demyelinating type (MNCV less than 30 ms-1) had an autosomal dominant genotype (ADD) but one family had possible X linked recessive inheritance (XRD). In one autosomal dominant family a father and son had different electrophysiological types of neuropathy. Peroneal muscle weakness was progressive with age in the ADD genotype and certain patterns of phenotypic features were associated with the major genotypes. Age of onset was not found to be reliable in distinguishing genotypes. Care is needed when counselling isolated male cases because of asymptomatic affected females in the autosomal dominant genotypes, and the possibility of ill defined X linked forms.

Adolescent↗
PubMed1997

Advances in Charcot-Marie-Tooth disease research: cellular function of CMT-related proteins, transgenic animal models, and pathomechanisms. The European CMT Consortium.

The First Workshop of the European Consortium on Charcot-Marie-Tooth (CMT) disease brought together neuroscientists, molecular and cell biologists, neuropathologists, neurologists, and geneticists with a common interest in the understanding of the fundamental mechanisms that underlie the pathogenesis of CMT. The interdisciplinary group of 25 expert scientists discussed recent advances in (i) molecular genetics and histopathology of CMT, (ii) development of suitable animal models, (iii) understanding of the cellular function of CMT-related proteins, and (iv) studies using nerve biopsies from CMT patients. In this minireview, we summarize the key findings presented and discuss their impact on CMT research.

Animals↗