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PubMed1995

New functions for gap junctions.

The most significant finding of the past year in gap junction research has been the association of connexin defects with human diseases. Connexin32 mutations cause X-linked Charcot-Marie-Tooth disease, a demyelinating peripheral neuropathy. Mutations in connexin43 may underlie cardiac malformations in visceroatrial heterotaxia syndromes. Genetic approaches and gene targeting have provided new insights, but also raise new questions concerning connexin function, the significance of connexin diversity and the regulation of intercellular communication.

Animals↗
PubMed2003

Distinct elements of the peripheral myelin protein 22 (PMP22) promoter regulate expression in Schwann cells and sensory neurons.

Genetic disease mechanisms in the demyelinating peripheral neuropathies Charcot-Marie-Tooth disease type 1A (CMTA) and hereditary neuropathy with liability to pressure palsies (HNPP) as well as transgenic animals with altered PMP22 gene dosage revealed that alterations in PMP22 gene expression have profound effects on the development and maintenance of peripheral nerves. Consequently, the regulation of PMP22 is a crucial aspect in understanding the function of this protein in health and disease. In this study, we dissected and analyzed different cis-acting elements in the 5'-flanking region of the Pmp22 gene in vivo. We found two separate elements that contribute to different aspects of Pmp22 expression. The first is located 5' distally to promoter 1 and is involved in gene regulation during late phases of myelination in development ["late myelination Schwann cell-specific element" (LMSE)] and in remyelination after injury. The second element was identified upstream of promoter 2 and guides Pmp22 expression in sensory neurons. These results suggest that multiple distinct signaling pathways regulating Pmp22 expression in myelination as well as in neurons converge on distinct segments of the PMP22 promoter region. The underlying molecular mechanisms are likely to be crucially involved in the maintenance of the integrity of myelinated peripheral nerves.

5' Flanking Region↗
PubMed2000

A new de novo mutation of the connexin-32 gene in a patient with X-linked Charcot-Marie-Tooth type 1 disease.

We report a 26-year-old Italian man with X-linked Charcot-Marie-Tooth (CMT) disease type 1 (CMT-X1) and a negative family history for neuromuscular diseases. Clinical and electrophysiological examinations of the patient's mother and siblings were normal. Molecular analysis by polymerase chain reaction--single-strand conformation polymorphism (PCR-SSCP) on genomic DNA from the patient and all members of his family revealed a C-to-T transition in codon 8 of exon 2 of the connexin-32 (Cx32) gene on the X chromosome only in the patient. This transition in the 5'-coding region, resulting in a Thr-Ile substitution, is likely to be the cause of CMT phenotype in our patient, and it represents a new de novo mutation of the Cx32 gene.

Adult↗
PubMed2006

Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene.

Charcot-Marie-Tooth type 4F disease (CMT4F) is an autosomal recessive neuropathy caused by mutations in the PRX gene. To date, only seven mutations have been identified in the PRX gene. In this study, the authors report a novel S399fsX410 mutation in the PRX gene and its effects at the protein level, which was identified in an 8-year-old patient with early-onset CMT disease.

Age of Onset↗
PubMed2002

Periaxin mutations cause a broad spectrum of demyelinating neuropathies.

Previous studies have demonstrated that apparent loss-of-function mutations in the periaxin gene cause autosomal recessive Dejerine-Sottas neuropathy or severe demyelinating Charcot-Marie-Tooth disease. In this report, we extend the associated phenotypes with the identification of two additional families with novel periaxin gene mutations (C715X and R82fsX96) and provide detailed neuropathology. Each patient had marked sensory involvement; two siblings with a homozygous C715X mutation had much worse sensory impairment than motor impairment. Despite early disease onset, these siblings with the C715X mutation had relatively slow disease progression and adult motor impairment typical of classic demyelinating Charcot-Marie-Tooth neuropathy. In contrast, a patient with the homozygous R82fsX96 mutation had a disease course consistent with Dejerine-Sottas neuropathy. The neuropathology of patients in both families was remarkable for demyelination, onion bulb and occasional tomacula formation with focal myelin thickening, abnormalities of the paranodal myelin loops, and focal absence of paranodal septate-like junctions between the terminal loops and axon. Our study indicates a prominent sensory neuropathy resulting from periaxin gene mutations and suggests a role for the carboxyl terminal domain of the periaxin protein.

Adult↗
PubMed2005

Tooth loss is independently associated with the risk of acquired aortic valve sclerosis.

BACKGROUND: Several studies have shown that periodontal disease and atherosclerosis are associated. Aortic valve sclerosis (AVS) represents the sum of processes that are similar to the development of atherosclerosis. The present analysis was performed to investigate associations between periodontal disease, tooth loss, and AVS. METHODS: The population-based SHIP was conducted in northeast Germany. A study population of 2341 individuals aged > or =45 years was available for the present analysis. Aortic valve sclerosis was determined by echocardiography. Periodontal status was assessed by attachment loss and tooth loss. RESULTS: The prevalence of AVS was 29.9%. Logistic regression analyses did not reveal attachment loss as an independent risk factor for AVS. However, a reduced number of teeth was independently associated with AVS. Other risk factors for AVS were age, history of myocardial infarction, body mass index, pulse pressure, plasma fibrinogen and lipoprotein (a) levels, and the use of drugs that act on the renin-angiotensin system. CONCLUSION: A reduced number of teeth was independently associated with the risk of AVS. This finding further strengthens the link between oral health and cardiovascular disorders.

Adult↗
PubMed2006

Molecular basis of human dentin diseases.

In recent years, substantial progress has been made regarding the molecular etiology of human structural tooth diseases that alter dentin matrix formation. These diseases have been classified into two major groups with subtypes: dentin dysplasia (DD) types I and II and dentinogenesis imperfecta (DGI) types I-III. Genetic linkage studies have identified the critical loci for DD-II, DGI-II, and DGI-II to human chromosome 4q21. Located within the common disease loci for these diseases is cluster of dentin/bone genes that includes osteopontin (OPN), bone sialoprotein (BSP), matrix extracellular phosphoglycoprotein (MEPE), dentin matrix protein 1 (DMP1), and dentin sialophosphoprotein (DSPP). To date, only mutations within dentin sialophosphoprotein have been associated with the pathogenesis of dentin diseases including DGI types-II and -III and DD-II. In this article, we overview the recent literature related to these dentin genetic diseases, their clinical features, and molecular pathogenesis.

Chromosome Mapping↗
PubMed1992

Feline endodontics.

One misconception in veterinary medicine is that fractured teeth do not need to be treated, or treatment should consist of extraction only. Two common causes of endodontic disease in the cat are fractures and secondary to cervical line lesions. Endodontic technique can be useful in returning a diseased tooth to normal, pain-free function. Conventional endodontics can be used to treat fractured canine teeth or partially destroyed molars. Surgical endodontics is useful in cases in which an apical seal cannot be established by conventional methods. Pulp capping can preserve a vital tooth as an alternative to extraction.

Animals↗
PubMed1996

Poor oral health and coronary heart disease.

A few recent studies have shown associations between poor oral health and coronary heart disease (CHD). The objective of this study was to examine the incidence of CHD in relation to number of teeth present and periodontal disease, and to explore potential mediators of this association, in a prospective cohort study. This study is a part of the ongoing Health Professionals Follow-Up Study (HPFS). Participants included a US national sample of 44,119 male health professionals (58% of whom were dentists), from 40 to 75 years of age, who reported no diagnosed CHD, cancer, or diabetes at baseline. We recorded 757 incident cases of CHD, including fatal and non-fatal myocardial infarction and sudden death, in six years of follow-up. Among men who reported pre-existing periodontal disease, those with 10 or fewer teeth were at increased risk of CHD compared with men with 25 or more teeth (relative risk = 1.67; 95% confidence interval, 1.03 to 2.71), after adjustment for standard CHD risk factors. Among men without pre-existing periodontal disease, no relationship was found (relative risk = 1.11; 95% confidence interval, 0.74 to 1.68). The associations were only slightly attenuated after we controlled for dietary factors. No overall associations were found between periodontal disease and coronary heart disease. Tooth loss may be associated with increased risk of CHD, primarily among those with a positive periodontal disease history; diet was only a small mediator of this association.

Adult↗
PubMed2003

Neurofilaments and neurological disease.

Neurofilaments are one of the major components of the neuronal cytoskeleton and are responsible for maintaining the calibre of axons. They are modified by post-translational changes that are regulated in complex fashions including by the interaction with neighbouring glial cells. Neurofilament accumulations are seen in several neurological diseases and neurofilament mutations have now been associated with Charcot-Marie-Tooth disease, Parkinson's disease and amyotrophic lateral sclerosis. In this review, we discuss the structure, normal function and molecular pathology of neurofilaments.

Animals↗
PubMed1983

A clinico-pathological study of chronic hereditary motor neuropathy.

Forty cases of chronic hereditary motor neuropathy (CHMN) were divided into five categories according to the distribution of muscle atrophy; they were proximal, facioscapulohumeral, bulbospinal, distal and scapuloperoneal forms. Their clinical features and laboratory data were analysed, and muscle biopsies from 32 of them were studied by histological, histochemical and electron microscopical methods. An attempt at quantitative assessment of the histological changes was also made. All muscle biopsies showed a mixture of neurogenic and 'myopathic' changes in varying proportions. They showed more 'myopathic' changes than Werdnig-Hoffmann's disease, amyotrophic lateral sclerosis and other neurogenic atrophies except Charcot-Marie-Tooth disease. There was marked variation in the average number of atrophied muscle fibers contained in grouped atrophy. Frequently, deranged internal structure of the muscle fibres was revealed both by histochemical and electron microscopical methods. Based on the evidence of heterogeneity of CHMN in respect of genetics, clinical features and histological changes, it was speculated that CHMN represents a group of diseases which involves primarily different parts of the motor units.

Adolescent↗
PubMed2002

Overview of neuromuscular disorders affecting respiratory function.

A great many neuromuscular disorders affect respiratory function. This article focuses on neuropathic and myopathic disorders that weaken the diaphragm and respiratory muscles. This discussion gives a general overview and attempts to update the reader on recent pathophysiological insights and developments in therapy. Among the disorders discussed, amyotrophic lateral sclerosis, poliomyelitis, postpolio syndrome, Kennedy syndrome, and spinal muscular atrophy are motor neuron diseases. Brachial plexitis and isolated unilateral or bilateral phrenic neuropathies can also weaken the diaphragm significantly. Peripheral neuropathies affecting respiration are primarily acute disorders such as Guillain-Barré syndrome, porphyria, and critical illness neuropathy, but chronic diseases such as chronic inflammatory demyelinating polyneuropathy (CIDP) and Charcot-Marie-Tooth disease (CMT) can also cause respiratory insufficiency. Disorders of neuromuscular transmission such as Lambert-Eaton syndrome, botulism, and myasthenia gravis often affect respiration. Many muscle diseases also affect pulmonary function, including polymyositis/dermatomyositis, muscular dystrophy, hereditary channel disorders, mitochondrial encephalomyopathies, acid maltase deficiency, and congenital myopathy.

Journal Article↗
PubMedDate not supplied

[Pregnancy and labor in chronic anterior horn lesion].

This is the case of a 35-year old woman who suffers from a chronic form of spinal muscular atrophy and who has successfully completed four pregnancies between 1982 and 1987. After a short discussion of etiology, pathology, heredity and the differential diagnosis we describe the obstetric problems of our patient. The pregnancies were mainly aggravated by recurrent cystitis. In all the four deliveries the patient had to undergo cesarean section followed by severe lung problems. After the third pregnancy the patient had a nephrectomy cause of a pyonephrosis. We could not see an aggravation of the disease at it is described in some cases of Charcot-Marie-Tooth disease or polyneuritis. Three of the four children showed a striking muscular hypotonia post partum that disappeared soon after the neonatal period.

Adult↗
PubMed1994

[Relationship between thermal threshold and population of peripheral nerve fibers].

The relationship skin thermal threshold (TT) and density of both myelinated and unmyelinated fibers were investigated in 12 patients with various peripheral nerve diseases including Crow-Fukase syndrome, carcinomatous neuropathy and Charcot-Marie-Tooth disease. The TT was measured at a site above the medial tibial condyle using a thermal threshold tester. The TT was defined as the threshold at which a slight rise or fall in temperature could be detected. The size of the skin stimulation area was 13.5 cm2, the temperature change rate was 1 degrees C/sec, and the basal temperature was set at 34 degrees C. A sural nerve biopsy was performed and an image processor (IBAS) was used to measure the nerve fiber density. The TT in the patients with peripheral nerve disease was found to be elevated when compared with that of the 74 healthy controls (mean age of 38.1 +/- 13.3 years). Elevation of the TT has an intimate relation to damage of the small myelinated nerve fibers. In conclusion, unmyelinated fibers may play a relatively minor role in conveying thermal sensation.

Adult↗
PubMed2004

Molecular genetics of distal hereditary motor neuropathies.

Inherited peripheral neuropathies comprise a wide variety of diseases primarily affecting the peripheral nervous system. The best-known peripheral neuropathy is Charcot-Marie-Tooth disease (CMT) described in 1886 by J.-M. Charcot, P. Marie and H.H. Tooth. In 1980, A.E. Harding and P.K. Thomas showed that in a large group of individuals with CMT, several only had motor abnormalities on clinical and electrophysiological examination, whereas sensory abnormalities were absent. This exclusively motor variant of CMT was designated as spinal CMT or hereditary distal spinal muscular atrophy, and included in the distal hereditary motor neuropathies (distal HMN). The distal HMN are clinically and genetically heterogeneous and are subdivided according to the mode of inheritance, age at onset and clinical evolution. Since the introduction of positional cloning, 12 chromosomal loci and seven disease-causing genes have been identified for autosomal dominant and recessive distal HMN. Most of the genes involved have housekeeping functions, as in RNA processing, translation synthesis, glycosylation, stress response, apoptosis, but also axonal trafficking and editing. Functional characterization of the mutations will help to unravel the cellular processes that underlie the specificity of motor neuropathies leading to neurogenic muscular atrophy of distal limb muscles. Here we review the recent progress of the molecular genetics of distal HMN and discuss the genes implicated.

Genetic Linkage↗
PubMed1990

Critical review of gangliosides and thyrotropin-releasing hormone in peripheral neuromuscular diseases.

The lack of effective therapy for many of the chronic neuromuscular diseases such as amyotrophic lateral sclerosis, hereditary motor sensory neuropathy (Charcot-Marie-Tooth disease), spinocerebellar degenerations and idiopathic polyneuropathy has led to a search for substances that may stimulate peripheral nerve regeneration. Two such agents that have been proposed are gangliosides (mixed purified bovine brain gangliosides, Cronassial) and thyrotropin releasing factor (TRH). Studies on both of these agents were initially reported with enthusiasm to be successful, but later double-blind controlled studies have failed to confirm these findings. This review provides critical analysis of the designs of studies of potentially effective agents in chronic neuromuscular diseases, and emphasizes the power of the placebo response, and the importance of designing placebos which are indistinguishable from the trial medication other than in the active effect.

Chronic Disease↗
PubMed2005

Neuromuscular implications in left ventricular hypertrabeculation/noncompaction.

This review focuses on recent advances in the association between left ventricular hypertrabeculation/noncompaction (LVHT), a form of unclassified cardiomyopathy, and neuromuscular disorders (NMD). So far, LVHT has been found in single patients with dystrophinopathy, dystrobrevinopathy, laminopathy, zaspopathy, myotonic dystrophy, infantile glycogenosis type II (Pompe's disease), myoadenylate-deaminase deficiency, mitochondriopathy, Barth syndrome, Friedreich ataxia, and Charcot-Marie-Tooth disease. Most frequently LVHT is found in patients with Barth syndrome and mitochondrial disorders. The prevalence of LVHT in NMD patients is not known. On the contrary, NMD can be detected in up to four fifths of the patients with LVHT. Because LVHT is associated with an increased risk of rhythm abnormalities and heart failure, it is essential to detect LVHT as soon as possible. Because of adequate therapeutic options, all patients with NMD should undergo a comprehensive cardiological examination as soon as their neurological diagnosis is established. In reverse, all patients with LVHT should undergo a comprehensive neurological investigation following the detection of LVHT.

Heart Defects, Congenital↗
PubMed2005

The global burden of oral diseases and risks to oral health.

This paper outlines the burden of oral diseases worldwide and describes the influence of major sociobehavioural risk factors in oral health. Despite great improvements in the oral health of populations in several countries, global problems still persist. The burden of oral disease is particularly high for the disadvantaged and poor population groups in both developing and developed countries. Oral diseases such as dental caries, periodontal disease, tooth loss, oral mucosal lesions and oropharyngeal cancers, human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/AIDS)-related oral disease and orodental trauma are major public health problems worldwide and poor oral health has a profound effect on general health and quality of life. The diversity in oral disease patterns and development trends across countries and regions reflects distinct risk profiles and the establishment of preventive oral health care programmes. The important role of sociobehavioural and environmental factors in oral health and disease has been shown in a large number of socioepidemiological surveys. In addition to poor living conditions, the major risk factors relate to unhealthy lifestyles (i.e. poor diet, nutrition and oral hygiene and use of tobacco and alcohol), and limited availability and accessibility of oral health services. Several oral diseases are linked to noncommunicable chronic diseases primarily because of common risk factors. Moreover, general diseases often have oral manifestations (e.g. diabetes or HIV/AIDS). Worldwide strengthening of public health programmes through the implementation of effective measures for the prevention of oral disease and promotion of oral health is urgently needed. The challenges of improving oral health are particularly great in developing countries.

Aged↗