SEARCH · PubMed Health

Results for “TOOTH DISEASES”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

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

At least 109 records · Page 6Linked to original sources

PubMed1989

Soft tissue surgery in Charcot-Marie-Tooth disease.

Ten patients with Charcot-Marie-Tooth disease have been reviewed at an average of 14 years after soft tissue procedures to correct foot deformities. No patient has so far required triple arthrodesis and the overall results as regards function, appearance and symptoms are satisfactory in all patients. It is concluded that soft tissue procedures can certainly postpone the need for triple arthrodesis and in many cases may obviate it altogether.

Adolescent↗

PubMed1996

Charcot-Marie-Tooth disease associated with hip dysplasia: a case report.

A 31-year-old woman with a known history of hip dysplasia was found to have Charcot-Marie-Tooth disease following abnormal conduction studies done at the time of surgery. Physical examination in this patient was otherwise normal, and the diagnosis of Charcot-Marie-Tooth disease had not been previously considered. This report demonstrates the importance of keeping in mind the association between hip dysplasia and Charcot-Marie-Tooth disease.

Adult↗

PubMed1986

[Deafness as a symptom of neural muscular atrophy (Charcot-Marie-Tooth disease)].

Peroneal muscular atrophy (Charcot-Marie-Tooth-disease) is a hereditary disease of the peripheral motor and sensory neurons. In most patients the distal extremities are affected but involvement of the cranial nerves has also been described. We describe a 58 year old patient suffering from this disease accompanied by bilateral hearing loss. Audiometric examinations over a period of 10 years showed no progression and indicate a neural hearing loss. This was finally verified by auditory potentials (EAEP); J V and J III were prolonged, indicating a neural origin of hearing loss. Thus the lesion must be localised to the cranial nerves or brainstem and represent a symptom of the peroneal muscular atrophy.

Audiometry, Pure-Tone↗

PubMed1986

Leber's optic neuropathy and Charcot-Marie-Tooth disease. Report of a case.

The case of a patient with Charcot-Marie-Tooth disease who developed the acute fundus findings of Leber's optic neuropathy is described. Previous reports have proposed a genetic interrelationship between the two diseases. This relationship has been speculative, however, because the acute fundus findings of Leber's have never been observed in a case of Charcot-Marie-Tooth disease. This case adds support for a suggested genetic relationship between the two diseases. It is also possible that the optic atrophy previously described in Charcot-Marie-Tooth may represent the late findings of Leber's optic neuropathy.

Charcot-Marie-Tooth Disease↗

PubMed1992

The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication.

Charcot-Marie-Tooth disease (CMT1) is the most common form of inherited peripheral neuropathy. Although the disease is genetically heterogeneous, it has been demonstrated that the gene defect is the most frequent type (CMT1A) is the result of a partial duplication of band 17p11.2. Recent studies suggested that the peripheral hypomyelination syndrome in the trembler (Tr) mouse, a possible animal model for CMT1 disease, is associated with a point mutation in the peripheral myelin protein-22 gene (pmp-22). Expression of pmp-22 is particularly high in Schwann cells, and the protein is found in peripheral myelin. We now report that the human PMP-22 gene is contained within the CMT1A duplication. We therefore, suggest that increased dosage of the PMP-22 gene may be the cause of CMT1A neuropathy.

Base Sequence↗

PubMed1999

Studies in transgenic mice indicate a loss of connexin32 function in X-linked Charcot-Marie-Tooth disease.

X-linked Charcot-Marie-Tooth disease (CMTX) is an inherited demyelinating neuropathy caused by mutations in the gene encoding the gap junction protein connexin32 (Cx32). Despite the identification of over 160 different mutations in the Cx32 coding sequence, it is not known whether the mutations cause the disease manifestations through a loss of Cx32 function or through toxic effects on peripheral nerve. We created transgenic mice with a frameshift mutation at codon 175 (175fs), identified in a large CMTX pedigree. Light microscopic examination of the peripheral nerves from adult transgenic animals showed no pathological features. Western blotting did not show transgenic Cx32 protein in any of the 26 lines, although expression of transgenic messenger RNA was detected by reverse-transcriptase polymerase chain reaction and by ribonuclease protection assay. Our findings indicate that the 175fs mutation results in a loss of Cx32 function, without additional toxic effects.

Animals↗

PubMed2006

SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations.

Charcot-Marie-Tooth disease type 1C (CMT1C) is caused by mutations in the small integral membrane protein of the lysosome/late endosome (SIMPLE). We analyzed the coding sequence of SIMPLE in DNA of 53 unrelated cases of dominant demyelinating CMT disease with no mutations in PMP22, GJB1, MPZ, EGR2, and NEFL genes. Four different missense mutations were observed in six families. The mutation Gly112Ser was found in two families confirming its frequent occurrence in SIMPLE mutations. Three novel mutations were also identified: Ala111Gly (two families), Pro135Ser, and Pro135Thr. Familial studies revealed that all carriers of mutations (n = 38), aged from 1 to 78 years, were symptomatic, notably children under 10 years (n = 8). Motor conduction velocities in the median nerve ranked from 16.4 to 32.8 m/s (n = 20). In our series of 968 unrelated dominant demyelinating CMT cases (1992-2005), the percentage of SIMPLE mutations was 0.6 (6/968).

Adolescent↗

PubMed1993

Connexin mutations in X-linked Charcot-Marie-Tooth disease.

X-linked Charcot-Marie-Tooth disease (CMTX) is a form of hereditary neuropathy with demyelination. Recently, this disorder was mapped to chromosome Xq13.1. The gene for the gap junction protein connexin32 is located in the same chromosomal segment, which led to its consideration as a candidate gene for CMTX. With the use of Northern (RNA) blot and immunohistochemistry technique, it was found that connexin32 is normally expressed in myelinated peripheral nerve. Direct sequencing of the connexin32 gene showed seven different mutations in affected persons from eight CMTX families. These findings, a demonstration of inherited defects in a gap junction protein, suggest that connexin32 plays an important role in peripheral nerve.

Amino Acid Sequence↗

PubMed2001

Disability and quality of life in Charcot-Marie-Tooth disease type 1.

OBJECTIVES: Charcot-Marie-Tooth disease type I (CMT1) is a hereditary sensorimotor neuropathy causing variable degrees of handicap. The risk for relevant disability in respect to genetic counselling is unknown. An attempt was made to define it. METHODS: Disability and ambulation of 50 patients with CMT1 were scored by the Hauser ambulation index score and the Rankin scale. Rankin score 2 was subdivided into 2a (independent without relevant slowness) and 2b (independent, though at the cost of excessive time consumption). The sickness impact profile was assessed and compared with patients 6 months after stroke who were without mental deficit. To define at which degree sickness and disability become relevant for genetic counselling, the patients were asked whether they would refrain from childbearing if the children were at risk of inheriting a disease that caused as much disability as they experienced themselves. RESULTS: Subdivision of Rankin score 2 was reliable and improved validity. High disability significantly predicted an attitude against childbearing (stepwise logistic regression) only with this subdivision. Thirty six per cent of the patients voted against childbearing. The cut off for relevant disability in respect to childbearing was a Rankin score higher than 2a, which was present in 44% of the patients. Psychosocial impact was comparable with patients with stroke and similar disability. Depression was present in 18% of the patients. CONCLUSION: Subdivision of Rankin score 2 is recommended for the assessment of longstanding disability in neuromuscular disorders. Disability becomes relevant for the attitude towards childbearing as soon as everyday activities become markedly slow (Rankin score 2b). Relevant disability occurred in 44% of the patients. Emotional stress in CMT is similar to that of patients with stroke and comparable disability.

Adolescent↗

PubMed2003

Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A).

Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy. The predominant subtype, CMT-1A, accounts for more than 50% of all cases and is associated with an interstitial chromosomal duplication of 17p12 (refs. 2,3). We have generated a model of CMT-1A by introducing extra copies of the responsible disease gene, Pmp22 (encoding the peripheral myelin protein of 22 kDa), into transgenic rats. Here, we used this model to test whether progesterone, a regulator of the myelin genes Pmp22 and myelin protein zero (Mpz) in cultured Schwann cells, can modulate the progressive neuropathy caused by moderate overexpression of Pmp22. Male transgenic rats (n = 84) were randomly assigned into three treatment groups: progesterone, progesterone antagonist (onapristone) and placebo control. Daily administration of progesterone elevated the steady-state levels of Pmp22 and Mpz mRNA in the sciatic nerve, resulting in enhanced Schwann cell pathology and a more progressive clinical neuropathy. In contrast, administration of the selective progesterone receptor antagonist reduced overexpression of Pmp22 and improved the CMT phenotype, without obvious side effects, in wild-type or transgenic rats. Taken together, these data provide proof of principle that the progesterone receptor of myelin-forming Schwann cells is a promising pharmacological target for therapy of CMT-1A.

Animals↗

PubMed2002

Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease.

X-linked Charcot-Marie-Tooth disease (CMTX) is a hereditary demyelinating neuropathy caused by mutations in the connexin 32 (Cx32) gene. Cx32 is widely expressed in brain and peripheral nerve, yet clinical manifestations of CMTX mainly arise from peripheral neuropathy. We have evaluated two male patients with CMTX who on separate occasions developed transient ataxia, dysarthria, and weakness within 3 days of returning from ski trips at altitudes above 8,000 feet. Magnetic resonance imaging studies in both patients showed nonenhancing, confluent, and symmetrical white matter abnormalities that were more pronounced posteriorly and that resolved over several months. Magnetic transfer images in one patient demonstrated increased magnetization transfer ratios distinct from that seen in demyelination or edema. Both patients returned to their normal baseline within 2 to 3 weeks. These cases suggest that CMTX patients are at risk for developing an acute, transient, neurological syndrome when they travel to places at high altitudes and return to sea level. Cx32 mutations may cause central nervous system dysfunction by reducing the number of functioning gap junctions between oligodendrocytes and astrocytes, making both cells more susceptible to abnormalities of intercellular exchange of ions and small molecules in situations of metabolic stress.

Adolescent↗

PubMed2000

Macro-EMG and muscle biopsy of paretic foot dorsiflexors in Charcot-Marie-Tooth disease.

Twelve patients with Charcot-Marie-Tooth disease type 1 (CMT1) and 11 with type 2 (CMT2), with a clinically similar range of muscle weakness of foot dorsiflexion, were subjected to macroelectromyographic (macro-EMG) examination and muscle biopsy of the tibialis anterior (TA) muscle in order to elucidate the denervation-reinnervation process in the two CMT forms. The macro-EMG examination showed higher median amplitude values and median area values for the CMT1 patients, with a mean value of 1,515 +/- 1,222 microV and 3,953 +/- 2,613 microV. ms, respectively, than for the CMT2 patients, with a mean value of 865 +/- 971 microV and 2,525 +/- 2,575 microV. ms, respectively. When corrected for muscle fiber area, the difference was statistically significant for amplitude (P < 0.01) and area (P < 0.05). For CMT1 patients, the increase of macro-EMG potentials varied from 2 to 14 times and for CMT2 patients from less than 1 to 8 times larger than corresponding age-matched values. Muscle biopsies of TA showed that the type I fiber percentage was significantly higher (P < 0.05) in the CMT1 patients (99 +/- 2.2%) than in the CMT2 patients (86 +/- 12.3%). Morphometric data showed a significantly higher (P < 0.05) mean type I fiber area in the CMT2 patients (8,130 +/- 4,721 microm(2)) when compared with the CMT1 patients (5,066 +/- 3,431 microm(2)). The present data indicate that denervation in CMT1 is associated with prominent collateral reinnervation but only minor muscle fiber changes, whereas in CMT2 there is only minor collateral reinnervation but prominent muscle fiber changes including significant muscle fiber hypertrophy.

Adult↗

PubMed1999

Deletion and nonsense mutations of the connexin 32 gene associated with Charcot-Marie-Tooth disease.

Two patients with a mild to moderate phenotype of Charcot-Marie-Tooth disease were identified to carry the mutations of the connexin (Cx) 32 gene. One of the patient had a novel nonsense mutation of tryptophan at amino acid 132 and the other had a deletion of the Cx 32 gene. Our study indicated that a loss of Cx 32 function contributes to a major pathogenesis of X-linked Charcot-Marie-Tooth disease.

Adult↗

PubMed2002

A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths.

Mutations in the myotubularin-related protein 2 gene on chromosome 11q22 are known to cause autosomal recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths. We screened the coding region of the myotubularin-related protein 2 gene in a Turkish consanguineous Charcot-Marie-Tooth disease family compatible with linkage to chromosome 11q22. A homozygous cytosine to thymine missense mutation at nucleotide position 847, resulting in an amino acid substitution of arginine to tryptophan at codon 283, was detected in exon 9 of the MTMR2 gene. This is the second homozygous missense mutation associated with recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths.

Adolescent↗

PubMed2001

Linkage of a new locus for autosomal recessive axonal form of Charcot-Marie-Tooth disease to chromosome 8q21.3.

We report the clinical and genetic linkage analysis of a large Tunisian family with thirteen affected patients suffering from Charcot-Marie-Tooth disease with pyramidal involvement. The inheritance is autosomal recessive. The clinical phenotype is consistent in all patients. It is characterized by onset during the first decade, a progressive course and distal atrophy in all four limbs, associated with a mild pyramidal syndrome. Nerve biopsy in two patients showed severe axonal neuropathy. Genetic linkage excluded known loci of different genetic forms of Charcot-Marie-Tooth disease, familial spastic paraplegia and familial amyotrophic lateral sclerosis. A significant lod score was obtained with marker D8S286, confirming linkage to chromosome 8q21.3. The clinical syndrome observed in this family seems to correspond to a new genetic form of autosomal recessive Charcot-Marie-Tooth disease.

Adult↗

PubMed1998

Charcot-Marie-Tooth disease--muscle biopsy findings in relation to neurophysiology.

Nine patients with Charcot-Marie-Tooth disease with reduced motor nerve conduction velocity (MNCV), i.e. type 1 (CMT1), demyelinating form, and nine patients with Charcot-Marie-Tooth disease with normal or near-normal MNCV, i.e. type 2 (CMT2), axonal form, were subjected to percutaneous muscle biopsy from the anterior tibial muscle in order to characterize histopathological abnormalities and evaluate differences between the two groups. Data from the biopsies were compared with those from 18 age- and sex-matched healthy controls. Muscle biopsies from the CMT1 patients exhibited angular atrophic fibres that were scattered or in small groups, findings commonly described as neuropathic. Muscle biopsies from the CMT2 patients exhibited atrophic fibres that were rounded or elongated in groups and hypertrophic fibres with central nuclei and fibre splitting. There were also increased amounts of connective tissue, 'whorled fibres', degeneration and signs of regeneration, findings commonly regarded as myopathic. In conclusion, muscle biopsies from patients with CMT1 and CMT2 showed markedly different histopathological abnormalities. Possible underlying mechanisms are discussed.

Adult↗

PubMed1975

A family with Charcot-Marie-Tooth disease and Leber's optic atrophy.

A family has been studied in which members of 4 generations were affected by the hypertrophic type of Charcot-Marie-Tooth disease. The diagnosis was confirmed by electrophysiological studies and by sural nerve biopsy. 10 members of the family, 8 males and 2 females, developed optic atrophy of acute onset with progression over a period of two to six months. The history of visual failure, its maternal inheritance, and the neuro-ophthalmological findings of optic atrophy with bilateral central scotomata were typical of Leber's optic atrophy. 2 members of the family suffered from both Charcot-Marie-Tooth disease and Leber's optic atrophy. There have been a few previous reports of optic atrophy associated with Charcot-Marie-Tooth disease, and in the present family both conditions appeared to have been inherited independently.

Adolescent↗

PubMed1984

The importance of quantitative electron microscopy in studying hypertrophic neuropathies. A comparison between a case of Déjérine Sottas disease (HMSN III) and a case of the hypertrophic form of Charcot-Marie-Tooth disease (HMSN I).

The electron microscopic features and quantitative morphometric data of the sural nerve in Déjérine-Sottas disease (HMSN III) and in the hypertrophic form of Charcot-Marie-Tooth disease (HMSN I) are reported. Both forms are characterized by onion bulb formations, but they differ in: a) increased incidence of mucoid connective tissue in DS disease; b) higher incidence of demyelination in DS disease; c) uniformly small size of the remaining myelinated fibers in DS disease; d) larger and more developed onion bulbs in DS disease; e) clusters of 2-4 myelinated fibers in the core of onion bulbs of CMT disease; f) peripheral concentric lamellae with the typical aspects of the denervation bands of the unmyelinated fiber type in the onion bulbs of the CMT disease; g) non-involvement of unmyelinated fibers in DS disease. These differences permit two types of onion bulbs to be distinguished, and suggest a different pathogenesis. Electron microscopy, coupled with quantitative determinations, permits a deeper insight into the formation modalities of onion bulbs and may help in the diagnosis of the different forms of hypertrophic neuropathies.

Adolescent↗