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PubMed1992

Duplication of part of chromosome 17 is commonly associated with hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease type 1).

Hereditary motor and sensory neuropathy type I (HMSNI), also known as Charcot-Marie-Tooth disease type 1 (CMT1), has been shown to be genetically heterogeneous. A major gene maps to chromosome 17 (CMT1A). A set of loci, D17S122, D17S125, and D17S124, show tight linkage to the CMT1A locus, and a duplication of D17S122 has been detected in some families. We show that the locus D17S122 is duplicated in affected individuals from 7 informative families with HMSNI. The duplication was demonstrated either by differences in hybridization densities between two bands of a restriction fragment length polymorphism or by the presence of all three alleles. No normal individual had the duplication. A single recombinant exists between the MspI polymorphism of D17S122 and the duplicated band, suggesting that the duplication is of considerable size. Patients with HMSN type II do not show the duplication. These findings will have considerable impact on the diagnosis of chronic demyelinating neuropathies, in patients with or without similarly affected relatives.

Charcot-Marie-Tooth Disease↗
PubMed1994

Spinal deformity in Charcot-Marie-Tooth disease.

STUDY DESIGN: This retrospective study reviewed 100 children with clinically and electrodiagnostically proven Charcot-Marie-Tooth disease (CMTD). OBJECTIVE: To determine the incidence of spinal deformity in children with CMTD. SUMMARY OF BACKGROUND DATA: A 10% incidence of kyphoscoliosis has been reported. METHODS: All charts and electrodiagnostic studies were reviewed to confirm that CMTD diagnostic criteria were met. Existing radiographs on 89 children were available. Cobb angles were measured and deformity was defined as scoliosis > or = 10 degrees and kyphosis > 40 degrees. RESULTS: Thirty-seven of 89 CMTD children had spinal deformity. There was scoliosis in 20, kyphoscoliosis in 14, and kyphosis in 3. In children with radiographs taken at maturity, 50% had deformity. The most common scoliotic pattern was a thoracic curve with convexity in either direction. Spinal deformity is more likely in female and Type I patients. CONCLUSIONS: This study found an incidence of 37%-50% spinal deformity in children with CMTD, with female and Type I patients at greatest risk. However, the deformity rarely required treatment.

Adolescent↗
PubMed1996

Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin.

Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy. Sporadic cases of CMT have been described since the earliest reports of the disease. The most frequent form of the disorder, CMT1A, is associated with a 1.5-Mb DNA duplication on chromosome 17p11.2, which segregates with the disease. In order to investigate the prevalence of de novo CMT1A duplications, this study examined 118 duplication-positive CMT1A families. In 10 of these families it was demonstrated that the disease had arisen as the result of a de novo mutation. By taking into account the ascertainment of families, it can be estimated that > or = 10% of autosomal dominant CMT1 families are due to de novo duplications. The CMT1A duplication is thought to be the product of unequal crossing over between parental chromosome 17 homologues during meiosis. Polymorphic markers from within the duplicated region were used to determine the parental origin of these de novo duplications in eight informative families. Seven were of paternal and one of maternal origin. This study represents the first report of a de novo duplication with a maternal origin and indicates that it is not a phenomenon associated solely with male meioses. Recombination fractions for the region duplicated in CMT1A are larger in females than in males. That suggests that oogenesis may be afforded greater protection from misalignment during synapsis, and/or that there may be lower activity of those factors or mechanisms that lead to unequal crossing over at the CMT1A locus.

Charcot-Marie-Tooth Disease↗
PubMed1992

Linkage studies in Charcot-Marie-Tooth disease type 2: evidence that CMT types 1 and 2 are distinct genetic entities.

Charcot-Marie-Tooth disease (CMT), the most common inherited peripheral neuropathy, is a progressive sensorimotor neuropathy divided into types 1 and 2 based upon electrophysiologic and neuropathologic differences. The more common autosomal dominant form of CMT type 1 (hereditary motor and sensory neuropathy type I) is genetically heterogeneous, with genes located on chromosomes 1 (type 1B) or 17 (type 1A). However, no locus for CMT type 2 is known. We have performed linkage studies on three large multigenerational CMT type 2 families using probes from chromosome 1 and chromosome 17, which span their respective linkage regions. Multipoint analysis of the chromosome 17 markers excluded linkage over an area of 45 cM--15 cM proximal and 30 cM distal to the region containing CMT type 1A. Multipoint analysis of the chromosome 1 markers exclude linkage 15 cM proximal and 20 cM distal to FC-gamma-RII in the region of CMT 1B. These data indicate that CMT type 2 is genetically distinct from CMT type 1.

Adolescent↗
PubMedDate not supplied

Bilateral abductor vocal cord paralysis in Charcot-Marie-Tooth disease.

This report descirbes the unusual association of bilateral abductor vocal cord paralysis (BAbVCP) and Charcot-Marie-Tooth disease in a boy and his natural mother who have been followed for eight years. The boy initially presented with life-threatening respiratory distress at age ten years; BAbVCP was documented by direct laryngoscopy. Mirror laryngoscopy confirmed BAbVCP in the mother. Neurological diagnosis was made by history, physical examination, electromyography, and nerve conduction velocity studies. The BAbVCP may represent an additional genetic marker within the spectrum of heredodegenerative disorders. Of clinical importance is examination of voice and respiratory symptomatology of patients with heredodegenerative diseases and neurological work-up of patients with familial vocal cord paralysis. Further genetic and clinical studies of X cranial nerve involvement in heredodegenerative disorders are warranted.

Adolescent↗
PubMed2005

Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease.

Mutations in GDAP1 lead to severe forms of the peripheral motor and sensory neuropathy, Charcot-Marie-Tooth disease (CMT), which is characterized by heterogeneous phenotypes, including pronounced axonal damage and demyelination. We show that neurons and Schwann cells express ganglioside-induced differentiation associated protein 1 (GDAP1), which suggest that both cell types may contribute to the mixed features of the disease. GDAP1 is located in the mitochondrial outer membrane and regulates the mitochondrial network. Overexpression of GDAP1 induces fragmentation of mitochondria without inducing apoptosis, affecting overall mitochondrial activity, or interfering with mitochondrial fusion. The mitochondrial fusion proteins, mitofusin 1 and 2 and Drp1(K38A), can counterbalance the GDAP1-dependent fission. GDAP1-specific knockdown by RNA interference results in a tubular mitochondrial morphology. GDAP1 truncations that are found in patients who have CMT are not targeted to mitochondria and have lost mitochondrial fragmentation activity. The latter activity also is reduced strongly for disease-associated GDAP1 point mutations. Our data indicate that an exquisitely tight control of mitochondrial dynamics, regulated by GDAP1, is crucial for the proper function of myelinated peripheral nerves.

Animals↗
PubMed2000

[Charcot Marie Tooth disease: exacerbation in pregnancy].

We report a case which illustrates the fact that an exacerbation of Charcot Marie Tooth disease, while rare, is possible during pregnancy. Moreover our case suggests the possibility of a positive effect of corticosteroids on such a complication, with an improvement of clinical symptoms as well as of electrophysiological results.

Adrenal Cortex Hormones↗
PubMed2000

Hemizygous mutation of the peripheral myelin protein 22 gene associated with Charcot-Marie-Tooth disease type 1.

We studied a female patient who presented with autosomal recessive or sporadic Charcot-Marie-Tooth disease type 1 (CMT1). We found that she had a 1.5-megabase deletion in chromosome 17p11.2-p12 containing the peripheral myelin protein 22 gene (PMP22) and an Arg157Gly mutation of PMP22. Hemizygous mutation of PMP22 should be considered in patients with autosomal recessive CMT1 or with severe hereditary neuropathy with liability to pressure palsy.

Charcot-Marie-Tooth Disease↗
PubMed1979

Pyruvate oxidation in Charcot-Marie-Tooth disease.

Significant differences were found in pyruvate oxidation of disrupted skin fibroblasts from patients with Charcot-Marie-Tooth disease (CMT) or neuromuscular disease controls and normal controls, but there was a similar oxidative defect in both disease groups. "Heritable heterogeneity in situ" and additional enzyme faults may explain the normal activity of pyruvate dehydrogenase in some explants, and the lack of correlation between enzyme activity and CMT symptoms. Since experimental, histochemical, and microscopic studies support the concept of localized hypoxia in perineural or neural cells in CMT, the peripheral location of the defect suggests an inherited susceptibility to environmental influences in these cells.

Adult↗
PubMed1999

Charcot-Marie-Tooth disease type 2 with restless legs syndrome.

In a series of 44 consecutive patients with Charcot-Marie-Tooth disease (CMT), we found restless legs syndrome (RLS) in 10 of 27 CMT type 2 (CMT2) patients (37%) and in none of 17 CMT type 1 patients (p = 0.004). In the CMT2 patients, RLS was associated with positive sensory symptoms (10/10 versus 10/17; p = 0.026). This finding supports the view that a disorder of sensory input plays a role in the pathogenesis of RLS. Symptomatic treatment may benefit these patients.

Aged↗
PubMed1999

Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene.

A French family had Charcot-Marie-Tooth disease type 2 (CMT2) which was characterised by late onset of peripheral neuropathy involvement, Argyll Robertson-like pupils, dysphagia, and deafness. Electrophysiological studies and nerve biopsy defined the neuropathy as axonal type. Genetic analysis of myelin protein zero (MPZ) found a mutation in codon 124 resulting in substitution of threonine by methionine. One of the patients, presently 30 years old, showed only Argyll Robertson-like pupils as an objective sign but no clinical or electrophysiological signs of peripheral neuropathy.

Adolescent↗
PubMed1994

X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms.

X linked dominant Charcot-Marie-Tooth disease (CMTX1) has previously been localised to Xq13-21. Fifteen families were studied using 12 highly informative polymorphisms in the pericentric region of the X chromosome. Phase known recombinations in these families localise the X linked dominant CMT gene to the region distal to DXS106 (Xq11.2-12) and proximal to DXS559 (Xq13.1). These markers flank approximately 2 to 3 Mb of DNA to which GJB1 and CCG1 have already been mapped. A recent report of mutations in the GJB1 gene in subjects with CMTX1 makes this a strong candidate gene.

Cell Cycle↗
PubMed2003

Relationship between periodontal disease, tooth loss, and carotid artery plaque: the Oral Infections and Vascular Disease Epidemiology Study (INVEST).

BACKGROUND AND PURPOSE: Chronic infections, including periodontal infections, may predispose to cardiovascular disease. The present study investigates the relationship of periodontal disease and tooth loss with subclinical atherosclerosis. METHODS: We enrolled 711 subjects with a mean age of 66+/-9 years and no history of stroke or myocardial infarction in the Oral Infections and Vascular Disease Epidemiology Study. Subjects received a comprehensive periodontal examination, extensive in-person cardiovascular disease risk factor measurements, and a carotid scan using high-resolution B-mode ultrasound. Regression models were adjusted for conventional risk factors (age, sex, smoking, diabetes, systolic blood pressure, low- and high-density lipoprotein cholesterol, race-ethnicity, education, physical activity) and markers of cultural background, healthy lifestyle, and psychosocial health. RESULTS: Measures of both current and cumulative periodontitis became more severe as tooth loss increased. A significant association was observed between tooth loss levels and carotid artery plaque prevalence. Among those with 0 to 9 missing teeth, 46% had carotid artery plaque, whereas among those with >or=10 missing teeth, carotid artery plaque prevalence was approximately 60% (P<0.05). CONCLUSIONS: Our data suggest that tooth loss is a marker of past periodontal disease in this population and is related to subclinical atherosclerosis, thereby providing a potential pathway for a relationship with clinical events.

Age Distribution↗
PubMed2005

Phrenic nerve involvement in Charcot-Marie-Tooth disease.

Diaphragmatic weakness in Charcot-Marie-Tooth (CMT) disease may be more common than generally acknowledged. Recognizing diaphragmatic weakness in a patient with CMT is important since recognition of this process may help explain the symptoms of breathlessness and orthopnea, as well as the development of hypercarbia. Although most patients with CMT have a normal lifespan, the subset of patients with diaphragmatic weakness may be at a higher risk of pulmonary morbidity and early mortality. Elevation of one or both hemidiaphragms on chest roentgenogram should raise the suspicion of diaphragmatic dysfunction and prompt further investigation.

Age Factors↗
PubMed1987

Activated T cells in type I Charcot-Marie-Tooth disease: evidence for immunologic heterogeneity.

Common recognized variability in the familial peripheral neuropathy, type I Charcot-Marie-Tooth disease (CMT I), led to an examination of cell-mediated immune responses in 23 CMT I patients. Increased numbers of activated T cells were found in the peripheral blood of 14 (61%) patients using fluorescent monoclonal Ta1 antibody as quantitated by flow cytometry. Altered immunoregulation was also suggested by increased levels of prostaglandin-mediated lymphocyte suppression. In the other nine CMT I patients, immune responses were normal. Lack of a relationship between Ta1 expression and CMT clinical symptoms, but with consistency within six CMT families, support the concept of immunologic heterogeneity in type I CMT with a possible genetic component.

Adolescent↗
PubMed2005

[A pedigree of Charcot-Marie-Tooth disease type 4F (Periaxin mutation)].

We report a 51-year-old man genetically diagnosed as Charcot-Marie-Tooth disease type 4F. The patient was the first child of healthy, consanguineous parents. He had two sisters and one of them showed similar but milder symptoms. He had gait disturbance since childhood. Then he noticed muscle weakness of his hands at the age of early forties, and more difficulties in gait at the age of late forties. On examination at age 51, he showed absence of all deep tendon reflexes, weakness of the hand and distal leg muscles, pes cavus and decreased sensitivity to touch and vibration in the lower extremities. Electrophysiological studies of the median nerve showed delayed motor nerve conduction velocity and undetectable sensory nerve action potentials. The histology of his sural nerve revealed moderate loss of large myelinated fibers and the diameters of residual fibers shifted to small shown as size-frequency histogram. Many fibers are thinly myelinated and some of the Schwann cells looked as wrapping around the myelinate fibers with their processes. On gene analyses, we identified an Arg 1070 Stop homozygous mutation in the Periaxin, known to be a causative gene for CMT type 4F. Based on these observations, we emphasized that broad genetic analyses are necessary for diagnosis of CMT disease, including so far unidentified mutations among the Japanese populations.

Charcot-Marie-Tooth Disease↗
PubMed1997

Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance.

The X-linked dominant form of Charcot-Marie-Tooth disease (CMTX) is associated with mutations in a gene coding for the gap-junction protein connexin 32 (Cx32). We screened 32 CMT families with a pedigree pattern suggestive of X-linked inheritance for the presence of mutations in the coding region of Cx32 by direct sequencing. Five of the families had a CMT1 diagnosis, 24 had a CMT2 diagnosis and 3 patients had an unspecified CMT. Eight families with a Cx32 point mutation were detected. Five different mutations (four of them published previously) were found in six CMT2 families and one mutation was found in a sporadic CMT1 male patient. One of the mutations, Met194Val, is among the first described in the fourth transmembrane domain of Cx32. Two CMT2 families and the sporadic CMT1 patient had the same mutation, Arg22Gln. An additional, previously unpublished mutation, Arg75Trp, was found in a male patient with unspecified CMT, who subsequently was verified to have a variant Klinefelter syndrome with 48,XXYY karyotype. Our findings show the difficulty in distinguishing CMTX patients from CMT1 and CMT2 patients, and they emphasize the need for Cx32 mutation screening in families previously diagnosed with CMT2.

Charcot-Marie-Tooth Disease↗
PubMed1999

Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q)

OBJECTIVE: To report a family with X-linked Charcot-Marie-Tooth disease (CMTX) with proven connexin 32 (Cx32) mutation associated with deafness. METHODS: Twelve members of a CMTX family were examined clinically. Electromyography and sensory and motor conduction studies were performed in three men, two women, and a 7-year-old boy. Audiometric testing was carried out in the three men, one woman, and an 8-year-old girl. Molecular genetic analysis was performed in six men and five women. RESULTS: The three men and the 7-year-old boy had the usual sensorimotor deficit and pronounced reduction of motor nerve conduction velocity. A 15-year-old boy was asymptomatic and had only areflexia. The women had impairment of vibratory sensation and slight slowing of nerve conduction velocities. Sensorineural deafness was observed in the three men and in an 8-year-old girl without any motor or sensory deficit. Molecular genetic analysis revealed a new missense mutation located in codon 142 of the Cx32 gene leading to the substitution of an arginine by a glutamine. CONCLUSION: CMTX due to Cx32 mutations often shows interfamilial and intrafamilial phenotypic variation, which is also the hallmark of this family. The sensorineural deafness observed in this family suggests that Cx32 could play an important role in the auditory pathway.

Adult↗