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At least 955 records · Page 53Linked to original sources
PubMed2003

Clinical and genetic analysis of CMT1B in a Nigerian family.

We report a Nigerian family with a late-onset autosomal dominant neuropathy consistent with Charcot-Marie-Tooth disease. Electrophysiological examination of the index patient confirmed a severe demyelinating neuropathy with secondary axonal features. Sequence analysis of the myelin protein zero (MPZ) gene identified a C-to-G transversion at nucleotide position 234, resulting in a serine-to-tryptophan mutation in codon 78 (S78W) of the translated protein. The presence of this novel missense mutation suggests a diagnosis of Charcot-Marie-Tooth disease type 1B. Our study confirms the worldwide distribution of this disorder and extends the genetic spectrum of mutations in the MPZ gene.

Aged↗
PubMed2005

The administration of chemotherapy in a patient with Charcot-Marie-Tooth and ovarian cancer.

BACKGROUND: Standard adjuvant chemotherapy for epithelial ovarian carcinoma most commonly consists of a combination of carboplatin with a taxane derivative. However, treatment-related side effects such as peripheral neuropathy and neutropenia can be debilitating and in certain patient populations alterations may need to be considered. CASE: We describe a case of a patient with epithelial ovarian carcinoma who had pre-existing peripheral neuropathy secondary to Charcot-Marie-Tooth Disease (CMT). She developed a distal sensory and motor neuropathy after her first treatment with carboplatin and paclitaxel and was unable to walk, write, or drive. Upon transfer of care to our center, we changed her taxane to docetaxel and her symptoms improved dramatically. We discuss the outcome of her treatment and the effects of paclitaxel on her underlying peripheral neuropathy. CONCLUSION: Patients with Charcot-Marie-Tooth Disease who require chemotherapy may not be able to tolerate the neurotoxic side effects of paclitaxel-based chemotherapy. Consideration of alternative, less neurotoxic treatment regimens containing docetaxel may be considered.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed1986

Otoneurological findings in Friedreich's ataxia and other inherited neuropathies.

Fifteen cases of Friedreich's ataxia (FA) were examined using an otoneurological test battery that included tone and speech audiometry, the synthetic sentence identification (SSI) test, impedance audiometry, cortical auditory-evoked response (CAER), brainstem auditory-evoked response (ABR) and electronystagmography. We also obtained ABR and CAER findings in 2 cases of familial spastic paraplegia, in 5 cases of Charcot-Marie-Tooth disease and 6 in cases of atypical FA of uncertain classification. The results of puretone and impedance audiometry were normal in all cases. ABR could not be elicited in 11 FA patients and were abnormal at higher intensity levels in the remaining 4 patients. In these 4 cases, however, the latencies were normal. ABR did not show any marked abnormalities in patients with familial spastic paraplegia or Charcot-Marie-Tooth disease. CAERs were normal in all 28 patients. ABRs tended to be absent with the progression of FA. ABR thresholds were correlated with the Inherited Ataxias Clinical Rating Scale score, which is an index of the severity of the illness. ABRs contributed to the diagnosis or to excluding FA in patients with an atypical clinical picture. The absence of ABRs and the normal latencies of the waves, when evoked, agree with the pathological finding of a reduction of fibers in the spinal root ganglion. SSI abnormalities and vestibular findings agree with this hypothesis.

Adolescent↗
PubMedDate not supplied

Sensory (1a) and F-wave conduction velocity in the proximal segment of the tibial nerve.

The F-wave was used to estimate the fastest motor nerve conduction velocity (MNCV) along the proximal segment (spinal cord to knee) of the axons of the tibial nerve in 65 control subjects, 8 patients with diabetic polyneuropathy, and 4 patients with Charcot-Marie-Tooth disease. Terminal latencies and MNCV along the distal segment (knee to ankle) of the nerve were also estimated with the conventional M-response technique. This article describes another method for estimating sensory nerve conduction velocity (SNCV) along 1a fibers of the tibial nerve for the spinal cord-to-knee segment. Proximal and distal MNCV showed moderate slowing in patients with diabetic polyneuropathy and severe slowing in those with Charcot-Marie-Tooth disease. In 17 control subjects, proximal MNCV for the axons supplying the abductor hallucis muscle was compared to that estimated for the axons to the gastrocnemius muscle. MNCV for the proximal is faster than that for the distal small muscle. In 2 patients, M- and F-responses were not obtained from the abductor hallucis; in these patients, effective estimation of the proximal MNCV was made from the gastrocnemius muscle and showed marked reduction.

Adolescent↗
PubMed1984

Dental disease in hill sheep: an abattoir survey.

Heads from 478 aged sheep of a predominantly hill breed population were examined in detail for evidence of dental disease, using both soft and hard tissue measurements around incisor and cheek teeth. Almost 60 per cent of this population (all over 2 1/2 years of age and with a mean age between 7 and 8 years) had either loose or missing teeth. Malalignment of cheek teeth and/or incisors was also common. Pocketing was seen in 87 per cent of the population, and was significantly correlated with tooth looseness. There was also a significant relationship between incisor and specific cheek tooth pocket depths. Whilst local alveolar bone loss was found, it was not a reflection of more general skeletal deterioration. The survey confirms the high incidence of broken mouth in the national flock and shows that wherever incisor problems occur there is a likelihood that cheek tooth disease is also present, a relationship not readily appreciated clinically.

Animals↗
PubMed1996

Functional abnormalities in P0-deficient mice resemble human hereditary neuropathies linked to P0 gene mutations.

Mutations in the gene encoding the transmembranous cell adhesion molecule, myelin protein zero (P0), have been reported in patients with Charcot-Marie-Tooth disease types 1B and 3 (Déjérine-Sottas disease). We have previously shown that the targeted deletion of the P0 gene in mice results in impairment of sciatic nerve conduction, and we now extend our detailed electrophysiologic investigation to the facial nerve. In concordance with histologic investigations which revealed severe hypomyelination in peripheral nerves we found the typical electrophysiologic signs of severe dysmyelination in both the facial and sciatic nerves in mice homozygously deficient for the expression of P0 (P0 -/- mice). As compared to control mice (P0+/+), nerve conduction velocities were reduced to below 10% and compound muscle action potential (CMAP) amplitudes to below 25%, while CMAP duration and excitation thresholds were markedly increased. Surprisingly, nerve conduction changes in mice heterozygously deficient for P0 (P0+/-) were only mild, were detected only in the sciatic nerve, and occurred not before 5-7 months of age. They were more prominent at age 12-13 months. Thus, P0 -/- mice resemble severe human inherited neuropathies like Charcot-Marie-Tooth disease type 3 (Déjérine-Sottas disease) with onset early in life, whereas the P0 +/- mice may resemble the milder form, CMT1B.

Animals↗
PubMed1997

Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease.

Charcot-Marie-Tooth type 1A disease is an inherited sensorimotor neuropathy that is most often associated with a duplication of chromosome 17p11.2. This region contains the gene of the peripheral myelin protein 22 (PMP22), which is responsible by a gene dosage effect for the Charcot-Marie-Tooth type 1A phenotype with 17p11.2 duplication. We performed a clinical, electrophysiological, and genetic study of a consanguinous Charcot-Marie-Tooth type 1A family with 4 affected siblings, 3 of whom were homozygous for the 17p11.2 duplication, the other a heterozygote. Comparison of phenotypes showed that the severity of the disease was variable among the homozygotes, one of whom was no more severely affected than the heterozygous sibling who was paucisymptomatic. These results suggest that the severity of the disease is not determined solely by the number of copies of the PMP22 gene.

Adult↗
PubMed2004

Impairment of PMP22 transgenic Schwann cells differentiation in culture: implications for Charcot-Marie-Tooth type 1A disease.

Charcot-Marie-Tooth type 1A (CMT1A) is a hereditary demyelinating neuropathy due to an increased genetic dosage of the peripheral myelin protein 22 (PMP22). The mechanisms leading from PMP22 overexpression to impairment of myelination are still unclear. We evaluated expression and processing of PMP22, viability, proliferation, migration, motility and shaping properties, and ability of forming myelin of PMP22 transgenic (PMP22(tg)) Schwann cells in culture. In basal conditions, PMP22(tg) Schwann cells, although expressing higher PMP22 levels than control ones, show normal motility, migration and shaping properties. Addition of forskolin to the media induces an additional stimulation of PMP22 expression and results in an impairment of cells migration and motility, and a reduction of cell area and perimeter. Similarly, co-culturing transgenic Schwann cells with neurons causes an altered cells differentiation and an impairment of myelin formation. In conclusion, exposure of PMP22(tg) Schwann to the axon or to axonal-mimicking stimuli significantly affects the transition of transgenic Schwann cells to the myelinating phenotype.

Animals↗
PubMed2003

Close relationship between motor impairments and loss of functional motoneurons in a Charcot-Marie-Tooth type 1A model.

Charcot-Marie-Tooth disease type 1A is the most frequent hereditary neuropathy affecting the peripheral nervous system. A partial duplication of chromosome 17 (17p11.2) involving the PMP22 gene is responsible for dysmyelination-demyelination processes leading to motor and sensory impairments. Murine models of this disease are now widely used to investigate the mechanisms occurring at the behavioural and physiological levels. In this study, adult transgenic mice (6 months old) having integrated 7 copies of the human PMP22 gene were used to compare the motor performance, evaluated by using a complex locomotor test (the rotarod test), with both the number of functional motoneurons innervating the soleus muscle and the level of myelination in the sciatic nerve. Two levels of motor deficits were detected and led us to divide the population into two subgroups. In both impaired groups, the level of motor deficit was strongly correlated with the number of functional motoneurons evaluated by retrograde labeling from the muscle, but not with the number of myelinated fibers or the thickness of the myelin sheath (g-ratio). It therefore appears that the number of motor units may be a key element in motor impairments observed in Charcot-Marie-Tooth disease type 1A disease. These findings may have implications for therapeutic procedures, which should focus on the survival of the motoneuronal pool and/or the maintenance of functional neuro-muscular connexions to reduce motor impairments in humans.

Animals↗
PubMed2005

Reliability and validity of the CMT neuropathy score as a measure of disability.

OBJECTIVE: To determine the validity and reliability of the Charcot-Marie-Tooth disease (CMT) neuropathy score (CMTNS) in patients with inherited neuropathy. BACKGROUND: Natural history studies and potential treatment trials for patients with various forms of CMT are limited by the lack of quantitative methodologies to monitor disease progression. Most cases of CMT can be considered length-dependent axonal neuropathies because disability for even the demyelinating forms correlates with length-dependent axonal degeneration. The total neuropathy score (TNS) is a validated composite measure of disability in length-dependent axonal neuropathies but is weighted toward predominantly sensory neuropathies. Thus, the authors have devised a CMTNS, modified from the TNS, to provide a single measure to quantify CMT disability. METHODS: The authors measured inter- and intrainvestigator reliability of the CMTNS and performed a validation of the score with the Neuropathy Impairment Score (NIS), patient self-assessment scores, an ambulation index, and other measures of disability. RESULTS: Inter- and intrainvestigator reliability was more than 95% in the 60 patients evaluated. Patients could be divided into mild (CMTNS, < or =10), moderate (CMTNS, 11 to 20), and severe (CMTNS, > or =21) categories and demonstrated excellent correlations among all measures of disability. CONCLUSION: The Charcot-Marie-Tooth disease (CMT) neuropathy score is a validated measure of length-dependent axonal and demyelinating CMT disability and can be investigated as an end point for longitudinal studies and clinical trials of CMT.

Action Potentials↗
PubMed1999

Ultrastructural protein zero expression in Charcot-Marie-Tooth type 1B disease.

Charcot-Marie-Tooth type 1B (CMT 1B) disease, an inherited demyelinating peripheral neuropathy, results from different point mutations located in the P0 gene on chromosome 1 q21-23. We have quantified, at the ultrastructural level, the immunocytochemical expression of the P0 protein in two unrelated CMT 1B patients with mutations (Ser 78 to Leu and Asn 122 to Ser) located in two different exons in the extracellular domain of the protein. A twofold decrease in P0 expression was observed in compact myelin in each case, compared with age-matched controls. The severity of the phenotypes showed no direct relationship to the levels of P0 protein expression in these 2 patients.

Amino Acid Substitution↗
PubMed1993

The major peripheral myelin protein zero gene: structure and localization in the cluster of Fc gamma receptor genes on human chromosome 1q21.3-q23.

We have characterized the human gene encoding the major peripheral myelin protein zero (P0) and assigned it, by in situ hybridization, to the q21.3-q23 region of human chromosome 1. This region is known to contain a cluster of interspersed genes coding for the related human leukocyte receptors of the Fc portion of the immunoglobulin G (Fc gamma RI, II, III). This colocalization was refined by the finding of a yeast artificial chromosome (YAC) of the Centre d'Etude du Polymorphisme Humain (CEPH) library, hybridizing to the P0 and Fc gamma RIIA genes, demonstrating their physical linkage. These data may have important implications in demyelinating diseases studies like Charcot-Marie-Tooth disease type 1B (CMT1B).

Amino Acid Sequence↗
PubMed1999

The periacetabular osteotomy. Minimum 2 year followup in more than 100 hips.

The results of 123 periacetabular osteotomies in 115 patients were reviewed at an average clinical followup of 4.3 years. The average age of the patients at the time of the operation was 32.9 years. The preoperative diagnosis was congenital dysplasia in 101 hips, Legg-Calve-Perthes disease in 10 hips, Charcot Marie Tooth disease in four hips, epiphyseal dysplasia in three hips, congenital coxa vara in two hips, slipped capital femoral epiphysis in one hip, and posttraumatic and postinfectious dysplasia in one hip each. The ilioinguinal approach was used in 67 hips and the modified Smith-Petersen approach was used in 56 hips. A periacetabular osteotomy was combined with an intertrochanteric osteotomy and/or trochanteric transfer in 32 hips. Ten hips underwent open reduction and internal fixation of an acetabular rim fracture and 18 arthrotomies were performed at the time of periacetabular osteotomy. The average Harris hip score increased from 65 points preoperatively to 89 points at latest followup. The average Merle d'Aubigne score increased from 13.6 points preoperatively to 16.3 points at latest followup. Overall, 83% of the hips were rated clinically as good to excellent. Seven hips have undergone total hip arthroplasty and six subsequent intertrochanteric osteotomies were performed. The majority of the major complications occurred when the osteotomy was performed through the ilioinguinal approach. The latest followup radiographic severity of osteoarthrosis, according to the criteria of Tönnis, improved or was unchanged in 117 hips (95%), and progressed in only six hips (5%). The majority of the hips with preoperative changes in the periarticular bone showed some evidence of regeneration, which was shown by a decrease in the subchondral sclerosis, disappearance of cysts, or healing of an acetabular rim fracture. The short term results of the periacetabular osteotomy are encouraging from the standpoint of improvements in clinical scores and in the appearance of the joint.

Acetabulum↗
PubMed2005

Efficacy of periodontal disease and tooth loss to screen for low bone mineral density in Japanese women.

The relationship between oral indicators and bone mineral density (BMD) has been studied by many investigators, with mixed and complex results. The purpose of the present cross-sectional study was to evaluate the associations of periodontal conditions and tooth loss with metacarpal BMD (m-BMD) in a community-based cohort and the usefulness of tooth count as a potential screening tool to detect low BMD. Subjects were 356 Japanese women (171 premenopausal, mean age 37.9+/-8.0 years; 185 postmenopausal, mean age 63.3+/-7.7 years). Periodontal status was evaluated by the Community Periodontal Index of Treatment Needs (CPITN). m-BMD was measured by computerized X-ray densitometry. The proportion of subjects with periodontitis (CPITN 3 or 4) increased as m-BMD decreased. The odds ratio (OR) of osteopenia or osteoporosis in relation to periodontitis was 3.2 (95% confidence interval [CI], 2.0--5.3). After adjustment for age and menopausal status, the OR was 2.0 (95% CI, 1.1--3.7). Among postmenopausal women, those having fewer than 20 teeth were 1.6 times more likely to have low m-BMD than those having more than 20 teeth (chi-square for trend in postmenopausal group, 4.27; P<0.05). Receiver-operating curve (ROC) analysis indicated that number of teeth remaining or CPITN score had a greater than 50/50 chance to correctly identify women with osteoporosis or osteopenia, but the areas under the curve (0.72 and 0.67, respectively) are considered less than highly accurate screening tools. These results indicate that periodontitis and tooth loss after menopause may be useful indicators of m-BMD loss in Japanese women.

Absorptiometry, Photon↗
PubMed2007

New mutation of the MPZ gene in a family with the Dejerine-Sottas disease phenotype.

Charcot-Marie-Tooth disease type 1B is associated with mutations in the myelin protein zero gene. In the present study a new myelin protein zero gene mutation (c.89T>C,Ile30Thr) was detected in a family with the Dejerine-Sottas disease phenotype. The results support the hypothesis that severe, early-onset neuropathy may be related to either an alteration of a conserved amino acid or a disruption of the tertiary structure of myelin protein zero.

Adult↗
PubMed1980

Study of a family with progressive ataxia, tremor and severe distal amyotrophy.

We have studied a large family of which seven members suffer from a progressive disease with onset in the first decade. The first symptoms were gait ataxia and clumsiness in all cases, followed by progressive development of severe distal amyotrophy reminiscent of Charcot-Marie-Tooth disease. In four patients a postural tremor which was relieved by pharmacological agents was also evident in the limbs or head. Cerebellar atrophy was confirmed on CT scan. Motor nerve conduction velocities were in the low normal range, while sensory nerve conduction was markedly decreased. All patients had impaired proprioception and vibration sense. The laboratory investigation revealed a normal CSF protein level and elevated serum bilirubin. The patients reported in this study apparently suffer from an original recessive form of spinal and olivocerebellar degeneration associated with a neuronal form of Charcot-Marie-Tooth disease.

Adolescent↗