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PubMed2005

A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease.

Mutations in the gene coding for ganglioside-induced differentiation-associated protein-1 (GDAP1), which maps to chromosome 8q21, have been described in families with autosomal recessive Charcot-Marie-Tooth disease (CMT4A). Interestingly, some mutations in the GDAP1 gene have been reported in the demyelinating form of CMT1 disease, whereas others were found in patients with the axonal type of CMT disease. So far, 23 mutations in the GDAP1 gene have been reported in patients of different ethnic origins. In this study we report a novel mutation Met116Thr in the GDAP1 gene identified in a three generation Polish family with axonal CMT4.

Adult↗
PubMed1995

Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q.

Charcot-Marie-Tooth disease (CMT) is the most common inherited motor and sensory neuropathy. The neuronal form of this disorder is referred to as Charcot-Marie-Tooth type II disease (CMT2). CMT2 is usually inherited as an autosomal dominant trait with a variable age at onset of symptoms associated with progressive axonal neuropathy. In some families, the locus that predisposes to CMT2 has been demonstrated to map to the distal portion of the short arm of chromosome 1. Other families with CMT2 do not show linkage with 1p markers, suggesting genetic heterogeneity in CMT2. We investigated linkage in a single large kindred with autosomal dominant CMT2. The gene responsible for CMT2 in this kindred (CMT2B) was mapped to the interval between the microsatellite markers D3S1769 and D3S1744 in the 3q13-22 region. Study of additional CMT2 kindreds should serve to further refine the disease gene region and may ultimately lead to the identification of a gene defect that underlies the CMT2 phenotype.

Charcot-Marie-Tooth Disease↗
PubMed2003

Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene.

The molecular basis for the clinically distinct entity of deafness with Charcot-Marie-Tooth disease has not been established with certainty. The authors report deafness associated with a demyelinating neuropathy in three individuals of a family in whom a novel four-amino acid deletion in the PMP22 gene was identified. The data and review of literature suggest that in the PMP22 gene, some point mutations and small deletions in the transmembrane domain that are in close proximity to the extracellular component of the protein result in this clinically distinct entity.

Charcot-Marie-Tooth Disease↗
PubMed2003

Biochemical and molecular characterization of diseases linked to motor proteins.

Recent studies have revealed that kinesin, dynein and myosin each form large superfamilies and participate in many different intracellular transport systems. Importantly, these motor proteins play significant roles in the pathogenesis of a variety of diseases. Studies using knockout mice for kinesin KIF1B have led to the identification of the cause of a human hereditary neuropathy, Charcot-Marie-Tooth disease type 2A. The function of members of the dynein superfamily whose existence has previously only been confirmed through genome databases, has been revealed by studies of immotile cilia syndrome. Unconventional myosins have been shown to function in the inner-ear cells by examination of hereditary human hearing impairment and studies using mouse models. In addition, some diseases are caused by mutations, not in the motor itself, but in the proteins associated with the motor proteins. Here, we discuss the relationship of these motor proteins and how they contribute to disease in molecular terms.

Animals↗
PubMed2002

Neuropathology of some hereditary conditions affecting central and peripheral nervous system.

Neuropathology plays a crucial role in the phenotypic individualization of hereditary disorders affecting the central and peripheral nervous system even if molecular genetics represents the most essential step in describing the genotypes. The neuropathological description of phenotypes and genotypes can be used for refining clinical skills and understanding many clinical, neurophysiological and neuroradiological features. It contributes to the diagnosis of such disorders. The use of immunohistochemical techniques in combination with molecular genetics improves also our knowledge of their pathogenesis and might participate to the future development of therapeutic strategies. We discuss new features of spino-cerebellar ataxia (SCA) type 7 and of a recently identified SCA17 in order to illustrate the significance of the neuronal intranuclear inclusions (NIIs) described in various CAG/polyglutamine repeat expansion diseases. In the field of the peripheral neuropathies we present data on a newly described autosomal recessive Charcot-Marie-Tooth disease (CMT4F) with mutations in the periaxin gene. We document a dysjunction between myelin loops and axolemma with disappearance of the septate-like junctions or transverse bands. The significance of this dysjunction is not yet elucidated. We hope to show by these examples that the combination of classical and new neuropathological methods is useful in the study of hereditary disorders of the nervous system.

Central Nervous System↗
PubMedDate not supplied

[Spinal cord tumors simulating the clinical course of Charcot-Marie disease].

The authors describe two cases of extramedullary tumours in the vertebral canal with long (7 and 15 years) course without pains and with clinical manifestations simulating Charcot-Marie-Tooth disease. It is stressed in conclusion that sporadic cases of this disease with involvement of the lower extremities only, with normal conduction velocity in the peroneal nerves should be differentiated against spinal cord tumours situated in the vertebral canal.

Adult↗
PubMed2005

Peripheral neuropathy: the importance of history and examination for correct diagnosis.

A 48-year-old woman presented to the emergency department with hematemesis and a 6-month history of unsteady gait and falls due to tripping. Because of a history of alcohol abuse, the initial diagnosis was upper gastrointestinal bleeding secondary to alcoholic gastritis or gastric ulcer, with the neuropathy likely due to alcoholism or chronic inflammatory demyelinating polyneuropathy. After further neurological examination and careful review of nerve conduction studies, however, an inherited neuropathy was suspected. Despite denial by the patient and her daughter of a family history of neuropathy, both had a pes cavus deformity with muscle atrophy and partial foot drop gait. Subsequent testing of the daughter revealed the same nerve conduction findings as the patient's. Genetic testing showed that both women had the myelin PMP22 repeat defect characteristic of Charcot-Marie-Tooth disease. Endoscopy revealed that the patient had Osler-Weber-Rendu disease, which accounted for the hematemesis.

Alcoholism↗
PubMed2003

The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene.

Charcot-Marie-Tooth disease constitutes a genetically heterogeneous group of hereditary motor and sensory peripheral neuropathies. The axonal type of Charcot-Marie-Tooth is designated type 2. Six loci for autosomal dominant and three for recessive Charcot-Marie-Tooth type 2 have been reported so far. In this study we report the phenotype of autosomal recessive axonal Charcot-Marie-Tooth type 2 due to a recently-described mutation (c.892C>T-p.R298C) in a gene encoding Lamin A/C nuclear envelope proteins and the first gene in which a mutation leads to autosomal recessive Charcot-Marie-Tooth type 2. We have explored eight patients from four Algerian families. The onset is usually in the second decade and the course is rapid, involving upper limbs and proximal muscles, leading to a severe condition in less than 4 years. Many different mutations in Lamin A/C have been identified as causing variable phenotypes, such as limb girdle muscular dystrophy type 1B, autosomal dominant and recessive Emery-Dreyfuss muscular dystrophy, dilated cardiomyopathy with atrioventricular conduction defect, and Dunnigan-type familial partial lipodystrophy should prompt us to fully investigate the skeletal and cardiac muscles in patients affected with autosomal recessive Charcot-Marie-Tooth type 2 carrying a mutation in LMNA.

Algeria↗
PubMed1998

Novel ceramides recovered from Porphyromonas gingivalis: relationship to adult periodontitis.

The primary purpose of this study was to characterize the major structural features of ceramides recovered from Porphyromonas gingivalis, a suspected periodontal pathogen. Complex lipids extracted from P. gingivalis were treated with N, O-bis(trimethylsilyl)-trifluoroacetamide and analyzed using gas chromatography-mass spectrometry. Mass spectra of lipid derivatives revealed cleavage products consistent with structures of four major ceramides. Two of the major ceramides are proposed to contain long chain bases of either 2-amino-1,3-octadecanediol or 2-amino-1, 3-nonadecanediol in amide linkage to 3-hydroxy isobranched C17:0. The remaining major ceramides are proposed to contain either 2-amino-1,3-octadecanediol or 2-amino-1,3-nonadecanediol in amide linkage to C17:1. Alkaline hydrolysis of P. gingivalis lipids and subsequent formation of suitable derivatives revealed 3-hydroxy isobranched C17:0, C17:1, 2-amino-1,3-octadecanediol, and 2-amino-1, 3-nonadecanediol as hydrolysis products. Therefore, the constitutive fatty acids and long chain bases recovered in alkaline hydrolysis products of P. gingivalis lipids are consistent with the proposed ceramide structures. The next goal of this study was to investigate whether these bacterial ceramides exist in lipid extracts of human teeth and gingival tissue at sites of severe adult periodontitis. Using selected ion monitoring of characteristic ions and retention times for each ceramide described above, lipids from teeth and gingival tissue were shown to contain primarily the ceramides containing C17:1. It is concluded that P. gingivalis synthesizes at least four major ceramides and two of these ceramides are selectively adsorbed to diseased tooth surfaces and may penetrate into diseased gingival tissue.

Adult↗
PubMed2005

Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.

We describe clinical, electrophysiological, histopathological and molecular features of a unique disease caused by mutations in the glycyl-tRNA synthetase (GARS) gene. Sixty patients from five multigenerational families have been evaluated. The disease is characterized by adolescent onset of weakness, and atrophy of thenar and first dorsal interosseus muscles progressing to involve foot and peroneal muscles in most but not all cases. Mild to moderate sensory deficits develop in a minority of patients. Neurophysiologically confirmed chronic denervation in distal muscles with reduced compound motor action potentials were features consistent with both motor neuronal and axonal pathology. Sural nerve biopsy showed mild to moderate selective loss of small- and medium-sized myelinated and small unmyelinated axons, although sensory nerve action potentials were not significantly decreased. Based on the presence or absence of sensory changes, the disease phenotype was initially defined as distal spinal muscular atrophy type V (dSMA-V) in three families, Charcot-Marie-Tooth disease type 2D (CMT2D) in a single family, and as either dSMA-V or CMT2D in patients of another large family. Linkage to chromosome 7p15 and the presence of disease-associated heterozygous GARS mutations have been identified in patients from each of the five studied families. We conclude that patients with GARS mutations present a clinical continuum of predominantly motor distal neuronopathy/axonopathy with mild to moderate sensory involvement that varies between the families and between members of the same family. Awareness of these overlapping clinical phenotypes associated with mutations in GARS will facilitate identification of this disorder in additional families and direct future research toward better understanding of its pathogenesis.

Adolescent↗
PubMedDate not supplied

[Age assessment at the time of death based on panoramic radiography].

BACKGROUND: The determination of age at the time of death is an important method in forensic anthropology and paleodemography. The possible postmortem investigation of the teeth and jaws enables the determination of age at the time of death, as the bones and teeth are both resistant to degradation in soil and characterized by age-related morphological changes. The aim of this study was to determine whether the age-related changes visible on panoramic radiography correlated with age, and enabled the assessment of individual age. METHODS: Seven radiographic parameters were used in the study: tooth loss, occlusal tooth wear, pulp stones, carious teeth, periapical disease, tooth restoration, and alveolar bone loss associated with periodontal disease. RESULTS: The material comprised 314 dental panoramic tomograms of living patients of both sexes with documented age (18 to 77 years). Multiple regression equations were constructed for the age estimation, including four parameters (the number of missing teeth, the number of intact teeth, the distance of cement-enamel junction from the alveolar ridge, the number of abraded teeth). The nature of data treated by regression analysis required the careful choice of parameters, appropriate functional model for each parameter, and the experience of the investigator. With the four parameters included in equations, the error was +/- 2.55 years. CONCLUSION: This preliminary analysis showed that the conventional regression technique could be appropriate for the age estimation based on panoramic radiography, and that an additional study with a larger sample and on wider population was required.

Adolescent↗
PubMed2002

Friedreich's ataxia mimicking hereditary motor and sensory neuropathy.

Four patients from three unrelated families, with clinical and electrophysiological findings compatible with the diagnosis of hereditary motor and sensory neuropathy, are presented. The molecular analysis showed that the affected individuals were homozygous for the mutation in the X25 gene, characteristic of Friedreich's ataxia. These patients seem to represent a form of Friedreich's ataxia mimicking Charcot-Marie-Tooth disease.

Adult↗
PubMed2000

Intracellular transport, assembly, and degradation of wild-type and disease-linked mutant gap junction proteins.

More than 130 different mutations in the gap junction integral plasma membrane protein connexin32 (Cx32) have been linked to the human peripheral neuropathy X-linked Charcot-Marie-Tooth disease (CMTX). How these various mutants are processed by the cell and the mechanism(s) by which they cause CMTX are unknown. To address these issues, we have studied the intracellular transport, assembly, and degradation of three CMTX-linked Cx32 mutants stably expressed in PC12 cells. Each mutant had a distinct fate: E208K Cx32 appeared to be retained in the endoplasmic reticulum (ER), whereas both the E186K and R142W mutants were transported to perinuclear compartments from which they trafficked either to lysosomes (R142W Cx32) or back to the ER (E186K Cx32). Despite these differences, each mutant was soluble in nonionic detergent but unable to assemble into homomeric connexons. Degradation of both mutant and wild-type connexins was rapid (t(1/2) < 3 h) and took place at least in part in the ER by a process sensitive to proteasome inhibitors. The mutants studied are therefore unlikely to cause disease by accumulating in degradation-resistant aggregates but instead are efficiently cleared from the cell by quality control processes that prevent abnormal connexin molecules from traversing the secretory pathway.

Animals↗
PubMed2004

A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin.

Charcot-Marie-Tooth type 1B disease is a demyelinating neuropathy caused by mutations in the Myelin Protein Zero gene. It is inherited in an autosomal dominant fashion. So far only a few patients with a focally folded myelin phenotype on nerve biopsy have been shown to have mutations in the Myelin Protein Zero gene. In this report we describe a Polish patient with Charcot-Marie-Tooth type 1B disease. Sural nerve biopsy demonstrated focally folded myelin. Molecular genetic analysis of the coding region of the Myelin Protein Zero gene revealed a novel mutation, Thr65Ala, in exon 2 of the Myelin Protein Zero gene.

Adult↗
PubMed2003

The knowledge and practices of oral hygiene methods and attendance pattern among school teachers in Riyadh, Saudi Arabia.

OBJECTIVE: The aim of this study was to find out the knowledge and practices of oral hygiene methods among primary and secondary school teachers in Riyadh, Kingdom of Saudi Arabia (KSA). METHODS: The study was carried out using a self-administered questionnaire. Four hundred and seventy teachers, male 236 (50.2%) and female 234 (48.8%) responded with a response rate of 85.5%. The study was conducted during October to December 2001 at primary and secondary schools in Riyadh City, KSA. RESULTS: Almost 86% of male and 90% of female teachers felt that dental caries is due to the wrong method of tooth brushing, while sugar and sugary drinks were considered the main factor by 90% of male and 98% of female teachers. Seventy-five percent of male and 72% of female teachers considered irregular tooth brushing a cause of gums disease with 32% of male and 39% of female teachers not knowing details with regards to microbial relationship of gum disease. Tooth brushing preference was common among 45% male and 49% female teachers due to perceived effect of better cleaning, while almost an equal percentage of male and females (62%) used miswak due to Sunnah. Thirty-three point five percent of female teachers brushed 3 times a day as compared to 19% male teachers. On daily basis brushing 3 times, a day was common among >5000 SR monthly income group. Male teachers preferred horizontal tooth brushing (40%) while female teachers preferred circular tooth brushing (45%). Miswak was more commonly used by male teachers as compared to female teachers. Female school teachers had a higher income as compared to male schoolteachers. Thirty-two percent of females and 28% of male teachers were regular attendees to the dentist. Males were more satisfied by their oral health as compared to female teachers and 56% of male and 63% of female teachers visited the dentist only on having pain (toothache). CONCLUSION: It is concluded that there is much resemblance in knowledge and practice of oral hygiene habits among male and female schoolteachers and there is a need to enhance their knowledge regarding oral health and disease. Both need more awareness regarding oral health promotion to have a positive role in school oral health education for their students in collaboration with oral health care workers.

Faculty↗
PubMed2003

[Hereditary neuropathies].

BACKGROUND: Hereditary neuropathies constitute a heterogeneous group of diseases that make up a significant proportion of peripheral nerve disease cases. MATERIAL AND METHODS: The paper is based on a review of recent literature, including searches on Medline, and our own clinical and research experience. RESULTS: Charcot-Marie-Tooth disease, itself a heterogeneous disease, is the most common hereditary neuropathy. Several variants of neuropathy are associated with hereditary metabolic disorders. Diagnostic methods include nerve conduction velocity studies and electromyography, quantitative sensory testing, molecular genetic diagnostic testing, and in selected cases processing of nerve biopsies and skin biopsies for determination of epidermal nerve fibre densities. INTERPRETATION: A thorough family history of neuropathic symptoms and signs, and preferably clinical and electrophysiological examination of relatives is essential for the diagnosis of hereditary neuropathy. Molecular genetic analysis is promising for accurate classification of these diseases. Nerve biopsy is only helpful in selected cases.

Charcot-Marie-Tooth Disease↗
PubMed2002

Identification of the regulatory region of the peripheral myelin protein 22 (PMP22) gene that directs temporal and spatial expression in development and regeneration of peripheral nerves.

Minor changes in PMP22 gene dosage have profound effects on the development and maintenance of peripheral nerves. This is evident from the genetic disease mechanisms in Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) as well as transgenic animals with altered PMP22 gene dosage. Thus, regulation of PMP22 is a crucial aspect in understanding the function of this protein in health and disease. In this study, we have generated transgenic mice containing 10 kb of the 5'-flanking region of the PMP22 gene, including the two previously identified alternative promoters, fused to a lacZ reporter gene. We show that this part of the PMP22 gene contains the necessary information to mirror the endogenous expression pattern in peripheral nerves during development and regeneration and in mouse models of demyelination due to genetic lesions. Transgene expression is strongly regulated during myelination, demyelination, and remyelination in Schwann cells, demonstrating the crucial influence of neuron-Schwann cell interactions in the regulation of PMP22. In addition, the region of the PMP22 gene present on this transgene confers also neuronal expression in sensory and motor neurons. These results provide the crucial basis for further dissection of the elements that direct the temporal and spatial regulation of the PMP22 gene and to elucidate the molecular basis of the master program regulating peripheral nerve myelination.

Animals↗
PubMed1991

Generation and fluorescent in situ hybridization mapping of yeast artificial chromosomes of 1p, 17p, 17q, and 19q from a hybrid cell line by high-density screening of an amplified library.

A yeast artificial chromosome (YAC) library has been constructed from a somatic cell hybrid containing a t(1p;19q) chromosome and chromosome 17. After amplification, part of this library was analyzed by high-density colony filter screening with a repetitive human DNA probe (Alu). The human YACs distinguished by the screening were further analyzed by Alu fingerprinting and Alu PCR. Fluorescent in situ hybridization (FISH) was performed to localize the YACs to subchromosomal regions of chromosome 1p, 17, or 19q. We have obtained a panel of 123 individual YACs with a mean size of 160 kb, and 77 of these were regionally localized by FISH: 33 to 1p, 10 to 17p, 25 to 17q, and 9 to 19q. The YACs cover a total of 19.7 Mb or 9% of the 220 Mb of human DNA contained in the hybrid. No overlapping YACs have yet been detected. These YACs are available upon request and should be helpful in mapping studies of disease loci, e.g., Charcot-Marie-Tooth disease, Miller-Dieker syndrome, hereditary breast tumor, myotonic dystrophy, and malignant hyperthermia.

Chromosome Mapping↗