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PubMed2004

Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene.

Axonal forms of Charot-Marie-Tooth disease, either dominantly or recessively inherited, are clinically and genetically heterogeneous. We describe the clinical and electrophysiological characteristics of an axonal autosomal recessive form of Charot-Marie-Tooth disease in a French family, associated with a new mutation of the ganglioside-induced differentiation-associated protein-1 gene (GDAP1). Two sisters, born to non-consanguineous parents, presented severe proximal and distal sensorimotor deficit, areflexia, pes cavus, scoliosis and vocal cord and diaphragm paralysis. They lost ambulation in the third decade and since then they have been wheelchair bound. Nerve conduction studies were consistent with an axonal neuropathy. Clinical and electrophysiological examination of their parents and their brother was normal. Genetic analysis revealed a homozygous thymidine deletion at nucleotide position 558 resulting in a frameshift at codon 186 and a stop codon at position 205. This axonal form of Charot-Marie-Tooth disease associated with a new GDAP1 mutation is recessively inherited and is characterized by a severe phenotype, since patients become wheelchair bound in the third decade, and present vocal cord and diaphram paralysis, which may be missed as they had no respiratory symptoms until the third decade.

Adult↗

PubMed1994

Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A.

The human peripheral myelin protein 22 (PMP-22) gene has been mapped to chromosome 17p11.2 in the duplicated region associated with Charcot-Marie-Tooth disease type 1A. Southern blot analysis using PMP-22 as a probe indicated that the PMP-22 gene was duplicated in 5 patients from unrelated Japanese families with Charcot-Marie-Tooth disease type 1. In order to investigate whether or not an extra copy of PMP-22 has an effect on its gene expression, we analyzed relative expression of messenger RNA for PMP-22 and protein 0 (P0) against beta-actin by Northern blotting in biopsied nerves of the patients with type 1A disease, and compared the results with those of patients having other demyelinating neuropathies and the autopsied nerves of patients without neuropathies. The relative expression of PMP-22 messenger RNA in 5 patients with Charcot-Marie-Tooth disease type 1A was significantly higher than that in 5 patients with other demyelinating neuropathies (p < 0.05). There was no statistically significant difference in P0 expression between them. This study provided direct evidence for elevated expression of PMP-22 in peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A as the result of a gene dosage effect. However, the relation between elevated expression of PMP-22 and the mechanism causing demyelination remains undetermined.

Adult↗

PubMed2001

A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.

Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of inherited peripheral motor and sensory neuropathies characterized by chronic distal weakness with progressive muscular atrophy and sensory loss in the distal extremities. Inheritance can be autosomal dominant, X-linked or autosomal recessive (ARCMT). Recently, a locus responsible for a demyelinating form of ARCMT disease, named CMT4F, has been mapped on 19q13 in a large consanguineous Lebanese family. L- and S-periaxin are proteins of myelinating Schwann cells and homozygous periaxin-null mice display extensive demyelination of myelinated fibers in the peripheral nervous system, which suggests that the periaxin gene is a good candidate gene for an ARCMT disease. The human gene encoding the periaxins (PRX) was mapped to 19q13, in the CMT4F candidate interval. After characterizing the human PRX gene, we identified a nonsense R196X mutation in the Lebanese family which cosegregated with CMT. Histopathological and immunohistochemical analysis of a sural nerve biopsy of one patient revealed common features with the mouse mutant and the absence of L-periaxin from the myelin sheath. These data confirm the importance of the periaxin proteins to normal Schwann cell function and substantiate the utility of the periaxin-null mouse as a model of ARCMT disease.

Amino Acid Sequence↗

PubMedDate not supplied

Charcot-Marie-Tooth disease.

OBJECTIVE: To discuss the similarities and differences in the clinical presentation of Charcot-Marie-Tooth Disease, an inherited peripheral neuropathy, and acquired lumbar spinal stenosis. CLINICAL FEATURES: Patients with lumbar spinal stenosis causing nerve root entrapment often have leg pain and weakness during such activities as walking or standing. Additional symptoms of poor balance, foot deformity and signs of cerebellar and sensory ataxia suggest a diagnosis of peripheral neuropathy rather than nerve root entrapment. INTERVENTION: Electrodiagnostic testing and nerve conduction studies reveal abnormal conduction velocities in cases of peripheral neuropathy such as Charcot-Marie-Tooth Disease. CONCLUSION: Sciatica and leg weakness may be due to a variety of causes, including nerve root entrapment and peripheral neuropathy. A diagnosis of Charcot-Marie-Tooth Disease should be considered in a case of progressive lower limb weakness associated with loss of balance and sensory ataxia. This diagnosis can be confirmed using nerve conduction studies.

Charcot-Marie-Tooth Disease↗

PubMed2003

The causes of Charcot-Marie-Tooth disease.

Charcot-Marie-Tooth (CMT) disease serves as the summary term for the most frequent forms of inherited peripheral neuropathies that affect motor and sensory nerves. In the last 12 years, 14 genes have been identified that cause different CMT subforms. The genes found initially are predominantly responsible for demyelinating and dysmyelinating neuropathies. Genes affected in axonal and rare forms of CMT have only recently been identified. In this review, we will focus on the currently known genes that are associated with CMT syndromes with regards to their genetics and function.

Charcot-Marie-Tooth Disease↗

PubMed2005

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.

Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of peripheral neuropathies. Different chromosomal loci have been linked with three autosomal dominant, 'intermediate' types of CMT: DI-CMTA, DI-CMTB and DI-CMTC. We refined the locus associated with DI-CMTB on chromosome 19p12-13.2 to 4.2 Mb in three unrelated families with CMT originating from Australia, Belgium and North America. After screening candidate genes, we identified unique mutations in dynamin 2 (DNM2) in all families. DNM2 belongs to the family of large GTPases and is part of the cellular fusion-fission apparatus. In transiently transfected cell lines, mutations of DNM2 substantially diminish binding of DNM2 to membranes by altering the conformation of the beta3/beta4 loop of the pleckstrin homology domain. Additionally, in the Australian and Belgian pedigrees, which carry two different mutations affecting the same amino acid, Lys558, CMT cosegregated with neutropenia, which has not previously been associated with CMT neuropathies.

Animals↗

PubMed2003

Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.

Charcot-Marie-Tooth disease (CMT) with autosomal recessive (AR) inheritance is a heterogeneous group of inherited motor and sensory neuropathies. In some families from Japan and Brazil, a demyelinating CMT, mainly characterized by the presence of myelin outfoldings on nerve biopsies, cosegregated as an autosomal recessive trait with early-onset glaucoma. We identified two such large consanguineous families from Tunisia and Morocco with ages at onset ranging from 2 to 15 years. We mapped this syndrome to chromosome 11p15, in a 4.6-cM region overlapping the locus for an isolated demyelinating ARCMT (CMT4B2). In these two families, we identified two different nonsense mutations in the myotubularin-related 13 gene, MTMR13. The MTMR protein family includes proteins with a phosphoinositide phosphatase activity, as well as proteins in which key catalytic residues are missing and that are thus called "pseudophosphatases." MTM1, the first identified member of this family, and MTMR2 are responsible for X-linked myotubular myopathy and Charcot-Marie-Tooth disease type 4B1, an isolated peripheral neuropathy with myelin outfoldings, respectively. Both encode active phosphatases. It is striking to note that mutations in MTMR13 also cause peripheral neuropathy with myelin outfoldings, although it belongs to a pseudophosphatase subgroup, since its closest homologue is MTMR5/Sbf1. This is the first human disease caused by mutation in a pseudophosphatase, emphasizing the important function of these putatively inactive enzymes. MTMR13 may be important for the development of both the peripheral nerves and the trabeculum meshwork, which permits the outflow of the aqueous humor. Both of these tissues have the same embryonic origin.

Adolescent↗

PubMed1990

[Charcot-Marie-Tooth disease. Peroneal muscular atrophy].

The classification of Charcot-Marie-Tooth disease is provisional, because the chromosome and gene localization is still not precisely known, and gene products have not been identified. This article presents an analysis of the clinical, genetical and neurophysiological data of eight Charcot-Marie-Tooth patients. The study was carried out to find out if it is possible to classify the disease from neurophysiological and genetical data. We found Charcot-Marie-Tooth disease transmitted autosomal dominant in three cases, whereas no family pattern was apparent in the remaining five. Among the three cases of autosomal dominant transmission, two were of the segmental demyelinization type, and one had axonal neuropathy. The five patients without a distinct family pattern consisted of three with segmental demyelinization and two with axonal neuropathy. Thus, the neurophysiological subdivision did not correlate with the inheritance, which indicates a genetical heterogeneity for the Charcot-Marie-Tooth disease.

Adolescent↗

PubMed2004

Charcot-Marie-Tooth disease: an update.

PURPOSE OF REVIEW: The purpose of this review is to assist neurologists, neuroscientists and other interested readers in following the expanding volume of information relating to the inherited peripheral neuropathies collectively referred to as Charcot-Marie-Tooth disease. Currently, mutations in multiple different genes expressed in Schwann cells and neurons cause a variety of overlapping clinical phenotypes. RECENT FINDINGS: Recent articles clarify molecular pathways involved in the pathogenesis of these disorders, and for the first time provide rational treatment strategies for the most common form of Charcot-Marie-Tooth disease. The identification of many new genes associated with neuropathy demonstrate the role of axonal transport and abnormal protein trafficking in causing various forms of Charcot-Marie-Tooth. They also further define the role of axonal signaling and the molecular architecture of both Schwann cells and neurons in maintaining normal peripheral nervous system function. Finally, recent reports have shown that progesterone antagonists and ascorbic acid can successfully treat rodent models of Charcot-Marie-Tooth disease type 1A. SUMMARY: Taken together, results from these articles support the concept that genetic causes of Charcot-Marie-Tooth disease serve as a living microarray system to identify molecules necessary for normal peripheral nervous system function. When we can make sense of these microarrays we are likely to understand the pathogenesis and develop rational therapies for many neurodegenerative diseases including Charcot-Marie-Tooth.

Animals↗

PubMed1999

Nerve decompression at the wrist in patients with Charcot-Marie-Tooth disease.

Studies evaluating the effects of nerve release in patients with Charcot-Marie-Tooth disease have been extremely limited to date. This series attempts to evaluate the clinical and electrophysiologic effect of nerve release at the wrist in a series of patients with this disease. Five patients with documented Charcot-Marie-Tooth disease of the upper extremity were followed clinically and had nerve conduction testing both before and after surgery. This study shows that there was an improvement in both sensory and motor testing after release in a significant proportion of patients (p < 0.05). All patients documented improvement in their sensory latency response postoperatively (100 percent) and most showed improvement in motor latency responses (87 percent). More importantly, however, there seems to be an even greater clinical improvement in preoperative complaints (e.g., paresthesia and pain) in the majority of the extremities that underwent surgery with all patients experiencing initial relief and the majority showing no recurrence (63 percent) at last follow-up. From these results, this relief can be variable, but has lasted for a significant duration postoperatively in the majority, necessitating careful consideration for surgery as a legitimate option for patients with Charcot-Marie-Tooth.

Adult↗

PubMed2005

Pregnancies and deliveries in patients with Charcot-Marie-Tooth disease.

OBJECTIVE: To investigate the effect of maternal Charcot-Marie-Tooth disease (CMT) on pregnancy and delivery. METHODS: Data from the Medical Birth Registry of Norway 1967 to 2002 were surveyed. This registry has compulsory notification of all births. One hundred eight births by mothers with CMT were identified. The reference group consisted of all 2.1 million births by mothers without CMT. RESULTS: Women with CMT had a higher occurrence of presentation anomalies (9.3 vs 4.5%; p = 0.04) and bleeding post partum (12.0 vs 5.8%; p = 0.02). The rate of operative delivery was twice that of the reference group (29.6 vs 15.3%; p = 0.002), and forceps was used three times as often in the CMT group (9.3 vs 2.7; p < 0.001). The majority of CMT cesarean sections were emergency sections. CONCLUSION: Charcot-Marie-Tooth disease increases the risk for complications during delivery, which is linked to a higher occurrence of emergency interventions during birth.

Adult↗

PubMed1984

[Congestive cardiomyopathy and pyruvate elevation in a case of Charcot-Marie-Tooth disease].

The case is reported of a patient with Charcot-Marie-Tooth disease and congestive cardiomyopathy. This is an exceptional association and suggests there could be transitional forms between Charcot-Marie-Tooth disease and Friedreich ataxia, which is frequently associated with hypertrophic cardiomyopathy. A disorder of pyruvate metabolism observed in our patient could explain both the neurologic and cardiac symptoms.

Cardiomyopathy, Dilated↗

PubMed1989

Neurofibromatosis, Charcot-Marie-Tooth disease, or both?

The simultaneous occurrence of neurofibromatosis and a peripheral neuropathy that has the clinical and electrophysiological features of Charcot-Marie-Tooth disease (HMSN I) has rarely been reported. A recent report described patients with HMSN I with hypertrophic lumbosacral nerve roots. We report a patient with compelling evidence for neurofibromatosis who also demonstrates clinical and electrophysiological features of Charcot-Marie-Tooth disease. Abdominal and pelvic CT scan revealed diffusely and symmetrically enlarged lumbosacral nerve roots. These nerve roots were biopsied, and the specimens revealed neurofibromas. Histology, electrophysiological studies, radiology, and clinical appearance of the abnormality in peripheral nerves and lumbosacral nerve roots will be emphasized in this paper. The simultaneous occurrence in our patient of neurofibromatosis and Charcot-Marie-Tooth disease suggests a possible genetic relationship between these two disorders.

Adult↗

PubMed1980

Abnormal vascular reflexes in Charcot-Marie-Tooth disease.

Vascular reflexes were assessed in 17 adult patients with Charcot-Marie-Tooth disease using the Valsalva manoeuvre, and the pulse rate and systolic blood pressure responses to standing. Six patients showed abnormalities consistent with an autonomic neuropathy. One patient had giant nerve fibre bundles in the myenteric plexus of bowel resected for co-existent Crohn's disease, indicating histological involvement of these autonomic neurones. Other evidence of an autonomic component to the peripheral neuropathy of Charcot-Marie-Tooth disease is reviewed.

Adult↗

PubMed2004

Myelin protein zero gene mutations in Taiwanese patients with Charcot-Marie-Tooth disease type 1.

BACKGROUND: Charcot-Marie-Tooth disease type 1 (CMT1) is the most common inherited peripheral neuropathy and represents a genetically heterogeneous condition. In addition to the peripheral myelin protein 22 gene (PMP22) duplication (CMT1A), myelin protein zero gene (MPZ) mutations may account for a certain portion of CMT1 patients (CMT1B). OBJECTIVES: The authors analyzed the MPZ mutations in Taiwanese patients who do not have PMP22 duplication. Specifically, their clinical and molecular features were characterized. MATERIALS AND METHODS: Twenty-four of 57 unrelated Taiwanese patients with CMT1 were selected after excluding the CMT1A duplication. Subsequent analysis of the coding regions of the MPZ gene was performed with single-strand-conformation polymorphism (SSCP), which was then followed by nucleotide sequencing. RESULTS: Four missense mutations and one 4-base pair (bp) deletion, respectively, were identified in five patients, of which one mutation, c.173 T>A, has never been previously reported. Three missense mutations were located in exon 2, the other one in exon 3, and the deletion in exon 6. CONCLUSIONS: This study expands the number of CMT1 associated MPZ mutation and suggests that analysis of the coding sequence of MPZ should be performed in all CMT patients without CMT1A duplication to clarify their disease nature.

Adult↗

PubMed1979

Variation of phenotype in Charcot-Marie-Tooth disease.

A two year old from a family with typical Charcot-Marie-Tooth disease has extensive ocular and central abnormalities, severe generalized neuropathy, and amyotrophy. Many abnormalities previously described in association with Charcot-Marie-Tooth disease are combined in this patient, including chorioretinal degeneration, optic atrophy, facial weakness, oligophrenia, and generalized amyotrophy. Documentation of the diagnosis in the child's ancestors and the precedent for each of his abnormalities suggest that these features represent a virulent expression of the inherited defect.

Amyotrophic Lateral Sclerosis↗

PubMed1980

Malignant melanoma and Charcot-Marie-Tooth disease.

Two patients with Charco-Marie-Tooth disease subsequently developed cutaneous malignant melanoma. This constellation of diseases may be due to chance, but raises the possibility of a shared neural crest defect or genetic linkage.

Adult↗

PubMed2006

The characteristics of gait in Charcot-Marie-Tooth disease types I and II.

Certain typical gait characteristics such as foot-drop and foot supination are well described in Charcot-Marie-Tooth disease. These are directly related to the primary disease and due to the weakness of ankle dorsiflexors and everters characteristic of this hereditary neuropathy. We analysed 16 subjects aged 8-52 years old (11 with type I, 5 with type II Charcot-Marie-Tooth disease) using three-dimensional gait analysis and identified kinematic features previously unreported. These patients showed a combination of tight tendo achillei, foot-drop, failure of plantar flexion and increased foot supination, but also presented with excessive internal rotation of the knee and/or tibia, knee hyperextension in stance, excessive external rotation at the hips and decreased hip adduction in stance (typical of a broad based gait). These proximal features could have been an adaptation to or consequence of the disrupted ankle and foot biomechanics, however a direct relation to the neuropathy is also possible since sub-normal muscle power was observed at the proximal levels in most subjects on both manual testing and kinetic analysis. Gait analysis is a useful tool in defining the characteristic gait of patients with Charcot-Marie-Tooth disease.

Adolescent↗