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PubMed2006

A family with X-linked optic atrophy linked to the OPA2 locus Xp11.4-Xp11.2.

Autosomal dominant optic atrophy (ADOA) is the most common inherited optic atrophy. Clinical features of ADOA include a slowly progressive bilateral loss of visual acuity, constriction of peripheral visual fields, central scotomas, and color vision abnormalities. Although ADOA is the most commonly inherited optic atrophy, autosomal recessive, X-linked, mitochondrial, and sporadic forms have also been reported. Four families with X-linked optic atrophy (XLOA) were previously described. One family was subsequently linked to Xp11.4-Xp11.2 (OPA2). This investigation studied one multi-generation family with an apparently X-linked form of optic atrophy and compared their clinical characteristics with those of the previously described families, and determined whether this family was linked to the same genetic locus. Fifteen individuals in a three-generation Idaho family underwent complete eye examination, color vision testing, automated perimetry, and fundus photography. Polymorphic markers were used to genotype each individual and to determine linkage. Visual acuities ranged from 20/30 to 20/100. All affected subjects had significant optic nerve pallor. Obligate female carriers were clinically unaffected. Preliminary linkage analysis (LOD score = 1.8) revealed that the disease gene localized to the OPA2 locus on Xp11.4-Xp11.2. Four forms of inherited optic neuropathy, ADOA, autosomal recessive optic atrophy (Costeff Syndrome), Leber hereditary optic neuropathy, and Charcot-Marie-Tooth disease with optic atrophy, are associated with mitochondrial dysfunction. Future identification of the XLOA gene will reveal whether this form of optic atrophy is also associated with a mitochondrial defect. Identification of the XLOA gene will advance our understanding of the inherited optic neuropathies and perhaps suggest treatments for these diseases. An improved understanding of inherited optic neuropathies may in turn advance our understanding of acquired optic nerve diseases, such as glaucoma and ischemic optic neuropathy.

Chromosomes, Human, X↗
PubMed2005

Distinct disease mechanisms in peripheral neuropathies due to altered peripheral myelin protein 22 gene dosage or a Pmp22 point mutation.

Point mutations affecting PMP22 can cause hereditary demyelinating and dysmyelinating peripheral neuropathies. In addition, duplication and deletion of PMP22 are associated with Charcot-Marie-Tooth disease Type 1A (CMT1A) and Hereditary Neuropathy with Liability to Pressure Palsy (HNPP), respectively. This study was designed to elucidate disease processes caused by misexpression of Pmp22 and, at the same time, to gain further information on the controversial molecular function of PMP22. To this end, we took advantage of the unique resource of a set of various Pmp22 mutant mice to carry out comparative expression profiling of mutant and wild-type sciatic nerves. Tissues derived from Pmp22-/- ("knockout"), Pmp22tg (increased Pmp22 copy number), and Trembler (Tr; point mutation in Pmp22) mutant mice were analyzed at two developmental stages: (i) at postnatal day (P)4, when normal myelination has just started and primary causative defects of the mutations are expected to be apparent, and (ii) at P60, with the goal of obtaining information on secondary disease effects. Interestingly, the three Pmp22 mutants exhibited distinct profiles of gene expression, suggesting different disease mechanisms. Increased expression of genes involved in cell cycle regulation and DNA replication is characteristic and specific for the early stage in Pmp22-/- mice, supporting a primary function of PMP22 in the regulation of Schwann cell proliferation. In the Tr mutant, a distinguishing feature is the high expression of stress response genes. Both Tr and Pmp22tg mice show strongly reduced expression of genes important for cholesterol synthesis at P4, a characteristic that is common to all three mutants at P60. Finally, we have identified a number of candidate genes that may play important roles in the disease process or in myelination per se.

Animals↗
PubMed1996

[Neurologic diseases and chromosome 17].

On the short arm of the 17th chromosome is a peripheral myelin protein (PMP22) the duplication or point mutation of which causes the development of some congenital autosomal dominant hereditary demyelinization neuropathies: the most frequent variants of Charcot-Marie-Tooth disease (CMT1A), some cases of Déjérine-Sottas disease and microdeletion of PMP22 and hereditary pressure neuropathies. The pericentric section of the long arm of chromosome 17 comprises a locus conditioning the development of the most frequent phacomatosis-neurofibromatosis 1. As to rarer neuromuscular diseases, genome mutations of chromosome 17 condition the development of some cases of autosomal recessive forms of severe muscular dystrophy (SCARMD), a clinical analogue of Duchenne's form of muscular dystrophy, metabolic storage myopathy of Pompe's type and some muscle diseases associated with impaired function of the ion channels (hyperkalaemic periodic paralysis, congenital paramyotonia, some cases of malignant hyperthermia). Aspartoacylase deficiency, conditioning Canavan's leucodystrophy was also located in the area of the short arm of chromosome 17.

Chromosomes, Human, Pair 17↗
PubMed2001

The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.

We identified three distinct mutations and six mutant alleles in GDAP1 in three families with axonal Charcot-Marie-Tooth (CMT) neuropathy and vocal cord paresis, which were previously linked to the CMT4A locus on chromosome 8q21.1. These results establish the molecular etiology of CMT4A (MIM 214400) and suggest that it may be associated with both axonal and demyelinating phenotypes.

Age of Onset↗
PubMed2000

Oral symptoms and signs in elderly patients with type 2 diabetes mellitus. A focus on diabetic neuropathy.

OBJECTIVE: We investigated oral disorders and compared the findings with the occurrence of neuropathy in type 2 diabetes mellitus. STUDY DESIGN: Mucosal diseases, tooth loss, and temporomandibular joint dysfunction were examined in 45 patients with long-term type 2 diabetes mellitus and in 77 control subjects. The occurrence of neuropathy was evaluated by neurophysiologic tests. RESULTS: Of patients with diabetes, 56% suffered from dry mouth and 18% from glossodynia; of controls, correspondingly, 36% and 7% (P <.05); 2 or more mucosal lesions were detected in 42% and 20%, respectively (P =. 008). Temporomandibular joint dysfunction was found in 27% of subjects with diabetes and in 16% of control subjects. Peripheral neuropathy was present in 42% of patients with diabetes and in none of the controls (P <.01), and autonomic parasympathetic neuropathy in 54% and 31%, respectively (P =.02). Peripheral and autonomic parasympathetic neuropathies were independent risk factors for tooth loss and temporomandibular dysfunction. CONCLUSIONS: Diabetic neuropathy was found to be associated with tooth loss and temporomandibular joint dysfunction.

Age Factors↗
PubMed1993

The oral health burden in the United States: a summary of recent epidemiologic studies.

The nation's health care system is currently under scrutiny. A topic of great interest to the dental community is whether dentistry should be included in a plan for national health reform, and if so, what procedures should be covered. To answer this question, 1) the current oral disease burden in the United States should be assessed, and 2) factors associated with this burden should be described. This paper reviews several recent large-scale epidemiologic surveys of oral health in the United States, summarizes their major findings, outlines important risk factors for oral disease, and makes recommendations regarding future oral epidemiologic surveys. The discussion is limited to the following conditions: dental caries, periodontal diseases, tooth loss, edentulism, oral cancer, and orofacial clefts. Five out of six 17-year-olds have at least one decayed, missing, or filled tooth surface (DMFS), with a mean of eight DMFS per 17-year-old. However, 25 percent of the country's children have 75 percent of the dental caries; minority children, rural dwellers, those with minimal exposure to fluoride, and those from less educated or poorer families tend to have a greater caries experience. Root caries, gingivitis, periodontal pockets, and loss of periodontal attachment are more common among older individuals. Whites have more teeth than do Blacks of similar ages, and edentulism is more common among those with less education and income. Of those age 65+, over 40 percent are edentulous and only 2 percent have all 28 teeth. An estimated 30,000 new cases and 8,000 deaths were attributed to oral cancer in 1991, with Black males having higher incidence and mortality rates than other subgroups. Oral clefts occur in about one in 700 total births, with Native Americans having the highest incidence.

Adolescent↗
PubMed2004

A cohort study found racial differences in dental insurance, utilization, and the effect of care on quality of life.

OBJECTIVE: To describe racial differences in receipt of dental services and dental insurance; and to determine the effectiveness of specific dental services in facilitating recovery in symptom-specific and race-specific subgroups. STUDY DESIGN AND SETTING: Using a restricted cohort analytic method, Florida Dental Care Study prospective cohort data were used to quantify associations between dental service use and the quality of life measure, "recovery" from oral disadvantage due to functional limitation. RESULTS: Non-Hispanic Whites (NHW) were more likely to have a dental visit [odds ratio (OR); 95% confidence interval: 3.5; 2.2-5.3], corrective treatment (OR=2.1; 1.3-3.3), caps (OR=28.8; 6.6-126.4), and dental insurance coverage for caps (OR=2.9; 1.4-5.9). After adjusting for other covariates: (1) among NHW with severe gum disease, those receiving extractions were more likely to recover (OR=7.8; 1.0-59.1), but those receiving caps were less likely to recover (OR=0.1; 0.01-0.6); (2) among Non-Hispanic Blacks (NHB) with a sensitive tooth, those receiving corrective treatment (OR=3.2; 1.2-8.8) or extractions (OR=3.8; 1.3-11.2) were more likely to recover; (3) among NHB with tooth disease, those receiving corrective treatment (OR=2.3; 1.0-5.0) and extractions (OR=2.8; 1.2-6.5) were more likely to recover. CONCLUSION: There were racial differences in dental insurance, in the receipt of dental services and in the effectiveness of dental services in improving oral health-related quality of life.

Black or African American↗
PubMed2005

A comparative analysis of periapical health based on historic and current data.

AIM: To compare periapical health using samples from prehistoric and historic periods until the present day, and to emphasize the major risk indicators for apical periodontitis (AP). METHODOLOGY: A comparative survey to assess periapical health was performed on five samples (525 individuals) drawn from different periods of history within the time frame 2000 BC to 2000 AD. Twenty-one binary risk indicators for AP were retained for a logistic regression model. The probability of a diseased tooth was defined from a two-level response variable based on the periapical index (PAI). An individual regression model was computed with partial least squares (PLS) regression model, based on the individual mean values of the nine retained risk indicators. RESULTS: Condensing osteitis, tooth wear, caries, root fillings and the presence of inadequate root fillings were associated with the PAI levels. The maxillary molars and recent time periods (contemporaneous and seventeenth century) were also risk indicators for the pathological condition. The PLS regression for individuals demonstrated correlations between risk factors. This multidimensional analysis indicated that the mean PAI was correlated mainly with caries and condensing osteitis. Condensing osteitis was more frequent in the mandibular than in the maxillary bone (P=0.001), and correlated with tooth wear in ancient periods. CONCLUSIONS: This comparative analysis demonstrated a significantly higher prevalence of AP in the contemporary period. The most important risk indicators for that period were the presence of inadequate root fillings, carious lesions and condensing osteitis.

Adolescent↗
PubMed2003

Diagnosis of hereditary neuropathies in adult patients.

This paper reviews the clinical diagnostic approach to hereditary neuropathies in adults by analysing: elements that point to a neuropathy of inherited origin, different modalities of presentation, laboratory and instrumental diagnostic tests, including molecular tests, symptoms and signs of involvement of other organs. Different phenotypes may be identified according to: disease course; involvement of motor, sensory, autonomic fibres; site of lesion (neuropathy versus neuronopathy); calibre of involved fibres (small-fibre versus large-fibre neuropathy); presence of distinctive symptoms (neuropathic pain); involvement of other organs or apparatus. Charcot-Marie-Tooth disease, Familial Amyloid Polyneuropathy, Hereditary Sensory and Autonomic Neuropathy, Fabry disease, Tangier disease, Porphyric Neuropathies, Refsum disease, Hereditary Neuropathy with liability to Pressure Palsies, Hereditary Neuralgic Amyotrophy, and other rare disorders involving the peripheral nervous system are reviewed.

Acute Disease↗
PubMed2001

Tooth and periodontal disease: a review for the primary-care physician.

Dental diseases are widespread and are often underrecognized and treated. Caries and periodontal disease are common dental conditions that cause the majority of tooth loss. Although these conditions are preventable, many persons do not receive regular dental care and have acute problems when seen by their physician. Dental diseases frequently affect patients with multiple systemic disorders, including autoimmune disorders, diabetes, and human immunodeficiency virus (HIV) infection. The presence of dental disease may trigger inflammatory responses and have systemic consequences. Since dental disease affects almost all individuals, physicians should be able to recognize common conditions such as caries, periodontal disease, pulpitis, and dental abscess. In addition to initiating treatment and appropriate dental referrals, physicians should be familiar with the management of antibiotics and medications in the perioperative period. Another important role for physicians is to help reduce the societal and economic impact of these diseases through patient education and prevention.

Humans↗
PubMed2006

Translucent quartz-fiber post luted in vivo with self-curing composite cement: case report and microscopic examination at a two-year clinical follow-up.

A maxillary central incisor with mild periodontitis and extensive loss of coronal tooth structure was endodontically treated and restored with a translucent quartz-fiber post and a composite core. Treatment was completed with the cementation of full-ceramic crowns on teeth 11 and 21. Informed consent was obtained from the patient. Due to the extent of the periodontal disease, tooth 11 was extracted two years later. With the patient's consent, the tooth was used for research. The tooth was sectioned at 11 levels perpendicularly to the long axis and investigated by means of optical microscopy and scanning electron microscope (SEM). The visual examination showed perfect adhesion between the various interfaces (restoration-dentin-post) at both the coronal and root levels. The adhesion between the post and dentin appeared to be free of gaps, and even where the composite cement showed a nonhomogeneous thickness, voids were not apparent. The tooth under examination allowed the authors to check the effectiveness of the adhesion and the integrity of the hybrid layer after exposure to the oral cavity for two years. The results of this investigation show that there were no gaps between the adhesive resin and dentin and no hydrolysis of the adhesive bond. This case suggests that it is possible to obtain good results in the short term from the cementation of quartz-fiber posts with composite resin cements.

Cementation↗
PubMed2003

Leigh disease with mitochondrial DNA A8344G mutation: case report and brief review.

Leigh disease, subacute necrotizing encephalomyelopathy, is a neurodegenerative disorder often seen in infancy or childhood but rarely reported in adults. Genetic heterogeneity is well recognized, and the associated etiologies include both mitochondrial and nuclear DNA defects. We describe an infant presenting with developmental delay and then progressive multisystem disorder and neuroradiologic features of Leigh disease. He and his maternal relatives all have the A8344G mitochondrial DNA mutation. However, only minor clinical features are seen in his maternal relatives, with migraine being the most common problem. Additionally the A8344G mitochondrial DNA mutation is associated with spinocerebellar degeneration, other nonspecific mitochondrial encephalomyopathies, atypical Charcot-Marie-Tooth disease, and progressive external ophthalmoplegia. The A8344G mitochondrial DNA mutation may present with Leigh disease or other different atypical clinical features without myoclonic epilepsy and ragged red fibers.

Brain↗
PubMedDate not supplied

Axonal pathology in myelin disorders.

Myelination provides extrinsic trophic signals that influence normal maturation and long-term survival of axons. The extent of axonal involvement in diseases affecting myelin or myelin forming cells has traditionally been underestimated. There are, however, many examples of axon damage as a consequence of dysmyelinating or demyelinating disorders. More than a century ago, Charcot described the pathology of multiple sclerosis (MS) in terms of demyelination and relative sparing of axons. Recent reports demonstrate a strong correlation between inflammatory demyelination in MS lesions and axonal transection, indicating axonal loss at disease onset. Disruption of axons is also observed in experimental allergic encephalomyelitis and in Theiler's murine encephalomyelitis virus disease, two animal models of inflammatory demyelinating CNS disease. A number of dysmyelinating mouse mutants with axonal pathology have provided insights regarding cellular and molecular mechanisms of axon degeneration. For example, the myelin-associated glycoprotein and proteolipid protein have been shown to be essential for mediating myelin-derived trophic signals to axons. Patients with the inherited peripheral neuropathy Charcot-Marie Tooth disease type 1 develop symptomatic progressive axonal loss due to abnormal Schwann cell expression of peripheral myelin protein 22. The data summarized in this review indicate that axonal damage is an integral part of myelin disease, and that loss of axons contributes to the irreversible functional impairment observed in affected individuals. Early neuroprotection should be considered as an additional therapeutic option for these patients.

Animals↗
PubMed2006

Fatigue and neuromuscular diseases.

PURPOSE: To identify the role of fatigue, its evaluation and its causes in the pathophysiology context of acquired or hereditary neuromuscular diseases of the spinal anterior horn cell, peripheral nerve, neuromuscular junction and muscle. MATERIAL AND METHODS: A literature review has been done on Medline with the following keywords: neuromuscular disease, peripheral neuropathy, myopathy, fatigue assessment, exercise intolerance, force assessment, fatigue scale and questionnaire, then with the terms: Fatigue Severity Scale, Chalder Fatigue Scale, Fatigue Questionnaire, Piper Fatigue Scale, electromyography and the combination of the word Fatigue with the following terms: Amyotrophic Lateral Sclerosis (ALS), Post-Polio Syndrome (PPS), Guillain-Barre Syndrome, Immune Neuropathy, Charcot-Marie-Tooth Disease, Myasthenia Gravis (MG), Metabolic Myopathy, Mitochondrial Myopathy, Muscular Dystrophy, Facioscapulohumeral Dystrophy, Myotonic Dystrophy. RESULTS: Fatigue is a symptom very frequently reported by patients. Fatigue is mainly evaluated by strength loss after an exercise, by change in electromyographic activity during a given exercise and by questionnaires that takes into account the subjective (psychological) part of fatigue. Due to the large diversity of motor disorders, there are multiple clinical expressions of fatigue that differ in their presentation, consequences and therapeutic approach. CONCLUSION: This review shows that fatigue has to be taken into account in patients with neuromuscular diseases. In this context, pathophysiology of fatigue often implies the motor component but the disease evolution and the physical obligates of daily life also induce an important psychological component.

Fatigue↗
PubMed2000

Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway.

Myotubular myopathy (MTM1) is an X-linked disease, characterized by severe neonatal hypotonia and generalized muscle weakness, with pathological features suggesting an impairment in maturation of muscle fibres. The MTM1 gene encodes a protein (myotubularin) with a phosphotyrosine phosphatase consensus. It defines a family of at least nine genes in man, including the antiphosphatase hMTMR5/Sbf1 and hMTMR2, recently found mutated in a recessive form of Charcot-Marie-Tooth disease. Myotubularin shows a dual specificity protein phosphatase activity in vitro. We have performed an in vivo test of tyrosine phosphatase activity in Schizosaccharomyces pombe, indicating that myotubularin does not have a broad specificity tyrosine phosphatase activity. Expression of active human myotubularin inhibited growth of S.pombe and induced a vacuolar phenotype similar to that of mutants of the vacuolar protein sorting (VPS) pathway and notably of mutants of VPS34, a phosphatidylinositol 3-kinase (PI3K). In S.pombe cells deleted for the endogenous MTM homologous gene, expression of human myotubularin decreased the level of phosphatidylinositol 3-phosphate (PI3P). We have created a substrate trap mutant which shows relocalization to plasma membrane projections (spikes) in HeLa cells and was inactive in the S.pombe assay. This mutant, but not the wild-type or a phosphatase site mutant, was able to immunoprecipitate a VPS34 kinase activity. Wild-type myotubularin was also able to directly dephosphorylate PI3P and PI4P in vitro. Myotubularin may thus decrease PI3P levels by down-regulating PI3K activity and by directly degrading PI3P.

Animals↗
PubMed1989

Immunochemical study of connectin (titin) in neuromuscular diseases using a monoclonal antibody: connectin is degraded extensively in Duchenne muscular dystrophy.

Connectin (also called titin) is a myofibrillar elastic filament which links a thick filament to a neighbouring Z line in a sarcomere and thus contributes significantly to the elastic property of myofibrils. In the present study, the degradation state of connectin in biopsied skeletal muscles from various neuromuscular diseases was investigated by Western blot analysis using a monoclonal antibody which reacts extensively with the degradation products of connectin. In Duchenne muscular dystrophy (DMD), connectin was degraded progressively and relentlessly after 5 years of age. In Becker muscular dystrophy, degradation of connectin was much less than in DMD. Connectin was well preserved in normal controls, and was only minimally degraded in Charcot-Marie-Tooth disease, amyotrophic lateral sclerosis, limb girdle muscular dystrophy and myotonic dystrophy, even when the biopsied muscles showed a similar degree of weakness as those of DMD. The degradation of connectin, even though secondary, is presumed to play an important role in the pathogenesis of myofibrillar degeneration in DMD.

Adolescent↗
PubMed1995

[Deletion of 17p11.2 chromosome in Spanish families with hereditary neuropathy and abnormal sensitivity to pressure].

Hereditary neuropathy with abnormal liability to pressure palsies (HNPP) is a dominant autosomally transmitted disease that gives rise to foci of peripheral nerve myelination, reducing conduction and leading to episodes of palsy and sensory changes that are all linked to sensitivity to pressure and traction on the affected nerve roots. The molecular basis of HNPP has been identified as a submicroscopic deletion of the 17p11.2 chromosome in exactly the same region that it is duplicated in Charcot-Marie-Tooth disease, type 1A (CMT1A). We report genetic analyses of 13 patients (belonging to 3 families) diagnosed of HNPP by means of physical examination and electrophysiologic and morphologic tests (the last in 3 cases only). Inter- and intrafamilial variation in symptomatology was studied. Some patients presented the usual clinical signs, such as recidivating brachial plexus palsy, permanent sensory polyneuropathy, foot deformities and others that might also be found in patients with CMT1A. All the patients showed electrophysiologic signs of underlying demyelinating polyneuropathy. Genetic study centered on detecting the deletion of 17p11.2 by segregation analysis with the polymorphic markers VAW409R3a (D17S122) and EW401HE (D17S61). Our results confirmed deletion at the CTM1A location of chromosome 17p11.2 in all 13 patients examined. These data suggest that the deletion of 17p11.2 plays a causal role in HNPP and that it is the most prevalent mutation in this disease; our findings constitute new evidence of the importance of the CMT1A/HNPP locus in the formation and control of peripheral myelin and in the ultimate functioning of peripheral nerves.

Adult↗