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At least 991 records · Page 55Linked to original sources
PubMed1998

[Hereditary diseases with tooth anomalies and their causal genes].

In this review, we describe the current knowledge and the advances in research on human genes whose defect leads to dental anomalies. Recently, it was demonstrated that a missense mutation of a human homeobox MSX1 gene causes autosomal dominant agenesis of second premolars and third molars. X-linked anhidrotic ectodermal dysplasia (EDA), characterized by abnormal hair, teeth, and sweat glands, was demonstrated to be caused by a mutation in a novel transmembrane protein gene that is expressed in epithelial cells and in other adult and fetal tissues. The autosomal dominant Rieger syndrome (RS) manifests hypodontia, adontia, iridogoniodysgenesis and umbilical anomalies. Recently, a novel homeobox gene, RIEG, of Otx family was cloned as a causal gene of RS. The several mutations have been reported on the genes causing hypophosphatasia, which is characterized by defective mineralization of the skeletal and dental structures. An autosomal dominant dentinogenesis imperfecta (DI) is mostly associated with osteogenesis imperfecta (OI). Most patients with DI have mutations in either the COL1A1 or COL1A2 genes of type I collagen. Amelogenesis imperfecta (AI) is a diverse group of hereditary disorders characterized by a variety of developmental enamel defects including hypoplasia and hypomineralization, some of which have been revealed to be associated with defective amelogenin genes.

Alkaline Phosphatase↗
PubMed1997

Dynamics of hip joint remodeling after Chiari osteotomy. 10 patients with neuromuscular disease followed for 8 years.

We analyzed the development of 10 hips in 10 consecutive patients with neuromuscular disease (9 with spasticity, 1 with Charcot-Marie-Tooth disease) who had undergone Chiari osteotomy for painful hip subluxation or dislocation. The patients were 11 (5-19) years old at surgery and follow-up time was 8 (6-11) years. The Chiari osteotomy particularly improved and maintained femoral head coverage. These parameters did not show the postoperative deterioration noted in some other studies. The osteotomy did not improve femoral head lateral displacement. Throughout the postoperative period, the configuration of the proximal femur and the height of the joint cartilage were unchanged and undisturbed, indicating that osteotomy did not place excessive or uneven pressure on the femoral head. The ambulatory status of the patients was dependent on the severity of the underlying disease, and was not improved by osteotomy. However, pain associated with subluxation or dislocation was reduced in 9 of the patients.

Activities of Daily Living↗
PubMed2003

Focally folded myelin in Charcot-Marie-Tooth type 1B disease is associated with Asn131Lys mutation in myelin protein zero gene: short report.

Charcot-Marie-Tooth disease type 1B (CMT1B) is a demyelinating neuropathy inherited as an autosomal dominant trait. The majority of CMT1B cases are caused by mutations in the myelin protein zero (P0) gene (MPZ). Only a few mutations in MPZ gene have been reported to be associated with focally folded myelin sheaths. We have studied five patients from one family with five generations, affected by CMT1B disease. The morphological studies of sural nerve biopsy performed in the proband revealed fibers with focally folded myelin. DNA sequencing analysis showed the Asn131Lys mutation in the MPZ gene in three members of the affected family.

Asparagine↗
PubMed2005

The structure and regulation of myotubularin phosphatases.

The human neuromuscular diseases X-linked myotubular myopathy and Charcot-Marie-Tooth disease type 4B are caused by mutations in myotubularin family proteins. The myotubularins are a unique subfamily of protein tyrosine phosphatases that utilize inositol phospholipids, rather than phosphoproteins, as substrates. Recent structural studies, including the first crystal structure of a myotubularin family protein, have defined the structural features that are characteristic of the family and revealed the molecular basis of their unique substrate specificity. Interestingly, the myotubularin family contains a subgroup of proteins that are catalytically inactive. Recent biochemical studies have established that the inactive myotubularins function as adaptors for the active members and play an important regulatory role within the family.

Charcot-Marie-Tooth Disease↗
PubMed1993

Molecular genetics of neurodegenerative diseases.

Recent progress in human neurogenetics has led to the discovery of new modes of inheritance and disease expression, including 1) stably inherited duplications in Charcot-Marie-Tooth disease type 1a, 2) dynamic mutations in fragile X syndrome and myotonic dystrophy, and 3) identical mutations with different phenotypes in fatal familial insomnia and Creutzfeldt-Jakob disease. The mechanisms by which known mutations of the amyloid precursor protein lead to early-onset Alzheimer's disease remain unexplained, despite hundreds of recent studies of beta-amyloid.

Amyloid beta-Protein Precursor↗
PubMed1993

Glial biology and disorders.

Much work has been devoted this year to the localization and mode of expression of growth factors and cytokines. Although it is not possible to extrapolate directly from in vitro to in vivo conditions, the plasticity of glial cells seems to be very influenced by growth factors. Astrocytes in vivo do not express many growth factors during normal conditions, but a pathologic event can lift these restrictions. Cytokines and their receptors have been localized on neuronal or glial cell types. The programmed cell death, well identified in neurons, seems to occur also in oligodendrocytes and may be influenced by survival factors. In the adult brain, glial progenitors are present and may be a potential source to generate myelinating oligodendrocytes for myelin repair. In the peripheral nervous system, axonal-Schwann cell signaling may function in both directions during development. Some animal neurologic mutants are models for human diseases; one of them, the Trembler mouse, has effectively led to the genetic characterization of Charcot-Marie-Tooth disease type 1a. As for myelin destruction, the relationship between demyelination and inflammation is still not very clear.

Cell Death↗
PubMed1982

Ataxia and other data reviewed in Charcot-Marie-Tooth and Refsum's disease.

The author reports his experience on Refsum's disease and that gained after personally examining in detail 64 patients with Charcot-Marie-Tooth disease over the past ten years. The "cerebellar" inco-ordination in Charcot-Marie-Tooth disease (with or without distal wasting) and in Refsum's disease is analysed. Some variations in the motor and sensory neuropathy of Charcot-Marie-Tooth disease and Refsum's disease are discussed. The adequacy of motor conduction velocity in genetically distinguishing types of the above mentioned familial peripheral neuropathies is reviewed. Data on the neuropathy assessed by modern techniques of three original patients of Roussy and Levy (1926) are given. The possibility of extensor plantar responses in patients with Charcot-Marie-Tooth and Refsum's disease without structural lesion of the pyramidal tract is pointed out. The existence of the association between Friedreich's ataxia and Charcot-Marie-Tooth disease is criticised. It is emphasised that spinocerebellar degeneration (other than Friedreich's ataxia) presenting with distal limb weakness and wasting and sensory impairment may mimic Charcot-Marie-Tooth disease.

Adolescent↗
PubMed1994

Detection of tandem duplications and implications for linkage analysis.

The first demonstration of an autosomal dominant human disease caused by segmental trisomy came in 1991 for Charcot-Marie-Tooth disease type 1A (CMT1A). For this disorder, the segmental trisomy is due to a large tandem duplication of 1.5 Mb of DNA located on chromosome 17p11.2-p12. The search for the CMT1A disease gene was misdirected and impeded because some chromosome 17 genetic markers that are linked to CMT1A lie within this duplication. To better understand how such a duplication might affect genetic analyses in the context of disease gene mapping, we studied the effects of marker duplication on transmission probabilities of marker alleles, on linkage analysis of an autosomal dominant disease, and on tests of linkage homogeneity. We demonstrate that the undetected presence of a duplication distorts transmission ratios, hampers fine localization of the disease gene, and increases false evidence of linkage heterogeneity. In addition, we devised a likelihood-based method for detecting the presence of a tandemly duplicated marker when one is suspected. We tested our methods through computer simulations and on CMT1A pedigrees genotyped at several chromosome 17 markers. On the simulated data, our method detected 96% of duplicated markers (with a false-positive rate of 5%). On the CMT1A data our method successfully identified two of three loci that are duplicated (with no false positives). This method could be used to identify duplicated markers in other regions of the genome and could be used to delineate the extent of duplications similar to that involved in CMT1A.

Alleles↗