Tooth DiseasesArthropathy, Neurogenic: Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly TABES DORSALIS, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)Hypotrichosis: Presence of less than the normal amount of hair. (Dorland, 27th ed)Tooth: One of a set of bone-like structures in the mouth used for biting and chewing.Anaplasma marginale: A species of gram-negative bacteria and causative agent of severe bovine ANAPLASMOSIS. It is the most pathogenic of the ANAPLASMA species.Anaplasmosis: A disease of cattle caused by parasitization of the red blood cells by bacteria of the genus ANAPLASMA.Nail Diseases: Diseases of the nail plate and tissues surrounding it. The concept is limited to primates.Diabetic Foot: Common foot problems in persons with DIABETES MELLITUS, caused by any combination of factors such as DIABETIC NEUROPATHIES; PERIPHERAL VASCULAR DISEASES; and INFECTION. With the loss of sensation and poor circulation, injuries and infections often lead to severe foot ulceration, GANGRENE and AMPUTATION.History, 19th Century: Time period from 1801 through 1900 of the common era.Neurology: A medical specialty concerned with the study of the structures, functions, and diseases of the nervous system.Tarsal Bones: The seven bones which form the tarsus - namely, CALCANEUS; TALUS; cuboid, navicular, and the internal, middle, and external cuneiforms.Hysteria: Historical term for a chronic, but fluctuating, disorder beginning in early life and characterized by recurrent and multiple somatic complaints not apparently due to physical illness. This diagnosis is not used in contemporary practice.Diabetic Neuropathies: Peripheral, autonomic, and cranial nerve disorders that are associated with DIABETES MELLITUS. These conditions usually result from diabetic microvascular injury involving small blood vessels that supply nerves (VASA NERVORUM). Relatively common conditions which may be associated with diabetic neuropathy include third nerve palsy (see OCULOMOTOR NERVE DISEASES); MONONEUROPATHY; mononeuropathy multiplex; diabetic amyotrophy; a painful POLYNEUROPATHY; autonomic neuropathy; and thoracoabdominal neuropathy. (From Adams et al., Principles of Neurology, 6th ed, p1325)Foot Deformities, Acquired: Distortion or disfigurement of the foot, or a part of the foot, acquired through disease or injury after birth.Foot Diseases: Anatomical and functional disorders affecting the foot.Scalp: The outer covering of the calvaria. It is composed of several layers: SKIN; subcutaneous connective tissue; the occipitofrontal muscle which includes the tendinous galea aponeurotica; loose connective tissue; and the pericranium (the PERIOSTEUM of the SKULL).Foot Ulcer: Lesion on the surface of the skin of the foot, usually accompanied by inflammation. The lesion may become infected or necrotic and is frequently associated with diabetes or leprosy.Tooth Loss: The failure to retain teeth as a result of disease or injury.Tooth Germ: The collective tissues from which an entire tooth is formed, including the DENTAL SAC; ENAMEL ORGAN; and DENTAL PAPILLA. (From Jablonski, Dictionary of Dentistry, 1992)Tooth, Deciduous: The teeth of the first dentition, which are shed and replaced by the permanent teeth.Tooth Crown: The upper part of the tooth, which joins the lower part of the tooth (TOOTH ROOT) at the cervix (TOOTH CERVIX) at a line called the cementoenamel junction. The entire surface of the crown is covered with enamel which is thicker at the extremity and becomes progressively thinner toward the cervix. (From Jablonski, Dictionary of Dentistry, 1992, p216)Tooth Root: The part of a tooth from the neck to the apex, embedded in the alveolar process and covered with cementum. A root may be single or divided into several branches, usually identified by their relative position, e.g., lingual root or buccal root. Single-rooted teeth include mandibular first and second premolars and the maxillary second premolar teeth. The maxillary first premolar has two roots in most cases. Maxillary molars have three roots. (Jablonski, Dictionary of Dentistry, 1992, p690)Foot Injuries: General or unspecified injuries involving the foot.Tooth Eruption: The emergence of a tooth from within its follicle in the ALVEOLAR PROCESS of the MAXILLA or MANDIBLE into the ORAL CAVITY. (Boucher's Clinical Dental Terminology, 4th ed)History of NursingOsteitis: Inflammation of the bone.Gait Disorders, Neurologic: Gait abnormalities that are a manifestation of nervous system dysfunction. These conditions may be caused by a wide variety of disorders which affect motor control, sensory feedback, and muscle strength including: CENTRAL NERVOUS SYSTEM DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; or MUSCULAR DISEASES.Arthrodesis: The surgical fixation of a joint by a procedure designed to accomplish fusion of the joint surfaces by promoting the proliferation of bone cells. (Dorland, 28th ed)Tooth, Supernumerary: An extra tooth, erupted or unerupted, resembling or unlike the other teeth in the group to which it belongs. Its presence may cause malposition of adjacent teeth or prevent their eruption.Tooth Abnormalities: Congenital absence of or defects in structures of the teeth.Tooth Wear: Loss of the tooth substance by chemical or mechanical processesTooth Extraction: The surgical removal of a tooth. (Dorland, 28th ed)Foot: The distal extremity of the leg in vertebrates, consisting of the tarsus (ANKLE); METATARSUS; phalanges; and the soft tissues surrounding these bones.France: A country in western Europe bordered by the Atlantic Ocean, the English Channel, the Mediterranean Sea, and the countries of Belgium, Germany, Italy, Spain, Switzerland, the principalities of Andorra and Monaco, and by the duchy of Luxembourg. Its capital is Paris.Tooth, Nonvital: A tooth from which the dental pulp has been removed or is necrotic. (Boucher, Clinical Dental Terminology, 4th ed)History, 20th Century: Time period from 1901 through 2000 of the common era.Molar: The most posterior teeth on either side of the jaw, totaling eight in the deciduous dentition (2 on each side, upper and lower), and usually 12 in the permanent dentition (three on each side, upper and lower). They are grinding teeth, having large crowns and broad chewing surfaces. (Jablonski, Dictionary of Dentistry, 1992, p821)Tooth, Impacted: A tooth that is prevented from erupting by a physical barrier, usually other teeth. Impaction may also result from orientation of the tooth in an other than vertical position in the periodontal structures.Tooth Discoloration: Any change in the hue, color, or translucency of a tooth due to any cause. Restorative filling materials, drugs (both topical and systemic), pulpal necrosis, or hemorrhage may be responsible. (Jablonski, Dictionary of Dentistry, 1992, p253)Tooth, Unerupted: A normal developing tooth which has not yet perforated the oral mucosa or one that fails to erupt in the normal sequence or time interval expected for the type of tooth in a given gender, age, or population group.ShoesIncisor: Any of the eight frontal teeth (four maxillary and four mandibular) having a sharp incisal edge for cutting food and a single root, which occurs in man both as a deciduous and a permanent tooth. (Jablonski, Dictionary of Dentistry, 1992, p820)Odontogenesis: The process of TOOTH formation. It is divided into several stages including: the dental lamina stage, the bud stage, the cap stage, and the bell stage. Odontogenesis includes the production of tooth enamel (AMELOGENESIS), dentin (DENTINOGENESIS), and dental cementum (CEMENTOGENESIS).Charcot-Marie-Tooth Disease: A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343)Tooth Cervix: The constricted part of the tooth at the junction of the crown and root or roots. It is often referred to as the cementoenamel junction (CEJ), the line at which the cementum covering the root of a tooth and the enamel of the tooth meet. (Jablonski, Dictionary of Dentistry, 1992, p530, p433)Dental Enamel: A hard thin translucent layer of calcified substance which envelops and protects the dentin of the crown of the tooth. It is the hardest substance in the body and is almost entirely composed of calcium salts. Under the microscope, it is composed of thin rods (enamel prisms) held together by cementing substance, and surrounded by an enamel sheath. (From Jablonski, Dictionary of Dentistry, 1992, p286)Tooth Exfoliation: Physiologic loss of the primary dentition. (Zwemer, Boucher's Clinical Dental Terminology, 4th ed)Immobilization: The restriction of the MOVEMENT of whole or part of the body by physical means (RESTRAINT, PHYSICAL) or chemically by ANALGESIA, or the use of TRANQUILIZING AGENTS or NEUROMUSCULAR NONDEPOLARIZING AGENTS. It includes experimental protocols used to evaluate the physiologic effects of immobility.Tooth Avulsion: Partial or complete displacement of a tooth from its alveolar support. It is commonly the result of trauma. (From Boucher's Clinical Dental Terminology, 4th ed, p312)Fused Teeth: Two teeth united during development by the union of their tooth germs; the teeth may be joined by the enamel of their crowns, by their root dentin, or by both.Cuspid: The third tooth to the left and to the right of the midline of either jaw, situated between the second INCISOR and the premolar teeth (BICUSPID). (Jablonski, Dictionary of Dentistry, 1992, p817)Tooth Calcification: The process whereby calcium salts are deposited in the dental enamel. The process is normal in the development of bones and teeth. (Boucher's Clinical Dental Terminology, 4th ed, p43)Bicuspid: One of the eight permanent teeth, two on either side in each jaw, between the canines (CUSPID) and the molars (MOLAR), serving for grinding and crushing food. The upper have two cusps (bicuspid) but the lower have one to three. (Jablonski, Dictionary of Dentistry, 1992, p822)Tooth Ankylosis: Solid fixation of a tooth resulting from fusion of the cementum and alveolar bone, with obliteration of the periodontal ligament. It is uncommon in the deciduous dentition and very rare in permanent teeth. (Jablonski's Dictionary of Dentistry, 1992)Dental Pulp: A richly vascularized and innervated connective tissue of mesodermal origin, contained in the central cavity of a tooth and delimited by the dentin, and having formative, nutritive, sensory, and protective functions. (Jablonski, Dictionary of Dentistry, 1992)Tooth Erosion: Progressive loss of the hard substance of a tooth by chemical processes that do not involve bacterial action. (Jablonski, Dictionary of Dentistry, 1992, p296)Tooth Socket: A hollow part of the alveolar process of the MAXILLA or MANDIBLE where each tooth fits and is attached via the periodontal ligament.Tooth Replantation: Reinsertion of a tooth into the alveolus from which it was removed or otherwise lost.Maxilla: One of a pair of irregularly shaped bones that form the upper jaw. A maxillary bone provides tooth sockets for the superior teeth, forms part of the ORBIT, and contains the MAXILLARY SINUS.Dentin: The hard portion of the tooth surrounding the pulp, covered by enamel on the crown and cementum on the root, which is harder and denser than bone but softer than enamel, and is thus readily abraded when left unprotected. (From Jablonski, Dictionary of Dentistry, 1992)Tooth Resorption: Resorption of calcified dental tissue, involving demineralization due to reversal of the cation exchange and lacunar resorption by osteoclasts. There are two types: external (as a result of tooth pathology) and internal (apparently initiated by a peculiar inflammatory hyperplasia of the pulp). (From Jablonski, Dictionary of Dentistry, 1992, p676)Diabetes Complications: Conditions or pathological processes associated with the disease of diabetes mellitus. Due to the impaired control of BLOOD GLUCOSE level in diabetic patients, pathological processes develop in numerous tissues and organs including the EYE, the KIDNEY, the BLOOD VESSELS, and the NERVE TISSUE.Dental Caries: Localized destruction of the tooth surface initiated by decalcification of the enamel followed by enzymatic lysis of organic structures and leading to cavity formation. If left unchecked, the cavity may penetrate the enamel and dentin and reach the pulp.Dentition: The teeth collectively in the dental arch. Dentition ordinarily refers to the natural teeth in position in their alveoli. Dentition referring to the deciduous teeth is DENTITION, PRIMARY; to the permanent teeth, DENTITION, PERMANENT. (From Jablonski, Dictionary of Dentistry, 1992)Amputation: The removal of a limb or other appendage or outgrowth of the body. (Dorland, 28th ed)Root Canal Therapy: A treatment modality in endodontics concerned with the therapy of diseases of the dental pulp. For preparatory procedures, ROOT CANAL PREPARATION is available.Odontometry: Measurement of tooth characteristics.Mandible: The largest and strongest bone of the FACE constituting the lower jaw. It supports the lower teeth.Tooth Demineralization: A tooth's loss of minerals, such as calcium in hydroxyapatite from the tooth matrix, caused by acidic exposure. An example of the occurrence of demineralization is in the formation of dental caries.Dentition, Permanent: The 32 teeth of adulthood that either replace or are added to the complement of deciduous teeth. (Boucher's Clinical Dental Terminology, 4th ed)Dental Restoration, Permanent: A restoration designed to remain in service for not less than 20 to 30 years, usually made of gold casting, cohesive gold, or amalgam. (Jablonski, Dictionary of Dentistry, 1992)Anodontia: Congenital absence of the teeth; it may involve all (total anodontia) or only some of the teeth (partial anodontia, hypodontia), and both the deciduous and the permanent dentition, or only teeth of the permanent dentition. (Dorland, 27th ed)Tooth Preparation, Prosthodontic: The selected form given to a natural tooth when it is reduced by instrumentation to receive a prosthesis (e.g., artificial crown or a retainer for a fixed or removable prosthesis). The selection of the form is guided by clinical circumstances and physical properties of the materials that make up the prosthesis. (Boucher's Clinical Dental Terminology, 4th ed, p239)Periodontal Ligament: The fibrous CONNECTIVE TISSUE surrounding the TOOTH ROOT, separating it from and attaching it to the alveolar bone (ALVEOLAR PROCESS).Alveolar Process: The thickest and spongiest part of the maxilla and mandible hollowed out into deep cavities for the teeth.Age Determination by Teeth: A means of identifying the age of an animal or human through tooth examination.

Linkage relations of locus for X-borne type of Charcot-Marie-Tooth muscular atrophy and that for Xg blood groups. (1/499)

The locus for the X-borne type of Charcot-Marie-Tooth muscular atrophy is not close to the Xg locus and probably not within direct measurable distance of it.  (+info)

The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. (2/499)

We observed a missense mutation in the peripheral myelin protein zero gene (MPZ, Thr124Met) in seven Charcot-Marie-Tooth (CMT) families and in two isolated CMT patients of Belgian ancestry. Allele-sharing analysis of markers flanking the MPZ gene indicated that all patients with the Thr124Met mutation have one common ancestor. The mutation is associated with a clinically distinct phenotype characterized by late onset, marked sensory abnormalities and, in some families, deafness and pupillary abnormalities. Nerve conduction velocities of the motor median nerve vary from <38 m/s to normal values in these patients. Clusters of remyelinating axons in a sural nerve biopsy demonstrate an axonal involvement, with axonal regeneration. Phenotype-genotype correlations in 30 patients with the Thr124Met MPZ mutation indicate that, based on nerve conduction velocity criteria, these patients are difficult to classify as CMT1 or CMT2. We therefore conclude that CMT patients with slightly reduced or nearly normal nerve conduction velocity should be screened for MPZ mutations, particularly when additional clinical features such as marked sensory disturbances, pupillary abnormalities or deafness are also present.  (+info)

Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene. (3/499)

BACKGROUND: X linked dominant Charcot-Marie-Tooth disease (CMT1X) is an inherited motor and sensory neuropathy that mainly affects the peripheral nervous system. CMT1X is associated with mutations in the gap junction protein connexin 32 (Cx32). Cx32 is expressed in Schwann cells and oligodendrocytes in the peripheral (PNS) and in the (CNS) respectively. METHODS: A CMT1X family with a Cx32 mutation was examined clinically and electrophysiologically to determine whether PNS, or CNS, or both pathways were affected. RESULTS: In a CMT1X family a novel mutation (Asn205Ser) was found in the fourth transmembrane domain of Cx32. The patients showed typical clinical and electrophysiological abnormalities in the PNS, but in addition visual, acoustic, and motor pathways of the CNS were affected subclinically. This was indicated by pathological changes in visually evoked potentials (VEPs), brainstem auditory evoked potentials (BAEPs), and central motor evoked potentials (CMEPs). CONCLUSIONS: These findings underscore the necessity of a careful analysis of CNS pathways in patients with CMT and Cx32 mutations. Abnormal electrophysiological findings in CNS pathway examinations should raise the suspicion of CMTX and a search for gene mutations towards Cx32 should be considered.  (+info)

Motor nerve conduction velocity in spinal muscular atrophy of childhood. (4/499)

The ulnar and posterior tibial conduction velocities were measured in 29 children with spinal muscular atrophy, 14 of whom had the servere form of the disease. The ulnar nerve velocity was slow in 12 of the 14 severely affected infants, but normal or fast in 11 of 14 children less severely affected. The corresponding results for the posterior tibial nerve were slow velocities in 11 of 12 infants in the severe group and normal or fast in all 11 infants less severely affected. The difficulty in distinguishing infantile spinal muscular atrophy from peripheral neuropathy is emphasized.  (+info)

Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33. (5/499)

OBJECTIVES: To report the occurrence of the autosomal recessive form of demyelinating Charcot-Marie-Tooth disease (CMT) with a locus on chromosome 5q23-33 in six non-related European families, to refine gene mapping, and to define the disease phenotype. METHODS: In an Algerian patient with autosomal recessive demyelinating CMT mapped to chromosome 5q23-q33 the same unique nerve pathology was established as previously described in families with a special form of autosomal recessive demyelinating CMT. Subsequently, the DNA of patients with this phenotype was tested from five Dutch families and one Turkish family for the 5q23-q33 locus. RESULTS: These patients and the Algerian families showed a similar and highly typical combination of clinical and morphological features, suggesting a common genetic defect. A complete cosegregation for markers D5S413, D5S434, D5S636, and D5S410 was found in the families. Haplotype construction located the gene to a 7 cM region between D5S643 and D5S670. In the present Dutch families linkage disequilibrium could be shown for various risk alleles and haplotypes indicating that most of these families may have inherited the underlying genetic defect form a common distant ancestor. CONCLUSIONS: This study refines the gene localisation of autosomal recessive demyelinating CMT, mapping to chromosome 5q23-33 and defines the phenotype characterised by a precocious and rapidly progressive scoliosis in combination with a relatively mild neuropathy and a unique pathology. Morphological alterations in Schwann cells of the myelinated and unmyelinated type suggest the involvement of a protein present in both Schwann cell types or an extracellular matrix protein rather than a myelin protein. The combination of pathological features possibly discerns autosomal recessive demyelinating CMT with a gene locus on chromosome 5q23-33 from other demyelinating forms of CMT disease.  (+info)

Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations. (6/499)

Hexamers of connexins (Cxs) form hemichannels that dock tightly in series via their extracellular domains to give rise to gap junction channels. Here we examined the ability of a variety of C-terminal Cx32 mutations, most of which have been identified in X-linked Charcot-Marie-Tooth disease, to form hemichannels and to complete gap junction channels using the Xenopus oocyte system. First, we show that undocked wild-type Cx32 hemichannels at the plasma membrane can be detected as opening channels activated by depolarization. We have been able to estimate the efficiency of assembly of complete channels by measuring the time-dependent incorporation of preformed hemichannels into gap junction channels after cell-to-cell contact. These data offer strong evidence that hemichannels are the direct precursors of gap junction channels. Of 11 Cx32 mutants tested, a group of 5 mutations prevented the formation of functional hemichannels at the cell surface, whereas 4 mutations were fully able to form precursors but reduced the ability of hemichannels to assemble into complete channels, and 2 mutants formed channels normally. The data revealed that a minimum length of human Cx32 including the residue Arg-215 is required for the expression of hemichannels at the cell surface and that the efficiency of hemichannel incorporation into complete channels decreased gradually with the progressive shortening of the cytoplasmic C-terminal domain.  (+info)

Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene. (7/499)

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.  (+info)

A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. (8/499)

Charcot-Marie-Tooth disease (CMT) with deafness is clinically distinct among the genetically heterogeneous group of CMT disorders. Molecular studies in a large family with autosomal dominant CMT and deafness have not been reported. The present molecular study involves a family with progressive features of CMT and deafness, originally reported by Kousseff et al. Genetic analysis of 70 individuals (31 affected, 28 unaffected, and 11 spouses) revealed linkage to markers on chromosome 17p11.2-p12, with a maximum LOD score of 9.01 for marker D17S1357 at a recombination fraction of .03. Haplotype analysis placed the CMT-deafness locus between markers D17S839 and D17S122, a approximately 0.6-Mb interval. This critical region lies within the CMT type 1A duplication region and excludes MYO15, a gene coding an unconventional myosin that causes a form of autosomal recessive deafness called DFNB3. Affected individuals from this family do not have the common 1.5-Mb duplication of CMT type 1A. Direct sequencing of the candidate peripheral myelin protein 22 (PMP22) gene detected a unique G-->C transversion in the heterozygous state in all affected individuals, at position 248 in coding exon 3, predicted to result in an Ala67Pro substitution in the second transmembrane domain of PMP22.  (+info)