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At least 919 records · Page 51Linked to original sources
PubMed2005

Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot-Marie-Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE.

Charcot-Marie-Tooth disease is a genetically heterogeneous group of neuropathies. In the demyelinating form of Charcot-Marie-Tooth disease with dominant inheritance, five genes have been incriminated: PMP22, MPZ, LITAF/SIMPLE, EGR2 (CMT1A to D), and GJB1 (CMTX). Here, we report clinical, electrophysiological and molecular genetic studies in a family with a Charcot-Marie-Tooth disease variable phenotype, ranging from asymptomatic to moderately affected. The absence of male-to-male transmission as well as the results of systematic electrophysiological studies suggested a CMTX secondary to a GJB1 mutation. Screening for mutations in the coding regions of PMP22, MPZ, EGR2 and GJB1 was negative. We identified (1) a LITAF/SIMPLE substitution (T49M), absent in 1000 control chromosomes, but which was thought to be a polymorphism because of discrepancies of segregation when considering the results of electrophysiology; and (2) a novel substitution T>C in the P2 promoter of GJB1 at position -529, in the SOX10 binding site S2. The transmission of this second mutation was consistent with the electrophysiological data. We emphasise the role of electrophysiological studies that help to discriminate between asymptomatic subjects and that bring some additional valuable data to the genetic approach.

Adolescent↗
PubMed1999

Longitudinal study of predictive factors for periodontal disease and tooth loss.

Longitudinal assessment of risk factors for periodontal disease is necessary to provide evidence that a putative risk factor or risk indicator is a true risk factor. The purpose of the present study was to explore longitudinally a variety of markers as possible periodontal risk factors in subjects with little or no periodontal disease at baseline. 415 subjects with mild or little periodontal disease were examined: medical and dental history; socioeconomic profile, clinical measurements, microbial samples and radiographic assessment of bone height were performed at baseline, and at a follow-up examination 2 to 5 years later. Mean probing pocket depth (PPD) at baseline was 1.99+/-0.37 mm while mean overall change was 0.1 mm which amounts to an annual rate of 0.04 mm. Overall mean clinical attachment level (1.75+/-0.6 mm) at baseline resulted in mean attachment change of 0.28 mm (0.12 mm annually). Alveolar crestal height (ACH) at baseline (mean 2.05+/-0.85 mm) resulting in a mean net loss of 0.1 mm. Approximately 10% of all sites presented for the second visit with attachment loss exceeding the threshold (4.4% annually), while only 2.2% of all sites exhibited attachment gain (0.88% annually). Older individuals exhibited greater mean bone loss but the least amount of attachment loss. Current smokers exhibited greater disease progression compared to non-smokers. Tooth morbidity (0.17 teeth/patient/year) was associated with greater baseline CAL and ACH loss, and an assortment of systemic conditions. Subjects who harbored Bacteroides forsythus (Bf) at baseline had greater loss in ACH; likewise, these subjects experienced greater proportions of losing sites and twice as much tooth mortality compared to Bf-negative patients. Baseline clinical parameters correlated strongly with the outcome, i.e., subjects with deeper mean pocket depth at baseline exhibited greater increase in pocket depth overtime; while subjects with greater attachment loss at baseline exhibited greater attachment loss between the 1st and 2nd visits.

Adult↗
PubMed1998

Apathy and hypersomnia are common features of myotonic dystrophy.

OBJECTIVES: Myotonic dystrophy is a disease characterised by myotonia and muscle weakness. Psychiatric disorder and sleep problems have also been considered important features of the illness. This study investigated the extent to which apathy, major depression, and hypersomnolence were present. The objective was to clarify if the apathy reported anecdotally was a feature of CNS involvement or if this was attributable to major depression, hypersomnolence, or a consequence of chronic muscle weakness. METHODS: These features were studied in 36 adults with non-congenital myotonic dystrophy and 13 patients with Charcot-Marie-Tooth disease. By using patients with Charcot-Marie-Tooth disease as a comparison group the aim was to control for the disabling effects of having an inherited chronic neurological disease causing muscle weakness. Standardised assessment instruments were used wherever possible to facilitate comparison with other groups reported in the medical literature. RESULTS: There was no excess of major depression on cross sectional analysis in these patients with mild myotonic dystrophy. However, apathy was a prominent feature of myotonic dystrophy in comparison with a similarly disabled group of patients with Charcot-Marie-Tooth disease (clinician rated score; Mann Whitney U test, p=0.0005). Rates of hypersomnolence were greater in the myotonic dystrophy group, occurring in 39% of myotonic dystrophy patients, but there was no correlation with apathy. CONCLUSION: These data suggest that apathy and hypersomnia are independent and common features of myotonic dystrophy. Apathy cannot be accounted for by clinical depression or peripheral muscle weakness and is therefore likely to reflect CNS involvement. These features of the disease impair quality of life and may be treatable.

Activities of Daily Living↗
PubMed1997

[Morbid associations in Crohn's disease. Study of a series of 832 patients].

OBJECTIVES: Depending its frequency, the association in the same subject of Crohn's disease and another pathology can be fortuitous or the expression of genetic or environmental interrelationships. The aim of our study was to identify among a series of patients with Crohn's disease preliminary data which would be suggestive of a significant association between Crohn's disease and other pathologies. PATIENTS AND METHODS: Personal and familial histories were collected in 832 patients with Crohn's disease who were seen consecutively in the same hospital clinic from 1974 to 1994. RESULTS: We found 4 cases (0.5%) of associated Crohn's disease-multiple sclerosis and Crohn's disease-rheumatoid purpura in the same patient. Each of the following genetic diseases was associated with Crohn's disease in one patient (0.1%): Charcot-Marie-Tooth disease, deuteroanopia, multiple exostosis, familial ichthyosis, periodic disease. CONCLUSION: We describe for the first time sporadic cases of associated Crohn's disease and another rare disease, Charcot-Marie-Tooth disease, familial ichthyosis and periodic disease. We suggest that there is a significant interrelationship between personal and familial histories of Crohn's disease and multiple sclerosis which should be verified in prospective studies.

Adult↗
PubMed2000

Cigar, pipe, and cigarette smoking as risk factors for periodontal disease and tooth loss.

BACKGROUND: Our purpose was to test the hypotheses that cigar and pipe smoking have significant associations with periodontal disease and cigar, pipe, and cigarette smoking is associated with tooth loss. We also investigated whether a history of smoking habits cessation may affect the risk of periodontal disease and tooth loss. METHODS: A group of 705 individuals (21 to 92 years-old) who were among volunteer participants in the ongoing Baltimore Longitudinal Study of Aging were examined clinically to assess their periodontal status and tooth loss. A structured interview was used to assess the participants' smoking behaviors with regard to cigarettes, cigar, and pipe smoking status. For a given tobacco product, current smokers were defined as individuals who at the time of examination continued to smoke daily. Former heavy smokers were defined as individuals who have smoked daily for 10 or more years and who had quit smoking. Non-smokers included individuals with a previous history of smoking for less than 10 years or no history of smoking. RESULTS: Cigarette and cigar/pipe smokers had a higher prevalence of moderate and severe periodontitis and higher prevalence and extent of attachment loss and gingival recession than non-smokers, suggesting poorer periodontal health in smokers. In addition, smokers had less gingival bleeding and higher number of missing teeth than non-smokers. Current cigarette smokers had the highest prevalence of moderate and severe periodontitis (25.7%) compared to former cigarette smokers (20.2%), and non-smokers (13.1%). The estimated prevalence of moderate and severe periodontitis in current or former cigar/pipe smokers was 17.6%. A similar pattern was seen for other periodontal measurements including the percentages of teeth with > or = 5 mm attachment loss and probing depth, > or = 3 mm gingival recession, and dental calculus. Current, former, and non- cigarette smokers had 5.1, 3.9, and 2.8 missing teeth, respectively. Cigar/pipe smokers had on average 4 missing teeth. Multiple regression analysis also showed that current tobacco smokers may have increased risks of having moderate and severe periodontitis than former smokers. However, smoking behaviors explained only small percentages (<5%) of the variances in the multivariate models. CONCLUSION: The results suggest that cigar and pipe smoking may have similar adverse effects on periodontal health and tooth loss as cigarette smoking. Smoking cessation efforts should be considered as a means of improving periodontal health and reducing tooth loss in heavy smokers of cigarettes, cigars, and pipes with periodontal disease.

Adult↗
PubMed1982

Posterior tibial tendon transfer: a review of the literature and analysis of 74 procedures.

At Rancho Los Amigos Hospital on the Children's Orthopedic Service, 43 patients underwent anterior transfer of the posterior tibial tendon through the interosseous membrane between 1969 and 1979. This included 74 procedures for the following diagnoses: Duchenne muscular dystrophy, club-foot, cerebrospastic disease (cerebral palsy and head injury), Charcot-Marie-Tooth disease, scapuloperoneal dystrophy, and peroneal palsy. The purpose of this paper is to present the 54 of these transfers that have a minimum 2 year follow-up were performed with a uniform surgical technique, and had uniform postoperative management. This series is analyzed and compared with a review of the literature in order to set down guidelines for the use of the procedure. The analysis reveals that the patient with Duchenne muscular dystrophy who has decreasing gait function or brace fitting problems is the ideal candidate for the procedure with 26 of 28 satisfactory results. Gait electromyography was critical to the selection of the cerebrospastic patient for the transfer with those patients demonstrating swing-phase function of the posterior tibialis muscle yielding the best results. Finally, posterior tibial tendon transfer is generally not indicated in congenital clubfoot with six unsatisfactory results in 10 procedures, and the procedure should not be done in Charcot-Marie-Tooth disease as part of staged treatment that includes a possible future hindfoot stabilization.

Cerebral Palsy↗
PubMed1999

A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype.

BACKGROUND: Three loci for autosomal dominant hereditary motor and sensory neuropathy type I (HMSN I) or Charcot-Marie-Tooth disease type 1 (CMT1) have been identified on chromosomes 17p11.2 (CMT1A), 1q21-q23 (CMT1B), and 10q21.1-q22.1 (designated here as CMT1D). The genes involved are peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ), and the early growth response element 2 (EGR2), respectively. Probably a fourth locus (CMT1C) exists since some autosomal dominant HMSN I families have been excluded for linkage with the CMT1A and CMT1B loci. Four loci for autosomal dominant hereditary motor and sensory neuropathy type II (HMSN II) or Charcot-Marie-Tooth disease type 2 (CMT2) have been localized on chromosomes 1p35-p36 (CMT2A), 3q13-q22 (CMT2B), 7p14 (CMT2D), and 3p (HMSN-P). OBJECTIVE: To describe the clinical, electrophysiologic, and neuropathological features of a novel type of Charcot-Marie-Tooth disease. PATIENTS AND METHODS: We performed linkage studies with anonymous DNA markers flanking the known CMT1 and CMT2 loci. Patients and their relatives underwent clinical neurologic examination and electrophysiologic testing. In the proband, a sural nerve biopsy specimen was examined. RESULTS: Linkage studies excluded all known CMT1 and CMT2 loci. The clinical phenotype is mild and almost all affected individuals remain asymptomatic. Electrophysiologic and histopathological studies showed signs of a demyelinating neuropathy, but the phenotype is unusual for either autosomal dominant HMSN I or HMSN II. CONCLUSION: Our findings indicate that the HMSN in this family represents a novel clinical and genetic entity.

Biopsy↗
PubMedDate not supplied

[Pes valgoplanus in Friedreich and Charcot-Marie-Tooth-Hoffmann disease].

An increasingly severe hollow foot deformity is typical of Friedreich's hereditary ataxia and Charcot-Marie-Tooth's progressive muscular atrophy. However, on the basis of personal observations it has been found that in infancy, patients with either of these diseases may have an extreme pes valgoplanus. The retrospective analysis presented here is intended to draw attention to this possibility and to point out that these diseases should also be taken into consideration in the differential diagnosis of the cause of a pes valgoplanus.

Adolescent↗
PubMed2004

Mutations in the Myelin Protein Zero result in a spectrum of Charcot-Marie-Tooth phenotypes.

Initially the Myelin Protein Zero gene was shown to be mutated in the demyelinating form of Charcot-Marie-Tooth disease (CMT1). The vast majority of the mutations in the Myelin Protein Zero gene have been detected in the Charcot-Marie-Tooth (1B) disease, however, some of them were found in patients suffering from congenital hypomyelinating neuropathy and axonal type Charcot-Marie-Tooth disease. In this study, a Charcot-Marie-Tooth disease phenotype diversity associated with different mutations in the MPZ gene, is described.

Charcot-Marie-Tooth Disease↗
PubMed1991

Familial trigeminal neuralgia and Charcot-Marie-Tooth neuropathy. Report of two families and review.

Typical trigeminal neuralgia has occasionally occurred in multiple members of the same family over several generations. The clinical features of such cases, including the increased incidence in females, and the absence of other apparent hereditary, neurologic, metabolic, or structural abnormalities were identical to those of sporadic cases. More rarely, familial trigeminal neuralgia has been described in the setting of hereditary peripheral neuropathy, especially Charcot-Marie-Tooth disease. We describe patients from two different families with Charcot-Marie-Tooth disease and medically intractable trigeminal neuralgia. Both patients were successfully treated by percutaneous retrogasserian glycerol rhizolysis. The occurrence of cranial nerve symptoms in patients with demyelinating peripheral neuropathies is discussed in light of the current hypotheses regarding the etiology of trigeminal neuralgia.

Charcot-Marie-Tooth Disease↗
PubMedDate not supplied

[Advances in the molecular genetics of the hereditary neuropathies].

OBJECTIVE: We reviewed current knowledge of the molecular and genetic bases of hereditary peripheral neuropathies, with special emphasis on the senso motor neuropathies and their different clinical phenotypes. DEVELOPMENT: The peripheral neuropathies show great clinical variability and genetic heterogeneity. To date 12 genes and over 20 genetic loci have been described in relation to Charcot Marie Tooth disease and related neuropathies. The commonest form is the type 1A Charcot Marie Tooth disease (CMT1A) caused by tandem duplication of a monomer of 1.5 megabases (Mb) on chromosome 17q11.2. The CMT 1A duplication is found in 70% of the patients with CMT 1. The deletion of 1.5 Mb is the most prevalent mutation (85%) in hereditary neuropathy with susceptibility to paralysis due to pressure. This monomer includes the PMP22 gene which is affected by a genetic dose effect. The different proteins encoded by the genes described are well expressed in the Schwann cell and in the nerve axon. They have different functions. There are the structural proteins of myelin, transcription factors, cytoskeleton components, molecular motors of the microtubules, proteins involved in growth and cellular differentiation or with presumed enzyme activity. CONCLUSIONS: Diagnosis of molecular pathology is important for genetic counselling. The development of new treatment for hereditary neuropathies is based on the generation of animal models for the different genes and on understanding the role of the proteins involved in axon Schwann cell interaction.

Animals↗