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PubMed1985

Focal glomerulosclerosis associated with Charcot-Marie-Tooth disease.

This report describes a new case of the rare association of focal glomerulosclerosis with a peroneal muscular atrophy of the Charcot-Marie-Tooth type. The young patient was admitted with a nephrotic syndrome. A terminal renal failure rapidly developed. Numerous chronic nephropathies were known in the patient's family. The ultrastructural study of the renal biopsy revealed a focal fusion of the epithelial foot processes, thickened and pleated mesangial basal laminae, vacuolated podocytes and small intranuclear clear inclusions. The Charcot-Marie-Tooth disease was of the hypertrophic type. According to a review of the literature and to further information concerning the follow-up of the 5 previously reported cases, the prognosis of the nephropathy is guarded with progression to end-stage renal disease in a few years. This case represents the 6th reported case of focal glomerulosclerosis associated with Charcot-Marie-Tooth disease.

Adolescent↗
PubMed1988

Diaphragm weakness in Charcot-Marie-Tooth disease.

Two patients are described with Charcot-Marie-Tooth disease and chronic peripheral neuropathy. Both had dyspnoea, orthopnoea, and evidence of severe diaphragm weakness. Expiratory muscle function was well preserved and abnormalities of gas exchange during sleep were only minor.

Charcot-Marie-Tooth Disease↗
PubMed1993

Foot and ankle fusions in Charcot-Marie-Tooth disease.

We reviewed 15 patients with Charcot-Marie-Tooth disease who were treated with foot or ankle fusions. Altogether, 26 feet were treated with fusions and the average follow-up time was 14 years. In half of the patients the principal symptom leading to fusion operation was instability of the ankle. In four patients, in two of them bilaterally, soft tissue corrections were performed before the fusion. In 21 cases, a subtalar triple arthrodesis was performed and each time correction to neutral position was the aim. In six feet, the triple arthrodesis was complemented by soft tissue plasties, e.g., plantar release, Achilles elongation, or transposition of tibial or peroneal tendons in order to achieve proper balance. Other primary fusions were a Grice-type fusion in one case, pantalar arthrodesis in one case, talocrural fusion in one case, and interphalangeal fusions in both feet in one patient with extreme claw foot. In four cases the triple arthrodesis failed to fuse (three nonunions and one delayed union), and new fusions were successful in three of them. The one pantalar fusion in the series was done for a 58-year-old man with late onset of the disease who had a very severe cavovarus deformity at the time of the operation, and this fusion failed to unite. In 17 of 26 feet, other operations than the primary fusion were performed, and five feet were operated on three or four times. In four feet the result was judged as excellent, in 15 good, in four fair, and in three poor.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1999

X-linked Charcot-Marie-Tooth disease and connexin32.

X-linked Charcot-Marie-Tooth disease is caused by mutations in the gene for the gap junction protein connexin32. This protein is expressed in peripheral nerve and present in noncompacted myelin, where it likely forms channels around and across the myelin sheath. Studies in cell culture and in transgenic mice show that connexin32 mutations can cause a loss of channel function or a gain of toxic effects on myelinating Schwann cells or both, with resulting peripheral nerve degeneration.

Animals↗
PubMed1999

Charcot-Marie-Tooth disease type I diagnosed in a 5-year-old boy after vincristine neurotoxicity, resulting in maternal diagnosis.

Charcot-Marie-Tooth disease type 1, also known as hereditary motor sensory neuropathy type 1, is an uncommon autosomal dominant disease that causes destruction of peripheral nerves with a varied clinical course, but often leads to muscle weakness. If the peroneal muscle is involved, the patient may develop a characteristic slapping gait. The dose-limiting side effect of the chemotherapeutic agent vincristine is usually its neurotoxicity. We report the case of a 5-year-old patient with leukemia who developed an acute polyneuropathy after treatment with vincristine. Charcot-Marie-Tooth disease type 1 was diagnosed in the patient and, subsequently, in his mother only after vincristine toxicity was observed.

Adult↗
PubMed2006

Cochlear implantation in a patient with deafness induced by Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathies).

Charcot-Marie-Tooth disease (CMT), also named hereditary motor and sensory neuropathies (HMSN), comprises a clinically and genetically heterogeneous group of disorders affecting the peripheral nervous system. Deafness induced by CMT is clinically distinct among the genetically heterogeneous group of CMT disorders. Deafness in CMT patients is associated with point mutations or deletions in the transmembrane domain in the peripheral myelin gene (PMP) 22, which are in close proximity to the extracellular component of this gene. We present a patient with deafness induced by CMT type 1A, undergoing cochlear implantation. Prior investigations showed good results due to replacing a synchronous impulse by means of cochlear implantation in patients with auditory neuropathy.

Charcot-Marie-Tooth Disease↗
PubMedDate not supplied

Patterns of muscle atrophy in the lower limbs in patients with Charcot-Marie-Tooth disease as measured by magnetic resonance imaging.

Intrinsic atrophy of the calf musculature is a common finding in Charcot-Marie-Tooth disease. Peroneal nerve atrophy leading to weakness in the anterior and lateral compartments is the most common clinical pattern, but considerable variability exists in the pattern of atrophy. Magnetic resonance imaging offers a valuable method for identifying the distribution and symmetry of muscle degeneration. Twenty-three patients with Charcot-Marie-Tooth disease had axial T-1 magnetic resonance images obtained at proximal, middle and distal calf muscle locations. Areas of fatty infiltration and muscle atrophy were measured in the four calf muscle compartments. The worst areas of involvement, on a scale of one to four, with four being worst, were in the lateral compartment in the mid calf (mean, 2.5) and in the anterior, posterior and lateral compartments of the distal calf (2.6, 2.8 and 2.5). Comparing right and left legs showed that there was visible asymmetry, which was not statistically significant. There was considerable variation in the pattern of involvement from patient to patient. The fact that all four calf muscle compartments may be involved asymmetrically and in varying degrees is important for treatment planning, including surgery. Not all patients have the classic symmetrical peroneal pattern of denervation.

Adolescent↗
PubMed1986

Dietary essential fatty acids, vitamin E, and Charcot-Marie-Tooth disease.

Twenty patients with type I Charcot-Marie-Tooth disease received dietary supplementation with the essential fatty acids (EFA), linoleic and gamma-linolenic acids, and vitamin E. A 3-month blinded trial of placebo (paraffin oil and vitamin E, 81.6 IU/d) was followed by 1 year of 3 grams daily of EFA and vitamin E. Serum fatty acid values doubled, but total esterified fatty acid proportions did not change. Arachidonic acid proportions correlated with the amount of prostaglandin-mediated lymphocyte suppression measured at the same times. Improvement demonstrated at the end of the placebo period by neuropsychological tests and neurologic examination was maintained during the 1 year of EFA supplementation. This effect may reflect a membrane stabilization benefit of vitamin E.

Adolescent↗
PubMed2003

Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.

Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous disorder of the peripheral nervous system. CMT type 1 is most frequently caused by a 1.4 Mb tandem duplication in chromosome 17p11.2 comprising the peripheral myelin protein 22 (PMP22) gene. Furthermore sequence variations of PMP22, myelin protein zero (MPZ) and the gap junction protein b 1 gene (GJB1 or Connexin 32) may cause a variety of distinct CMT phenotypes. In this study we screened DNA from 42 unrelated patients for mutations in the PMP22, MPZ and GJB1 genes. Four novel mutations were identified. A Val65Phe amino acid exchange in PMP22 causes CMT type 1 associated with deafness, in GJB1 Tyr7_Thr8delinsSer, Pro172Ala and Ser138Asn are causes of CMTX neuropathies".

Charcot-Marie-Tooth Disease↗
PubMedDate not supplied

[Type 2 Charcot-Marie-Tooth disease?].

INTRODUCTION AND DEVELOPMENT: Type 2 Charcot-Marie-Tooth disease (CMTD-2) is of similar prevalence to CMTD-1. The age of onset is very variable (ranging between the second and seventh decades). It is impossible to clinically differentiate CMTD-1 from type 2, but for equivalent degrees of muscle weakness, amyotrophia is more marked in the latter. The speed of motor and sensory nerve conduction are normal or minimally slower (> or = 38 m/s) and accompanied by a fall in the nerve potentials of the lower limbs, but not always in the upper limbs. These electrophysiological anomalies do not occur early and therefore do not permit rapid, presymptomatic diagnosis of carriers at risk. The histopathological changes are compatible with primary atrophy of the motor neurons of the anterior horns and of the sensory neurons of the ganglia of the posterior roots, with secondary degeneration of the distal axons of the peripheral nerves. Autosomal dominant transmission is the main mode of inheritance, but only a minority of families have genetic loci situated on chromosomes 1, 3 and 7. CONCLUSION: The first step in rapid molecular diagnosis and genetic treatment is to identify the genes situated in the currently known loci and discover new loci.

Atrophy↗
PubMed2004

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.

Charcot-Marie-Tooth disease (CMT) is the most common inherited neuromuscular disease and is characterized by considerable clinical and genetic heterogeneity. We previously reported a Russian family with autosomal dominant axonal CMT and assigned the locus underlying the disease (CMT2F; OMIM 606595) to chromosome 7q11-q21 (ref. 2). Here we report a missense mutation in the gene encoding 27-kDa small heat-shock protein B1 (HSPB1, also called HSP27) that segregates in the family with CMT2F. Screening for mutations in HSPB1 in 301 individuals with CMT and 115 individuals with distal hereditary motor neuropathies (distal HMNs) confirmed the previously observed mutation and identified four additional missense mutations. We observed the additional HSPB1 mutations in four families with distal HMN and in one individual with CMT neuropathy. Four mutations are located in the Hsp20-alpha-crystallin domain, and one mutation is in the C-terminal part of the HSP27 protein. Neuronal cells transfected with mutated HSPB1 were less viable than cells expressing the wild-type protein. Cotransfection of neurofilament light chain (NEFL) and mutant HSPB1 resulted in altered neurofilament assembly in cells devoid of cytoplasmic intermediate filaments.

Amino Acid Sequence↗
PubMed2001

New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type 1A duplication diagnosis.

BACKGROUND: Charcot-Marie-Tooth disease type 1A (CMT1A) accounts for 70-90% of cases of CMT1 and is most frequently caused by the tandem duplication of a 1.4-Mb genomic fragment on chromosome 17p12. Molecular diagnosis of CMT1A has been based primarily on pulsed-field electrophoresis, fluorescence in situ hybridization, polymorphic allele dosage analysis, and quantitative PCR. We sought to improve the fidelity and applicability of PCR-based diagnosis by developing a panel of novel, highly polymorphic short tandem repeats (STRs) from within the CMT1A duplicated region. METHODS: We used a recently available genomic sequence to identify potentially polymorphic simple repeats. We then amplified these sequences in a multiethnic cohort of unaffected individuals and assessed the heterozygosity and number of alleles for each STR. Highly informative markers were then tested in a set of previously diagnosed CMT1A duplication patients, and the ability to identify the genomic duplication through the presence of three bands was assessed. RESULTS: We identified 34 polymorphic markers, 15 of which were suitable for CMT1A diagnosis on the basis of high heterozygosity in different ethnic groups, peak uniformity, and a large number of alleles. On the basis of the fluorescent dye and allele range of each marker, we developed two panels, each of which could be analyzed concurrently. Panel 1, which comprised 10 markers, detected 37 of 39 duplications, whereas panel 2, which comprised the remaining 5 markers, identified 21 of 39 duplications. Through the combination of both panels, we identified 39 of 39 duplications in previously diagnosed CMT1A patients. CONCLUSIONS: The newly developed 15-marker set has the capability of detecting > 99% of duplications and thus is a powerful and versatile diagnostic tool.

Asian People↗
PubMed1994

[Epidural anesthesia for a patient with Charcot-Marie-Tooth disease, mitral valve prolapse syndrome and IInd degree AV block].

A 24-year-old, 48 kg female with Charcot-Marie-Tooth disease, mitral valve prolapse syndrome and IInd degree AV block was scheduled for emergency cesarean section under epidural anesthesia. This anesthesia was chosen because she had heart disease. Furthermore, the combination of general anesthesia with neuromuscular blockade posed the risk of a prolonged response to muscle relaxants and resulting respiratory insufficiency. Surgery lasted 50 min and proceeded uneventfully. A normal female infant was delivered with Apgar scores of 9 at 1 min and 10 at 5 min. Epidural anesthesia was safely performed during the operation. Postoperatively, there were no signs of respiratory or neurologic dysfunction. In conclusion, epidural anesthesia seems to be a good choice for a patient with Charcot-Marie-Tooth disease.

Adult↗
PubMed1980

Charcot-Marie-Tooth disease associated with hypertrophic neuropathy: a neuropathologic study of two cases.

The neuropathologic features of two cases of Charcot-Marie-Tooth disease associated with hypertrophic neuropathy are described. The peripheral nerves had a loss of myelinated fibers, endoneurial fibrosis, and numerous onion-bulb formations. The most severe changes were seen in the distal nerves. In the older of the two patients, advanced changes were also observed in the proximal nerves and anterior roots and were associated with neuronal degeneration in the anterior horns and dorsal root ganglia. The muscles were the site of chronic denervation atrophy, which was most severe in the distal portions of the lower extremities. In one of the cases, the autopsy findings were complemented by sural nerve biopsy studies, which confirmed the presence of segmental demyelination and remyelination, axonal degeneration, and Schwann cell proliferation in the form of onion bulbs. Our observations support the concept of a primary neuronal abnormality in the hypertrophic type of Charcot-Marie-Tooth disease (HN-CMT). The disorder appears to initially involve the distal axonal processes but, with progression of the disease, also involves the proximal axons, eventually leading to degeneration and loss of neurons in the anterior horns and dorsal root ganglia. Onion-bulb formation generally parallels nerve fiber degeneration, suggesting that segmental demyelination and onion bulbs may occur secondary to axonal degeneration. The possibility of a concomitant Schwann cell abnormality cannot be excluded, however, on the basis of our postmortem studies.

Adult↗
PubMed2001

Disease mechanisms and potential therapeutic strategies in Charcot-Marie-Tooth disease.

Until 10 years ago, the genetic basis of Charcot-Marie-Tooth (CMT) disease was largely unknown. With the finding of an intrachromosomal duplication on chromosome 17 in 1991, associated with the most commonly found subtype CMT1A, and the discovery of a point mutation in the peripheral myelin protein-22 (pmp22) gene in the Trembler mouse in 1992, the groundwork was laid down for a novel chapter in the elucidation of the molecular basis of this large group of peripheral neuropathies. In the meantime, several different genes have been found to be associated with different forms of demyelinating and axonal forms of CMT. In this review, we will summarize what is known today about the genetics of this group of disease which constitute the most common known monogenetic disorder affecting the nervous system in man, the animal models that have been generated, and what we have learned about the underlying disease mechanisms. Furthermore, we will review how this gain of knowledge about CMT may open new avenues to the development of novel treatment strategies.

Animals↗
PubMed1988

Neuropathic ankle joint in Charcot-Marie-Tooth disease after triple arthrodesis of the foot.

Charcot-Marie-Tooth disease results in pes cavus or equinocavovarus deformity. An accepted surgical correction is triple arthrodesis of the foot. In a retrospective study of 45 Charcot-Marie-Tooth patients, two cases developed neuropathic ankle joint after triple arthrodesis. This procedure prevents mobility of the tarsal joint and consequently increases stress on the ankle joint. If coupled with decreased joint sensation, it may predispose the ankle to neuroarthropathy. This paper emphasizes joint position sense as an important consideration before triple arthrodesis or any other surgical procedure.

Adolescent↗
PubMed1992

Clinical and genetic heterogeneity of Charcot-Marie-Tooth disease.

The autosomal dominant forms of hereditary motor and sensory neuropathies include the hypertrophic form (CMT1) and the neuronal form of Charcot-Marie-Tooth disease (CMT2). While at least two distinct loci have been shown to be linked to the CMT1 phenotype (CMT1A and CMT1B, on chromosomes 17 and 1, respectively), whether the CMT2 phenotype results from mutations allelic to either of the CMT1 genes remains unknown. Studying one CMT1 and two CMT2 pedigrees, we were able to exclude the CMT2 disease locus from the region of chromosome 17 (Z = -2.80 at theta = 0.05 for D17S58) where the CMT1A gene maps (Z = +3.67 at theta = 0.00). Similarly, negative lod score values were obtained in CMT2 for the region of chromosome 1 where the CMT1B gene has been located (Z = -3.09 at theta = 0.05 for D1S61). The present study therefore provides evidence for genetic heterogeneity between the hypertrophic and the neuronal forms of Charcot-Marie-Tooth disease and demonstrates that the CMT2 gene is not allelic to either of the CMT1 genes mapped to date.

Charcot-Marie-Tooth Disease↗
PubMed2004

A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24.

Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders with a prevalence estimated at 1/2500. The axonal form of this disorder is referred to as Charcot-Marie-Tooth type 2 disease (CMT2). Recently, a large Chinese family with CMT2 was found in the Hunan and Hubei provinces of China. The known loci for CMT1A, CMT2D, CMT1B (the same locus is also responsible for CMT2I and CMT2J), CMT2A, CMT2E, and CMT2F were excluded in this family by linkage analysis. A genome-wide screening was then carried out, and the results revealed linkage of CMT2 to a locus at chromosome 12q24. Haplotype construction and analyses localized this novel locus to a 6.8-cM interval between microsatellite markers D12S366 and D12S1611. The maximal two-point LOD score of 6.35 and multipoint LOD score of 8.08 for marker D12S76 at a recombination fraction (theta) of 0 strongly supported linkage to this locus. Thus, CMT2 neuropathy in this family represents a novel genetic entity that we have designated as CMT2L.

Adolescent↗