SEARCH · Search PubMed

Results for “TOOTH DISEASES”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

SourceResearch connectionFrom yearThrough year

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 1,117 records · Page 62Linked to original sources

PubMed1995

Peripheral myelin protein 22: facts and hypotheses.

Mutations affecting the peripheral myelin protein 22 (PMP22) gene are associated with inherited motor and sensory neuropathies in mouse (Trembler and Trembler-J) and human (Charcot-Marie-Tooth disease type 1A and Dejerine-Sottas syndrome). Although genetic studies have established a critical role of PMP22 in the formation and/or maintenance of myelin in the peripheral nervous system, the biological function of PMP22 in myelin and in non-myelin forming cells remains largely enigmatic. In this Mini-Review, we will summarize the current knowledge about PMP22 and discuss its hypothetical function(s) in a broad context.

Animals↗

PubMed1990

[Hereditary familial neuropathies: genetic counseling and early diagnosis in primary care].

We present 5 cases of sensitive-motor hereditary neuropathies which were detected or controlled in primary care. Four patients had Charcot-Marie-Tooth disease (type I) and the remaining patient is a carrier of Dejerine-Sottas disease (type III). Regardless of the age of presentation of the disease, the evolution has been slow but steady in all cases. Talipes cavus is the most frequent secondary deformity. An electroneuromyographic study and a neural biopsy were the complementary diagnostic tests used. Three of the patients presented family antecedents. We believe that early diagnosis, family study and genetic advice are of great importance in primary care.

Charcot-Marie-Tooth Disease↗

PubMed2004

SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma.

The authors report a Japanese family segregating autosomal recessive Charcot-Marie-Tooth disease (CMT) with focally folded myelin, juvenile-onset glaucoma, and a nonsense mutation of SET binding factor 2 (SBF2). The consistent phenotypic features associated with SBF2 mutations are early-onset demyelinating neuropathy, myelin folding, and markedly decreased motor nerve conduction velocities; glaucoma associates with SBF2 nonsense mutations.

Adolescent↗

PubMed1996

[Charcot-Marie-Tooth syndrome. Clinico-genetic correlation in an affected family].

Hereditary motor and sensory neuropathy (HMSN) is one of the most frequently inherited causes of peripheral neurological disability. To date, the classification has been based on clinical, histological and genetic grounds. Due to increased genetic knowledge at the molecular level in recent years, diagnosis of the different subtypes has been considerably improved and their relationship clarified. We describe three generations of a family with HMSN IA (Charcot-Marie-Tooth disease IA = CMT 1A) with a genetic defect mapped to chromosome 17 and show the importance of genetic testing. Even in benign and clinically non-manifested causes of the disease, an early and non-invasive diagnosis should be made by genetic testing to identify affected persons; thus, nerve biopsy can be abandoned. Operations of pes cavus, which are not indicated and are often complicated by delayed healing, may be avoided. Instead, patients should undergo early physiotherapy and be counselled about their professional careers and family planning.

Adult↗

PubMed1995

[Genetics of peripheral neuropathies and hereditary ataxias].

Charcot-Marie-Tooth disease (CMT) is a hereditary motor-sensory neuropathy with a large genetic heterogeneity. Type 1 (CMT1), or demyelinating CMT, and type 2 (CMT2), or neuronal CMT, are two genetically and clinically distinct entities. CMT1 is the more prevalent and better understood of the two from a genetic standpoint. At least three genes have been shown to be implicated: the 22Kda (PMP22) gene for peripheral myelin protein located in the 17p11.2 chromosome (the CMT1A locus), the P0 myelin protein gene located in the 1q23 chromosome (the CMT1B locus), and the connexin 32 (Cx32) gene located in the Xq13 chromosome (CMTX locus). The most common mutation in CMT1, found in 70% of cases, is a tandem duplication of 1,500 kb at the CMT1A locus. Point mutations have also been described in the PMP22 gene and in P0 and Cx32. Déjerine-Sortas syndrome (DSS) is caused by point mutations in PMP22 and P0 genes, whereas familial neuropathy with liability to pressure palsies (FNPP) or tomacular neuropathy are caused mainly by deletion of 1,500 kb at the CMT1A locus, although point mutations have also been described in the PMP22 gene. Altogether, we can say that CMT1, DSS and FNPP are different clinical expressions of the same genetic pathology and reflect a phenotypic spectrum of related myelin disorders. Hereditary ataxias constitute a wide ranging and heterogeneous set of clinical entities with different ages of onset, patterns of system involvement and type of inheritance. The most common form is Friedreich's ataxia, a autosomally recessive inherited disease whose gene is located in the 9q13 chromosome, though it has not yet been isolated. This disease has various clinical presentations, which does not imply genetic heterogeneity. Dominant autosomal cerebellar ataxias, on the other hand, are extremely heterogeneous. Seven genetic loci have been described, some of which are associated to cerebellar plus forms and expanded unstable triplet sequences of CAG in SCA1 and SCA3/MJD. One locus has been described for the "pure cerebellar form" (ACAD type III) (locus SCA5) and another for the form with retinopathy (ACAD type II) (locus SCA7).

Alleles↗

PubMed1988

DNA probes in Charcot-Marie-Tooth neuropathy.

Results of Duffy (Fy) linkage confirm genetic heterogeneity in Charcot-Marie-Tooth disease type 1 (CMT1). Of 11 families informative for Fy, four showed probable linkage with CMT1, seven showed-probable non-linkage and two showed definite non-linkage. These results suggest that Fy linked CMT1 may be less common than previously thought. These results combined with those of another DNA probe for the antithrombin III gene confirm that there are at least two gene loci for CMT1, termed 1A and 1B.

Charcot-Marie-Tooth Disease↗

PubMed1999

[Laparoscopic treatment of Morgagni-Larrey hernias].

Three patients with Morgagni-Larrey hernias are reported who underwent successful laparoscopic repair between 1992 and 1998. The hernia was closed by direct suturing in one case; in the two other cases a polypropylene mesh was used because of the size of the hernia in one case and in the other because of muscle atrophy in a patient with Charcot-Marie-Tooth disease. There were no complications, and the patients were discharged 3-4 days after surgical treatment. The current follow-up is between 10 months and 6 years; there have been no hernia recurrences and all patients are asymptomatic. We consider laparoscopic repair to be a suitable and safe procedure for treatment of Morgagni hernias. We discuss the two different techniques, direct suturing or using polypropylene mesh by reviewing the results of the current literature.

Adult↗

PubMed1989

Exclusion analysis of Charcot-Marie-Tooth neuropathy (CMT1) with chromosome 1p markers.

We previously described a large five-generation family with autosomal dominant inheritance of hereditary motor and sensory neuropathy type I, or Charcot-Marie-Tooth disease (CMT1). The genetic defect in this family was not linked to the Duffy blood group. We investigated the possibility of a disease locus on the short arm of chromosome 1 using 12 anonymous DNA markers. Two markers, D1S2 and D1S22, showed positive linkage, suggesting the existence of a CMT1 locus on 1p. D1S2 and D1S22 are clustered in the 1p31----p22 region. However, multipoint linkage analysis, including additional DNA markers from this chromosome region, excluded a possible CMT1 locus in this part of chromosome 1.

Charcot-Marie-Tooth Disease↗

PubMed2000

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

A gene mutated in Charcot-Marie-Tooth disease type 4B (CMT4B), an autosomal recessive demyelinating neuropathy with myelin outfoldings, has been mapped on chromosome 11q22. Using a positional-cloning strategy, we identified in unrelated CMT4B patients mutations occurring in the gene MTMR2, encoding myotubularin-related protein-2, a dual specificity phosphatase (DSP).

Alternative Splicing↗

PubMed1979

Mitochondrial abnormalities of late motor neuron degeneration following poliomyelitis and other neurogenic muscular atrophies.

A case of late motor neuron degeneration following poliomyelitis with abnormal mitochondria in muscle fibers is presented with two additional cases of systemic neurogenic muscular atrophy (Charcot-Marie-Tooth disease). Muscle biopsy revealed a neurogenic pattern of variable severity in all cases. Subsarcolemmal zones of hyperactivity and hyperpositive intermyofibrillar collections of granular material present in a variable proportion of type I fibers were demonstrated by oxidative enzymes. Ultrastructurally they corresponded to abnormal mitochondria, with paracrystalline inclusions in one case. The finding is discussed in the light of the previous literature on mitochondrial myopathies. Mitochondrial alterations are not specific and their significance in neurogenic conditions is debated.

Adolescent↗

PubMed1992

Linkage analysis of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree.

We describe a six generation family affected with the autosomal dominant form of distal hereditary motor neuropathy type II (distal HMN II). The distal HMN shows similarities with the hereditary motor and sensory neuropathies type I and II (HMSN I and HMSN II) or Charcot-Marie-Tooth disease type 1 and 2 (CMT 1 and CMT 2) and with some proximal HMN or spinal muscular atrophies (SMA). Gene loci have been assigned to chromosomes 1q, 17p, and 19q for CMT 1 and to chromosome 5q for recessive SMA. In this study we excluded all four regions for the presence of distal HMN II, indicating that this neuropathy is genetically different from CMT 1 and recessive SMA.

Charcot-Marie-Tooth Disease↗

PubMed1992

De-novo mutation in hereditary motor and sensory neuropathy type I.

Isolated cases of hereditary motor and sensory neuropathy type I (HMSN I, Charcot-Marie-Tooth disease type 1) have been thought to be most frequently autosomal recessive. We have found that a recently discovered duplication in chromosome 17, responsible for most cases of autosomal dominant HMSN I, is present as a de-novo mutation in 9 out of 10 sporadic patients. This finding has important implications for genetic counselling of isolated patients with HMSN I.

Adolescent↗

PubMed2005

A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24.

The authors describe a Korean family with X-linked recessive Charcot-Marie-Tooth disease (CMT) having deafness and optic neuropathy. An X chromosome-wide linkage analysis identified a 15.2-cM candidate region flanked by DXS990 and DXS8067 on Xq21.32-q24 with the maximum lod score at DXS8077 (3.62, theta = 0.00). This locus does not overlap previously identified four loci for X-linked CMT, and the authors propose it as CMTX5.

Adolescent↗

PubMed1992

Optic atrophy, sensorineural hearing loss and polyneuropathy--a case of sporadic Rosenberg-Chutorian syndrome.

We report on a 41-year-old woman with slowly progressive motor dominant polyneuropathy, optic atrophy and sensorineural deafness, but without any known familial feature. These neurological manifestations were in accordance with the syndrome reported by Rosenberg and Chutorian in 1967 (Rosenberg-Chutorian syndrome), a unique form of Charcot-Marie-Tooth disease. The syndrome was first reported to be autosomal dominant in trait, but subsequently recessive forms and sporadic ones have also been described. Nerve biopsy and neurophysiological studies including electromyography, nerve conduction velocities, somatosensory evoked potentials, auditory brainstem responses, and visual evoked potentials revealed the axonopathic involvement of the central nervous system as well as the peripheral nervous system. Since neurophysiological aspects of this particular syndrome have not been well studied, these results would provide some insight into the understanding of this disorder.

Adult↗

PubMed2004

Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction.

We identified a large Charcot-Marie-Tooth disease family with a novel mutation in the Connexin 32 (Cx32) P2 promoter region at position -526bp. This mutation was in a highly conserved SOX10 binding site. Functional studies were conducted on the Cx32 promoter that showed that this mutation reduced the activity of the Cx32 promoter and the affinity for SOX10 binding. These data suggest that interaction between the Cx32 P2 promoter, SOX10, and EGR2 highlight a mechanism of peripheral nerve dysfunction.

Animals↗

PubMed2005

The AGE/RAGE/NF-(kappa)B pathway may contribute to the pathogenesis of polyneuropathy in impaired glucose tolerance (IGT).

Binding of ligands to the receptor for advanced glycation end products (RAGE) results in activation of the transcription factor nuclear factor kappa B (NF-(kappa)B) and subsequent expression of NF-(kappa)B-regulated cytokines. This has been shown to be a relevant pathomechanism in diabetic polyneuropathies (PNP). To determine whether this pathway may contribute to the pathogenesis of PNP due to impaired glucose tolerance (IGT) we performed a pilot study to demonstrate the presence of the RAGE ligand N (epsilon)-(Carboxymethyl)lysine (CML), the receptor itself and N-(kappa)B in sural nerve biopsies of 4 patients with IGT-related PNP. Biopsies of either 4 patients with diabetic PNP and with Charcot-Marie-Tooth disease (CMT) I and II served as positive and negative controls, respectively. In IGT-related PNP and diabetic PNP, CML, RAGE, and NF-(kappa)B was found in the perineurium, epineurial vessels and in part in endoneurial vessels. CMT patients showed, if any, only weak staining for one or the other antigen. These data suggest that activation of the RAGE pathway may be one of the first steps in the pathogenesis of PNP even before chronic hyperglycemia occurs.

Aged↗

PubMed1994

Hereditary motor and sensory neuropathy type I: clinical and neurographical features of the 17p duplication subtype.

Forty-four affected individuals, aged 8-68 years (mean 34 years), from six families with hereditary motor and sensory neuropathy type I (HMSN I, Charcot-Marie-Tooth disease type 1) were investigated to determine the clinical and electroneurographical characteristics of the HMSN I subtype that is defined by the presence of a DNA duplication on chromosome 17p. Motor nerve conduction velocity (MNCV) and, to a lesser extent, compound muscle action potential amplitude, were inversely related to clinical severity. Neither clinical severity nor MNCV were significantly related to age. These results suggest that the primary pathological process is not, or only slightly active after childhood.

Action Potentials↗

PubMed1993

Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients.

Autosomal dominant of Charcot-Marie-Tooth disease (CMT), whose gene is type 1B (CMT1B), has slow nerve conduction with demyelinated Schwann cells. In this study the abundant peripheral myelin protein zero (MPZ) gene, MPZ, was mapped 130 kb centromeric to the Fc receptor immunoglobulin gene cluster in band 1q22, and a major MPZ point mutation was found to cosegregate with CMT1B in one large CMT1B family. The MPZ point mutation in 18 of 18 related CMT1B pedigree 1 patients converts a positively charged lysine in codon 96 to a negatively charged glutamate. The same MPZ locus cosegregates with the CMT1B disease gene in a second CMT1B family [total multipoint logarithm of odds (lod) = 11.4 at theta = 0.00] with a splice junction mutation. Both mutations occur in MPZ protein regions otherwise conserved identically in human, rat, and cow since these species diverged 100 million years ago. MPZ protein, expressed exclusively in myelinated peripheral nerve Schwann cells, constitutes > 50% of myelin protein. These mutations are anticipated to disrupt homophilic MPZ binding and result in CMT1B peripheral nerve demyelination.

Animals↗