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PubMedDate not supplied

Ophthalmic manifestations and complications of dental disease in dogs and cats.

Ophthalmic manifestations of dental disease may occur in dogs and cats because of the proximity between posterior maxillary teeth and the orbit. Ophthalmic disorders may be diagnosed promptly, but the initiating dental disease may be overlooked. Inappropriate diagnosis and treatment of dental disease may result in loss of teeth, irreversible vision-threatening ophthalmic disease, or, ultimately, loss of the globe. When ophthalmic examination results are suggestive of a primary dental disorder, thorough examination of the maxillary teeth is imperative to diagnose appropriately the underlying dental disease. Therapy should include treatment of the dental disease and secondary ophthalmic disorders.

Animals↗
PubMed2005

New treatments for denervating diseases.

There has been considerable recent progress in understanding mechanisms by which gene mutations cause degeneration of motoneurons and peripheral nerves. Novel therapies inspired by these insights have begun to yield promising results in mouse models of these genetic diseases. Among these have been the use of small molecules or proteins to suppress gain-of-function mutations (eg, ascorbic acid for Charcot-Marie-Tooth disease type 1A) or to restore enzyme activities that are deficient because of loss-of-function mutations (eg, treatment of Fabry's disease with recombinant alpha-galactosidase or with low-molecular-weight alpha-galactosidase chaperones and treatment of spinal muscular atrophy with phenylbutyrate). Some of these therapies are already being tested in humans. Equally exciting is the prospect that small molecules and proteins will be identified that exert potent therapeutic effects in a broad spectrum of inherited and acquired motoneuron and peripheral nerve disorders.

Animals↗
PubMed1997

Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy.

Hereditary neuropathy with liability to pressure palsy (HNPP) is associated with a heterozygous 1.5 megabase deletion on chromosome 17 that includes the peripheral myelin protein (PMP) gene PMP22. We show that heterozygous PMP22 knock-out mice, which carry only one functional pmp22 allele and thus genetically mimic HNPP closely, display similar morphological and electrophysiological features as observed in HNPP nerves. As reported previously, focal hypermyelinating structures called tomacula, the pathological hallmarks of HNPP, develop progressively in young PMP22(+/0) mice. By following the fate of tomacula during aging, we demonstrate now that these mutant animals are also interesting models for examining HNPP disease mechanisms. Subtle electrophysiological abnormalities are detected in PMP22(+/0) mice >1 year old, and a significant number of abnormally swollen and degenerating tomacula are present. Thinly myelinated axons and supernumerary Schwann cells forming onion bulbs as fingerprints of repeated cycles of demyelination and remyelination are also encountered frequently. Quantitative analyses using electron microscopy on cross sections and light microscopy on single teased nerve fibers suggest that tomacula are intrinsically unstable structures that are prone to degeneration; however, the severity of morphological and electrophysiological abnormalities in PMP22(+/0) mice is variable. These combined findings are reminiscent of the disease progression in HNPP and offer a possible explanation about why some HNPP patients develop a chronic motor and sensory neuropathy later in life that resembles demyelinating forms of Charcot-Marie-Tooth disease by both morphological and clinical criteria.

Aging↗
PubMed1989

Quantitative measures of neurological function in chronic neuromuscular diseases and ataxia.

Interexaminer and intraexaminer reliability were determined for 30 quantitative measures of neurological function, including sensory threshold, tendon reflexes, maximum isometric strength, and timed tests and coded ratings of functional ability, in patients with Charcot-Marie-Tooth disease (n = 30), idiopathic polyneuropathy (n = 16) and spinocerebellar degeneration (n = 30). Five of 6 sensory and reflex measures had interexaminer reliability greater than 0.80 when the neurologists' examinations were 1 h apart; 2 of 7 achieved this level when the examinations were separated by 1 month. Interexaminer reliability between physical therapists was greater than 0.80 for 19 of 20 measures of strength and functional ability. Intraexaminer reliability coefficients greater than 0.80 were found for 13 of 24 sensory and reflex measures, 28 of 30 isometric strength measures, 24 of 30 timed tests and 5 of 6 coded ratings of functional ability. Electro-oculography, oral diadochokinetic syllable rates, hand and foot accelerometry, and tracings of sine and square waves were examined as quantitative indices of ataxia for patients with spinocerebellar degeneration. Of 11 measures of ataxia, only the oral diadochokinetic syllable rate test had acceptable reliability.

Activities of Daily Living↗
PubMed1985

X-linked motor-sensory neuropathy type-II with deafness and mental retardation: a new disorder.

We report on a family with an apparently X-linked neuromuscular disease. Electrophysiologic tests and electron microscopic studies are consistent with the diagnosis of hereditary motor sensory neuropathy type II (HMSN-II), one form of Charcot-Marie-Tooth disease. The manner of inheritance, the observation that males are severely affected from infancy, and the frequent association of deafness and/or mental retardation with the neuromuscular disorder are not usual for HMSN-II and suggest that this family may have a previously undescribed genetic disorder. The peripheral neuropathy did not appear to be linked to the Xg blood group. Minor abnormalities of sensory nerve conduction, electromyography, and hearing were separately identified in female relatives in this family, but were not consistent enough to be useful in the identification of carriers for this gene.

Adult↗
PubMed2002

Mutation analysis of the MPZ and PMP22 genes in Croatian patients.

We used single-strand conformation polymorphism analysis for mutational screening in two candidate genes, MPZ and PMP22, which have an important role in the pathogenesis of Charcot-Marie-Tooth disease (CMT) and related peripheral neuropathies. A novel Ser8Ser polymorphism was found in exon 1 of the MPZ gene in two heterozygous subjects, in a father with mild CMT2 phenotype and his daughter with normal clinical data. Thr118Met polymorphism was found in exon 5 of the PMP22 gene. The patient heterozygous for 118Met allele had CMT1 disease. We can conclude that the occurrence of the 118Met allele does not usually cause CMT1 and that it is not a clinically relevant disease marker.

Charcot-Marie-Tooth Disease↗
PubMed2005

Oral implications of osteoporosis.

OBJECTIVES: The association between osteoporosis and oral health remains a matter of controversy. It is important to confirm whether there is a role of osteoporosis in bone loss in the jaws, periodontal diseases, tooth loss, and other oral tissue changes. The objective of this article is to review and summarize the published literature on the associations between osteoporosis and various oral conditions such as bone loss in the jaws, periodontal diseases, and tooth loss. METHODS: A search of the computerized database MEDLINE was conducted. Clinical information concerning systemic osteoporosis and animal studies reporting possible associations between osteoporosis and changes in the dental and oral tissues were included. The review focus was on studies involving (1) methods for assessing bone mineral density (BMD); (2) methods for assessing osteoporosis-related changes in intraoral sites; (3) associations between mandibular BMD and skeletal BMD; (4) changes in the jaws, periodontal tissues, and temporomandibular joint concurrent with osteoporosis; (5) changes in the oral tissues following estrogen deficiency; and (6) effects of estrogen-hormone replacement therapy and/or calcium and vitamin D on oral health. RESULTS: Ninety-seven studies conducted in various parts of the world were identified. Evidence from prospective studies supports the contention that individuals with osteoporosis may be at increased risk for the manifestations of oral osteoporosis; however, such risk is not definitively proven. Studies suggest that findings on dental panoramic radiographs may be used to detect individuals with low BMD. CONCLUSIONS: Further well-controlled studies are needed to better elucidate the inter-relationship between systemic and oral bone loss and to clarify whether dentists could usefully provide early warning for osteoporosis risk.

Alveolar Bone Loss↗
PubMed1998

Many facets of the peripheral myelin protein PMP22 in myelination and disease.

Peripheral myelin protein 22 (PMP22) is a small, hydrophobic glycoprotein, which is most prominently expressed by Schwann cells as a component of compact myelin of the peripheral nervous system (PNS). Recent progress in molecular genetics revealed that mutations affecting the PMP22 gene including duplications, deletions, and point mutations are responsible for the most common forms of hereditary peripheral neuropathies including Charcot-Marie-Tooth disease type 1A (CMT1A), hereditary neuropathy with liability to pressure palsies (HNPP), and a subtype of Dejerine-Sottas Syndrome (DSS). Functionally, PMP22 is involved in correct myelination during development of peripheral nerves, the stability of myelin, and the maintenance of axons. While most of these functions relate to a role of PMP22 as a structural component of myelin, PMP22 has also been proposed as a regulator of Schwann cell proliferation and differentiation. In this review, we will discuss our current knowledge of PMP22 and its related proteins in the normal organism as well as in disease. In particular, we will focus on how the function of PMP22 and its regulation may be relevant to particular disease mechanisms.

Animals↗
PubMed1999

Hereditary peripheral neuropathies: clinical forms, genetics, and molecular mechanisms.

Hereditary peripheral neuropathies, among the most common genetic disorders in humans, are a complex, clinically and genetically heterogeneous group of disorders that produce progressive deterioration of the peripheral nerves. This group of disorders includes hereditary neuropathy with liability to pressure palsies, Charcot-Marie-Tooth disease, Dejerine-Sottas syndrome, and congenital hypomyelinating neuropathy. Our understanding of these disorders has progressed from the description of the clinical phenotypes and delineation of the electrophysiologic and pathologic features to the identification of disease genes and elucidation of the underlying molecular mechanisms.

Charcot-Marie-Tooth Disease↗
PubMed1984

Hereditary neurodegenerative disorders in Nigerian Africans.

Of 2.1 million patients seen in 25 years at the University College Hospital, Ibadan, Nigeria, only 25 suffered from heredodegenerative disorders of the nervous system. Six patients had hereditary ataxia, 10 essential tremor, 4 Huntington's chorea, 2 ataxia telangiectasia, and 3 Charcot-Marie-Tooth disease.

Adolescent↗
PubMed2002

Diverse trafficking abnormalities of connexin32 mutants causing CMTX.

Mutations in GJB1, the gene encoding the gap junction protein connexin32 (Cx32), cause X-linked Charcot-Marie-Tooth disease (CMTX). We compared the localization of CMTX mutants that affect different domains of Cx32, by expressing them in HeLa cells. Mutants were localized to the endoplasmic reticulum (M34K, N205I, and Y211x), in the Golgi apparatus without reaching the cell membrane (M34T, V38M, A40V, R75Q, R75P, R75W, and C217x), in the Golgi apparatus but also forming rare small gap junction-like plaques (M34I, M34V, and V37M), or mainly on the cell membrane, forming gap junction-like plaques (V35M, I213V, R219C, R219H, R220G, R230C, R230L, R238H, L239I, and S281x). Selected mutants expressed in cultured rat Schwann cells showed localization similar to that in HeLa cells. Thus, many CMTX mutants have trafficking abnormalities, whereas the carboxy-terminus mutants reach the cell membrane and probably cause disease through other mechanisms.

Amino Acid Sequence↗
PubMed2003

Estimation of the inbreeding coefficient through use of genomic data.

Many linkage studies are performed in inbred populations, either small isolated populations or large populations with a long tradition of marriages between relatives. In such populations, there exist very complex genealogies with unknown loops. Therefore, the true inbreeding coefficient of an individual is often unknown. Good estimators of the inbreeding coefficient (f) are important, since it has been shown that underestimation of f may lead to false linkage conclusions. When an individual is genotyped for markers spanning the whole genome, it should be possible to use this genomic information to estimate that individual's f. To do so, we propose a maximum-likelihood method that takes marker dependencies into account through a hidden Markov model. This methodology also allows us to infer the full probability distribution of the identity-by-descent (IBD) status of the two alleles of an individual at each marker along the genome (posterior IBD probabilities) and provides a variance for the estimates. We simulate a full genome scan mimicking the true autosomal genome for (1) a first-cousin pedigree and (2) a quadruple-second-cousin pedigree. In both cases, we find that our method accurately estimates f for different marker maps. We also find that the proportion of genome IBD in an individual with a given genealogy is very variable. The approach is illustrated with data from a study of demyelinating autosomal recessive Charcot-Marie-Tooth disease.

Charcot-Marie-Tooth Disease↗
PubMed1993

Sequence of human GAS3/PMP22 full-length cDNA.

We have cloned the human growth arrest-specific gene GAS3 cDNA that encodes a transmembrane glycoprotein, the peripheral myelin protein 22 (PMP22). GAS3/PMP22 is implicated in Charcot-Marie-Tooth disease type 1A, an inherited peripheral neuropathy.

Amino Acid Sequence↗
PubMed2004

Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation.

A Czech family with three individuals carrying a novel mutation, 290 A-->T (Glu97Val), in the myelin protein zero gene (P0) is reported. The two eldest carriers developed progressive sensorineural hearing loss and abnormal pupillary reaction at age 18. These preceded the onset of the classic signs of Charcot-Marie-Tooth disease (CMT) by more than a decade. Sural nerve biopsy and nerve conduction studies were compatible with the axonal type of CMT. The authors show that progressive hearing loss can be the first symptom in P0 mutation carriers.

Adult↗