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PubMed2004

Autosomal recessive forms of Charcot-Marie-Tooth disease.

In some countries with a high prevalence of consanguineous marriages, autosomal recessive inheritance is likely to account for the great majority of all forms of Charcot-Marie-Tooth (CMT) disease. As with the dominant forms, it is usual to differentiate the demyelinating forms (autosomal recessive -CMT1 or AR-CMT4) from the axonal forms (AR-CMT2). Genetic analysis of large families with recessive transmission has proved to be an efficient mean of discovering novel CMT genotypes (eg, the genes GDAP1, MTMR2, MTMR13, KIAA1985, NDGR1, periaxin, and lamin). Because of the clinical, electrophysiologic, and histologic heterogeneity of these patients, it is likely that there are numerous genes that remain to be discovered, which will probably make classification even more complex. Clinical, and especially histologic, phenotypes often lead to a suspicion that a specific gene is implicated. There is, therefore, an indication for nerve biopsy to orient diagnostic research in molecular biology, which is presently very time consuming and can only be performed in highly specialized laboratories.

Adult↗
PubMed2003

Motor unit number estimate of distal and proximal muscles in Charcot-Marie-Tooth disease.

In order to determine the utility of motor unit number estimation (MUNE) in assessing axonal loss in chronic inherited neuropathies, we determined MUNEs in 54 patients with Charcot-Marie-Tooth (CMT) disease (29 patients with CMT-1A, 13 with CMT-X, and 12 with CMT-2) by using spike-triggered averaging (STA) of the ulnar-innervated abductor digiti minimi/hypothenar muscles (ADM) and the musculo-cutaneous innervated biceps/brachialis (BB) muscles. MUNEs were analyzed in relationship to the corresponding compound muscle action potential (CMAP) amplitudes as well as to clinical strength. Proximal muscles, which appeared strong clinically, had evidence of chronic denervation/reinnervation, although to a lesser extent than weak distal hand muscles, supporting the concept that axonal loss in CMT occurs in a length-dependent fashion. The reduction in ADM-MUNE strongly correlated with clinical weakness in the hand. Both the ADM-MUNE and BB-MUNE were abnormal more often than CMAP amplitude, probably reflecting extensive motor unit reconfiguration and enlargement that maintains CMAP amplitude despite severe motor unit loss. This study suggests that MUNE can assess motor unit loss in CMT and may better reflect axonal loss than CMAP amplitude. The STA technique of MUNE may be useful in longitudinal studies of proximal and distal motor unit changes in CMT.

Action Potentials↗
PubMed1999

Myelinated fibers in Charcot-Marie-Tooth disease type 1B with Arg98His mutation of Po protein.

This study was undertaken to characterize the clinical, electrophysiologic, and histopathologic features of five presumably unrelated Japanese patients with Charcot-Marie-Tooth (CMT) disease type 1B and Arg98His substitution of Po protein and, in particular, to correlate Arg98His substitution to the ultrastructural abnormalities of the myelin sheath. Systematic morphometric studies of the sural nerve, where the CMT type 1B gene abnormality is expressed, have not been performed, especially on the basis of the type of mutation causing CMT type 1B. Electrophysiologic evaluation of limb nerves and morphometric analysis of sural nerves obtained at biopsy were performed. Ultrastructural myelin abnormalities were precisely examined. Clinical symptoms appeared from the second to the fifth decade. All probands presented with gait disturbance. Motor and sensory conduction velocities in the median and ulnar nerves ranged from 10 to 30 m/s. Segmental demyelination and remyelination and marked loss of myelinated fibers were the main findings. On electron microscopy, widening between major dense lines was found between the paired intraperiod lines, where the extramembranous portion of the Po protein resides. This widening is probably directly related to Arg98His substitution. Focal uncompaction of major dense lines coexisted with this widening. This uncompaction, which directly decreases the number of myelin lamellae, may be a secondary effect of Arg98His substitution on the intramembranous domain of Po protein. In conclusion, myelin changes at both extracellular and cytoplasmic appositions of Schwann cell membranes were found in association with Arg98His substitution of Po protein. This study contributes to a better understanding of myelin abnormalities in patients with CMT type 1B and Arg98His or other similar extramembranous amino acid substitutions of Po protein.

Adult↗
PubMed2006

Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management.

PURPOSE: An evidence-based approach was used to determine the frequency distribution of genes contributing to the Charcot-Marie-Tooth (CMT) disease phenotype. METHODS: We performed a combined analysis of 11 population-based studies from various ethnic backgrounds to generate an evidence-based testing scheme. To estimate the relative frequencies of the responsible genes for which population-based studies are not available, we used our cohort of clinically classified patients with CMT and related neuropathies collected before the availability of genetic testing. RESULTS: Similar mutation frequencies were detected in the various studies, revealing a uniform distribution of pathogenic mutations. In CMT1 70% of patients harbor the CMT1A duplication, followed by GJB1 mutations at 8.8%. MPZ and PMP22 mutations are less common, identified on average in 2.9% and 1.5% of patients, respectively. Other genes not tested in population-based studies contribute to less than 1% of disease individually. In CMT2 MFN2 mutations are the most common, although population-based studies are not yet available. CONCLUSION: CMT represents a heterogeneous group of disorders at the molecular level. Nevertheless, testing for the CMT1A duplication (i.e., duplication of PMP22) alone yields an accurate molecular diagnosis in approximately half of all patients. If one further specifies the clinical type (demyelinating vs. axonal), the yield of detecting a molecular defect increases to 75% to 80% in the demyelinating or CMT1 group with a screening test that evaluates for CMT1A duplication/hereditary neuropathy with liability to pressure palsies deletion and GJB1 point mutations.

Adult↗
PubMed1983

Attachment, growth and synthesis by human gingival fibroblasts on demineralized or fibronectin-treated normal and diseased tooth roots.

Regeneration of a fibrous attachment to tooth roots previously exposed to periodontal pockets requires interaction between the root surface and fibroblasts. Experiments were designed to assess whether or not fibroblasts will attach, grow and synthesize normally on tooth roots and determine the efficacy of various treatments of diseased root surfaces on these activities. Extracted teeth were collected, washed and stored frozen until used. The roots were sectioned and the surface area determined. All roots were thoroughly planed to remove most of the cementum and some were then treated with fibronectin or citric acid. Each root was placed in a Linbro well and a suspension of fibroblasts in Dulbecco Vogt medium with 10% fetal calf serum added. After cell attachment, each root was transferred to a fresh well and incubated. Some roots were examined by scanning electron microscopy. Attachment and growth were assessed by harvesting and counting cells after various incubation times. The pattern of protein synthesis was determined by preparing fluorographs from cultures pulse labeled with radioactive S35-methionine. Cells attach and grow on planed root surfaces. The number that attach to normal and diseased roots is greatly enhanced by pretreatment with fibronectin or citric acid. By day three, the cells become confluent at approximately 20,000/cm2. The pattern of proteins produced is comparable to that seen in cultures maintained in petri dishes. After root planing, cells attach, grow and synthesize equally well on diseased and normal roots.

Cell Adhesion↗
PubMed1981

[Ocular findings in Charcot-Marie-Tooth disease, HMSN type I].

The ocular findings are described in nine patients with Charcot-Marie-Tooth muscular atrophy, who were also classified as suffering from Type I hereditary motor and sensory neuropathy on the basis of genetic, clinical and electromyographic studies. Although only three patients admitted to visual symptoms and all nine patients had full vision in both eyes, combined visual evoked potential and contrast sensitivity testing revealed optic nerve involvement in one or both eyes of seven patients. Four patients showed impaired accommodation and tonic pupils, and electroretinography revealed pigmentosa-like tracings in two patients. The high percentage of subclinical optic nerve lesions has not been previously reported; however, the remaining findings are in agreement with those of previous authors.

Adolescent↗
PubMed2005

Autosomal-recessive Charcot-Marie-Tooth diseases.

In certain countries around the Mediterranean basin such as Algeria, which have a high prevalence of consanguineous marriages, autosomal-recessive (AR) inheritance may account for more than 50% of all forms of Charcot-Marie-Tooth (CMT) disease. Like with the dominant forms, it is usual to differentiate the demyelinating forms (CMT 4 corresponding to autosomal-recessive CMT 1 [AR-CMT 1] from the axonal forms [AR-CMT 2]). Genetic analysis of large families with recessive transmission has uncovered novel CMT genotypes (genes: GDAP 1, MTMR 2, MTMR 13, KIAA1985, NDGR1, periaxi, lamin). The clinical and especially the histologic phenotypes often indicate that a specific gene is implicated. We present and discuss microscopic lesions seen on nerve biopsies from patients in a number of consanguineous Algerian families, and we outline the characteristic lesions that would prompt a search for mutations in genes such as MTMR 2, MTMR 13, KIAA1985, periaxin for CMT 4, and lamin for AR-CMT 2. Like with the dominant forms, there are undoubtedly many more mutations of other genes to be discovered.

Charcot-Marie-Tooth Disease↗
PubMed2004

Resistance training effectiveness in patients with Charcot-Marie-Tooth disease: recommendations for exercise prescription.

OBJECTIVES: To determine the effects of a 12-week, home-based resistance exercise program on strength, body composition, and activities of daily living (ADLs) in men and women with Charcot-Marie-Tooth (CMT) disease and to design an ADL-based resistance exercise prescription template. DESIGN: Double-blind, placebo-controlled study. SETTING: Testing in a university setting; exercise in patients' homes. PARTICIPANTS: Twenty CMT patients who volunteered. INTERVENTION: Subjects progressively strength trained at home 3 d/wk for 12 weeks. MAIN OUTCOME MEASURES: Timed ADLs, isometric strength, and body composition. RESULTS: Absolute strength was greater in men with CMT in only 4 of 10 baseline measures (P<.05), but not when strength was normalized by lean mass. Training compliance was 87% with no gender differences. At baseline, women had 80% of normal strength in 4 of 10 measures, whereas men did not achieve 80% of normal strength in any measure. After training, women had 80% of normal strength in 8 of 10 measures, whereas men only had 80% of normal strength in 1. Training volumes and strength change scores showed no gender differences. ADLs improved after training with no gender differences (P<.05). An exercise prescription template was developed by using chair-rise time to estimate starting weights for lower body and supine rise for upper body. CONCLUSIONS: Resistance training improved strength and ADLs equally in men and women. We designed an exercise prescription recommendation, based on ADL performance.

Activities of Daily Living↗