[Tooth diseases. Tooth and periodontal diseases].
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Nursing, Practical↗
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[Dental pathology from extra-dental causes. Acquired visceral tooth diseases and prenatal tooth diseases].
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Chronic Disease↗
A case of Charcot-Marie-Tooth disease mimicking Friedreich's ataxia: is there any association between friedreich's ataxia and Charcot-Marie-Tooth disease?
The authors report a case of Charcot-Marie-Tooth disease that mimicked Friedreich's ataxia and featured impaired tendon reflexes in the limbs, incoordination mimicking cerebellar disease in the extremities, extensor plantar responses on both sides, bilateral foot deformity, imparied position sense in the toes, absent vibratory sense in the distal parts of the legs and minimal distal weakness with wasting. Motor conduction velocity in the upper limbs was substantially reduced. Other cases similar in nature reported in the literature resemble spino-cerebellar degeneration in general, and Friedreich's ataxia, in particular. It is emphasized that the natural history, EMG, motor conduction velocity studies and examination of other affected members of the family permit the correct diagnosis to be made in such cases. It is also emphasized that patients similar to the one reported here may also resemble, and should be differentiated from, cases of familial dorsal column ataxia (Biemond type). Stress is put upon the fact that when Charcot-Marie-Tooth disease mimicks spino-cerebellar degeneration, substantial slowing of motor conduction in the upper limbs is generally sufficient to establish the diagnosis. The relation between Friedreich's ataxia an Charcot-Marie-Tooth disease is reviewed and it is concluded that these two disorders are distinct clinical and pathological entities.
Adolescent↗
An autoradiographic study of muscular dystrophy, motor neuron disease and Charcot-Marie-Tooth disease.
The autoradiographic findings using tritiated leucine are described in muscle biopsy material from five patients with progressive muscular dystrophy (P.M.D.), three with motor neuron disease (M.N.D.) and four with Charcot-Marie-Tooth disease (C.M.T.). In progressive muscular dystrophy there is a marked increase in uptake of leucine into cytoplasmic proteins and precursors, and reduced incorporation into structural protein. In Charcot-Marie Tooth disease muscle there is a significantly increased uptake into cytoplasmic elements and a normal uptake into structural protein. In motor neuron disease the uptake into cytoplasmic elements appears normal but is reduced into structural proteins. The abnormal uptake in C.M.T. could be explained as a product of regenerative efforts associated with reinnervation. However, the abnormal uptake may represent the primary effects of gene action in the muscle, as seems probable in progressive muscular dystrophy.
Charcot-Marie-Tooth Disease↗
[Hereditary motor and sensory neuropathy of Charcot-Marie-Tooth disease].
Charcot-Marie-Tooth disease (Hereditary Motor and Sensory Neuropathy) sometimes begins during childhood and can lead to learning and/or orthopedic disabilities. Due to the genetic and clinical heterogeneity of the disease, the diagnosis is based on a familial study of clinical, electromyographic and pathological abnormalities. Two major types of Charcot-Marie-Tooth disease have been described. Type 1 is characterized by a decrease in nerve conduction velocities and by a peripheral nerve hypertrophy due to myelinic alterations, while type 2 is the consequence of axonal alterations. Although type 1 and type 2 patients share similar clinical symptoms, type 2 patients have normal nerve conduction velocities and histological signs of axonal damage. Several genes involved in this disease have been recently located, and, in certain cases, an individual and direct diagnosis is available if the familial abnormality is related to chromosome 17.
Adolescent↗
Disease course of Charcot-Marie-Tooth disease type 2: a 5-year follow-up study.
BACKGROUND: Charcot-Marie-Tooth disease (CMT) type 2 is the axonal variant of an inherited, sensorimotor polyneuropathy. To our knowledge, the clinical course of CMT type 2 has never been prospectively studied in a large group of patients. OBJECTIVE: To prospectively evaluate the disease course of patients with CMT type 2. METHODS: We prospectively evaluated the disease course in patients with CMT type 2. Forty-three patients (24 men) of 27 families with CMT type 2 were included. All patients were analyzed by the same investigator at entry and after 5 years. The standardized protocol included manual muscle testing, which could lead to a motor sum score of 140 points, and quantification of sensory deficit. Disability was assessed using the modified Rankin scale, and quality of life was assessed using the RAND 36-item health survey questionnaire. Eighteen families were tested for known mutations in the MPZ, PMP22, and GJB1 genes. RESULTS: At entry, the mean +/- SD age of the patients was 52 +/- 14 years, and the mean +/- SD duration of disease was 12 +/- 8 years. The median motor sum score deteriorated from 135 to 128 points (P =.02). Progression was never rapid. There was no sensory deterioration. The Rankin score decreased by 1 point in 16 patients. At follow-up, more patients needed walking aids, but most patients remained ambulant. The number of patients with claw toes increased, whereas the number of patients with foot deformities such as pes cavus and short calf muscles remained stable. There was no correlation between deterioration and age. Analysis of quality of life did not show any changes. In one family, a mutation in the GJB1 gene was found. CONCLUSION: This prospective study shows a slow deterioration of muscle strength and increase in disability in CMT type 2 during a 5-year follow-up period.
Adult↗
Laryngeal electromyographic findings in Charcot-Marie-Tooth disease type II.
Charcot-Marie-Tooth disease is a hereditary motor and sensory neuropathy that exhibits progressive muscular atrophy in the limbs, beginning with the lower extremities. It is now understood to be a heterogeneous group of disorders that can be differentiated both clinically and genetically. In Charcot-Marie-Tooth disease type II C, axonal neuropathy, diaphragm weakness, and vocal cord paralysis are described within kindreds. We used laryngeal electromyography to study a patient with this disorder. This technique has potential in the diagnosis of Charcot-Marie-Tooth disease type II.
Adult↗
Foot and ankle manifestations of Charcot-Marie-Tooth disease.
The term Charcot-Marie-Tooth disease represents a spectrum of neurological dysfunction more recently described as hereditary motor-sensory neuropathies. An abnormality of myelination is thought to be responsible for the clinical manifestations. While histological findings have been well described, the exact biochemical basis for this disorder remains unknown. Over one half of patients with Charcot-Marie-Tooth disease manifest foot and ankle problems, including pain, weakness, deformity, and, rarely, paresthesias. Characteristic patterns of neuromuscular weakness have been identified. Bilateral pes cavovarus is the most common pathologic foot deformity seen. The specific components include hindfoot varus, anterior or forefoot cavus, and, often clawtoes. The etiology of this abnormal foot posture usually results from tibialis posterior overpowering peroneus brevis coupled with peroneus longus overpowering tibialis anterior. Multiple treatment options have been described. Rationale for specific tendon transfers, soft tissue release, osteotomies, and arthrodesis is discussed. Results of surgical intervention are difficult to interpret and compare because of the wide spectrum of both neurological dysfunction and described operative procedures. In the presence of flexible deformity, early soft tissue release and tendon transfers may help prevent or delay more extensive bony procedures. The clinical results of triple arthrodesis in the Charcot-Marie-Tooth disease patient appear to deteriorate with time. Genetic transmission, progression of the neurological dysfunction, flexibility of the deformity, distribution of muscular weakness, and anticipated foot demands vary a great deal within this patient population. Treatment decisions, therefore, must be individualized and based upon a clear history, careful examination, and well-defined patient goals.
Ankle Joint↗
Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease.
Charcot-Marie-Tooth disease (CMT) is the most common hereditary peripheral neuropathy, affecting 1 in 2,500 people. The only treatment currently available is rehabilitation or corrective surgery. The most frequent form of the disease, CMT-1A, involves abnormal myelination of the peripheral nerves. Here we used a mouse model of CMT-1A to test the ability of ascorbic acid, a known promoter of myelination, to correct the CMT-1A phenotype. Ascorbic acid treatment resulted in substantial amelioration of the CMT-1A phenotype, and reduced the expression of PMP22 to a level below what is necessary to induce the disease phenotype. As ascorbic acid has already been approved by the FDA for other clinical indications, it offers an immediate therapeutic possibility for patients with the disease.
Animals↗
A transgenic rat model of Charcot-Marie-Tooth disease.
Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy in humans and has been associated with a partial duplication of chromosome 17 (CMT type 1A). We have generated a transgenic rat model of this disease and provide experimental evidence that CMT1A is caused by increased expression of the gene for peripheral myelin protein-22 (PMP22, gas-3). PMP22-transgenic rats develop gait abnormalities caused by a peripheral hypomyelination, Schwann cell hypertrophy (onion bulb formation), and muscle weakness. Reduced nerve conduction velocities closely resemble recordings in human patients with CMT1A. When bred to homozygosity, transgenic animals completely fail to elaborate myelin. We anticipate that the CMT rat model will facilitate the identification of a cellular disease mechanism and serve in the evaluation of potential treatment strategies.
Animals↗
Sonography of the median nerve in Charcot-Marie-Tooth disease.
OBJECTIVE: The purpose of our study was to describe the features on high-frequency sonography of median nerves in patients with Charcot-Marie-Tooth disease and determine whether sonography can help in the detection and characterization of the disease in these patients. SUBJECTS AND METHODS: The median nerves of 24 patients with genetically proven Charcot-Marie-Tooth disease (12 patients with Charcot-Marie-Tooth disease type 1A, seven with Charcot-Marie-Tooth disease type 2, and five with Charcot-Marie-Tooth disease type X) were prospectively examined at the right mid forearm with a 12-5-MHz transducer. Image analysis for each patient included measurement of both the cross-sectional area and fascicular diameter of the nerve. Correlations then were made with genetic and electrophysiologic features and with findings in a control group of 50 subjects. RESULTS: Sonography was found to be a reliable means of detecting the nerve hypertrophy and the fascicular swelling occurring in patients with Charcot-Marie-Tooth disease. The 1A type of Charcot-Marie-Tooth disease could be distinguished sonographically by a larger nerve area and fascicular diameter than those observed in patients with the other types of disease (including Charcot-Marie-Tooth disease type 2 and X-linked type) and the control subjects. In patients with Charcot-Marie-Tooth disease and control subjects, linear regression analysis did not show a correlation between either the cross-sectional area or fascicular diameter of the nerve and the patient's height, body mass, sex, or electrophysiologic parameters. CONCLUSION: High-resolution sonography can be used to detect the hypertrophy of median nerves in patients with Charcot-Marie-Tooth disease. It can be helpful in defining the Charcot-Marie-Tooth type 1A on the basis of the larger nerve sizes and fascicular diameters than those occurring in patients with other types of the disease. In an affected kindred, sonography is promising as a screening tool for identifying individuals who should undergo genetic assessments.
Adolescent↗
Linkage localization of X-linked Charcot-Marie-Tooth disease.
Charcot-Marie-Tooth disease (CMT), also known as hereditary motor and sensory neuropathy, is a heterogeneous group of slowly progressive, degenerative disorders of peripheral nerve. X-linked CMT (CMTX) (McKusick 302800), a subdivision of type I, or demyelinating, CMT is an X-linked dominant condition with variable penetrance. Previous linkage analysis using RFLPs demonstrated linkage to markers on the proximal long and short arms of the X chromosome, with the more likely localization on the proximal long arm of the X chromosome. Available variable simple-sequence repeats (VSSRs) broaden the possibilities for linkage analysis. This paper presents new linkage data and recombination analysis derived from work with four VSSR markers--AR, PGKP1, DXS453, and DXYS1X--in addition to analysis using RFLP markers described elsewhere. These studies localize the CMTX gene to the proximal Xq segment between PGKP1 (Xq11.2-12) and DXS72 (Xq21.1), with a combined maximum multipoint lod score of 15.3 at DXS453 (theta = 0).
Charcot-Marie-Tooth Disease↗
Understanding Schwann cell-neurone interactions: the key to Charcot-Marie-Tooth disease?
Charcot-Marie-Tooth disease (CMT) comprises a heterogeneous group of disorders. The most frequent subtype is caused by increased PMP22 gene dosage or missense point mutations affecting the PMP22 gene (CMT type 1A; CMT1A). Animal models in rat and mouse with the corresponding PMP22 alterations are available and mimic many aspects of the human diseases. Detailed examinations of the animal mutants, together with complementary data from patients, point towards altered Schwann cell-neurone interactions as a major underlying mechanism of CMT1A and related hereditary neuropathies. This is evident from the finding that mutated proteins affecting either Schwann cells or neurones have a profound influence on their partner cells. Recently, a number of novel genes causing various forms of CMT have been identified which are expressed either mainly by Schwann cells and/or by the accompanying neurones. These genes can be viewed, in analogy to classic experiments routinely performed in lower vertebrates, as the result of a 'functional screen' revealing crucial players in the interactions between Schwann cells and neurones. Studying how Schwann cell and axon-encoded proteins are functionally interconnected will be an exciting task for the future. It will not only yield insights into the molecular and cellular basis of neuropathies but also provide crucial information about the interplay between Schwann cells and neurones in general.
Animals↗
Molecular cell biology of Charcot-Marie-Tooth disease.
Charcot-Marie-Tooth disease (CMT), also named hereditary motor and sensory neuropathies, includes a clinically and genetically heterogeneous group of disorders affecting the peripheral nervous system. Traditionally, the different classes of CMT have been divided into demyelinating forms (CMT1, CMT3, and CMT4) and axonal forms (CMT2), a clinically very useful distinction. However, investigations of the underlying molecular and cellular disease mechanisms, mainly accomplished using cell culture and animal models, as well as specific re-examination of appropriate patient cohorts, have revealed that the pathological signs of myelinopathies and axonopathies are often intermingled. These findings, although only recently fully appreciated, are not surprising given the dependence and intimate cellular interactions of Schwann cells and neurons, mainly during nerve development and, as indicated by the pathology of CMT, also in the adult organism. This review is intended to summarize our current knowledge about the molecular and cellular basis of CMT, with a particular emphasis on the role of Schwann cell/axon interactions. Such a view is particularly timely since approximately ten genes have now been identified as culprits in different forms of CMT. This collection revealed novel crucial players in the interplay between Schwann cells and neurons. The analysis of these genes and their encoded proteins will provide additional insights into the molecular and cellular basis of neuropathies and valuable information about the biology and interactions of Schwann cells, their associated neurons, endoneurial fibroblasts, and the nerve-surrounding and protecting perineurial sheath.
Charcot-Marie-Tooth Disease↗
Cardiac findings in Charcot-Marie-Tooth disease. A prospective study of 68 patients.
Charcot-Marie-Tooth disease (peroneal muscular atrophy) has been reported to cause cardiac arrthymias and conduction disturbances in association with peripheral muscle atrophy. To establish more accurately the frequency of such cardiac disorders in this disease, 68 patients with Charcot-Marie-Tooth disease were evaluated prospectively for evidence of cardiac involvement. Cardiac findings were limited to five patients with conduction defects, two patients with supraventricular tachycardia, two patients with ischemic heart disease, and 20 with mitral valve prolapse. The frequency of each of the abnormal cardiac findings, with the possibly emalities in the population at large. The low incidence of cardiac involvement in patients with Charcot-Marie-Tooth disease may be helpful in distinguishing this disorder from Friedreich's ataxia, an entity that may mimic Charcot-Marie-Tooth disease but that is frequently associated with heart disease.
Adult↗
Diaphragmatic dysfunction in siblings with hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease).
Hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease) is characterized by chronic degeneration of peripheral nerves and roots, resulting in distal muscle atrophy, beginning in the feet and legs and later involving the hands. The association of this disease with diaphragmatic dysfunction has not been reported. We studied a patient with hereditary motor and sensory neuropathy type 1 (Charcot-Marie-Tooth disease) and type 2 diabetes mellitus who had severe diaphragmatic impairment. Some of the clinical findings are similar to the sleep apnea syndrome, which could lead to incorrect diagnosis and delay in the administration of appropriate therapy. Transdiaphragmatic pressure studies on the subject's brother, who also has Charcot-Marie-Tooth disease and type 2 diabetes mellitus, revealed subclinical impairment of diaphragmatic function. These findings suggest that phrenic nerve involvement may be part of the spectrum of polyneuropathy in Charcot-Marie-Tooth disease in association with diabetes mellitus.
Aged↗
Connexin channels in Schwann cells and the development of the X-linked form of Charcot-Marie-Tooth disease.
Charcot-Marie-Tooth disease comprises a group of genetically heterogenous disorders of the peripheral nervous system. The X-linked form of Charcot-Marie-Tooth (CMTX) is associated with mutations in the gene encoding the gap junction protein connexin32 (Cx32), which is expressed in Schwann cells. Immunocytochemical evidence suggests that Cx32 is localized to the incisures of Schmidt-Lanterman and the paranodes of myelinating Schwann cells, where it appears to form reflexive gap junctions. It is currently thought that this cytoplasmic continuity provides a much shorter diffusion pathway for the transport of ions, metabolites and second messenger molecules through intracellular channels between the adaxonal and peri-nuclear regions of Schwann cells, across the myelin sheath. This review summarizes our current understanding of the role of connexins in Schwann cells and focuses on the lessons for channel function and disease pathophysiology derived from the functional analysis of Cx32 mutations. One of the most intriguing aspects emerging from this work is that several mutations retain functional competence, although the mutated channels exhibit altered gating properties. This suggests that partial and/or selective disruption of the radial communication pathway formed by Cx32 is sufficient to cause a functional deficit and lead to the development of CMTX. The next challenge will be to define, at the molecular level, the sequence of events involved in the disease process. The presence of a group of functional mutations should help understand the cellular basis of CMTX, by allowing the identification of the specific molecules that need to be exchanged through Cx32 channels, but are excluded from the mutated ones.
Animals↗
The kinesin superfamily protein Rab6KIFL is not involved in the pathophysiology of Charcot-Marie-Tooth disease type 4C.
Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive peripheral neuropathy reported in several Algerian families. The gene locus of this disease has been narrowed to 5q31-33. Recently, a missense mutation in the gene for the kinesin superfamily KIF1B was reported as the cause of Charcot Marie Tooth disease type 2A (CMT2A). We suspected that Rab6KIFL, one of the kinesin superfamily proteins, might be involved in the pathophysiology of CMT4C, because Rab6KIFL gene is located in 5q31. The coding regions of the Rab6KIFL gene of genomic DNA derived from one Algerian family with CMT4C were analyzed by direct sequencing. No mutation in Rab6KIFL gene was found in this family. Further investigation is necessary to identify the causative gene for CMT4C.
Base Sequence↗