11/227. 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.- - - - - - - - - - ranking = 1keywords = nerve (Clic here for more details about this article) |
12/227. Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B).Hereditary motor and sensory neuropathy with focally folded myelin sheaths, or Charcot-Marie-Tooth neuropathy type 4B (CMT4B), is a distinct clinical and genetic entity belonging to the heterogeneous group of autosomal recessive demyelinating neuropathies. We first described a large inbred pedigree with 10 patients affected by CMT4B, which enabled us to uncover the genetic findings, clinical spectrum, and natural history of such a disorder. The clinical picture was characterized by infantile onset with progressive symmetric distal and proximal muscular weakness. Using homozygosity mapping and haplotype sharing analysis, we found evidence of linkage of chromosome 11q23. We then identified a second unrelated family in which two individuals were affected with CMT4B. Although the clinical findings were similar to those previously reported, we excluded the disease locus segregating in this smaller pedigree from the 11q23 region. We thus provided evidence for a second locus causing the CMT4B phenotype. All these findings indicate that CMT4B seems to be phenotypically quite homogeneous, but is genetically heterogeneous.- - - - - - - - - - ranking = 101.0333174935keywords = neuropathy (Clic here for more details about this article) |
13/227. Hemizygous mutation of the peripheral myelin protein 22 gene associated with charcot-marie-tooth disease type 1.We studied a female patient who presented with autosomal recessive or sporadic charcot-marie-tooth disease type 1 (CMT1). We found that she had a 1.5-megabase deletion in chromosome 17p11.2-p12 containing the peripheral myelin protein 22 gene (PMP22) and an Arg157Gly mutation of PMP22. Hemizygous mutation of PMP22 should be considered in patients with autosomal recessive CMT1 or with severe hereditary neuropathy with liability to pressure palsy.- - - - - - - - - - ranking = 31.477527962841keywords = neuropathy, peripheral (Clic here for more details about this article) |
14/227. 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.- - - - - - - - - - ranking = 0.75keywords = nerve (Clic here for more details about this article) |
15/227. Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation.Mutations in the gene coding for the Schwann cell transcription factor early growth response 2 (EGR2), which seems to regulate myelinogenesis and hindbrain development, have been observed in few cases of inherited neuropathy. The authors describe a unique combination of cranial nerve deficits in one member of a Charcot-Marie-Tooth 1 family carrying an EGR2 mutation (Arg381His). This finding further supports the role of EGR2 in cranial nerve development.- - - - - - - - - - ranking = 18.338886248916keywords = neuropathy, nerve (Clic here for more details about this article) |
16/227. Acute disseminated encephalomyelitis in a female with hereditary neuropathy with susceptibility to pressure palsy.A 7-year-old female presented with fever, urinary incontinence, mental regression, gait disturbance, and lethargy after diarrhea. magnetic resonance imaging revealed multifocal T(2)-weighted hypersignal lesions supportive of acute disseminated encephalomyelitis. Her mother had been diagnosed with hereditary neuropathy with susceptibility to pressure palsy. The girl was also determined to have hereditary neuropathy with liability to pressure palsy, with a 1.5-Mb deletion in chromosome 17p11.2 encompassing the gene for peripheral myelin protein 22 detected by fluorescent in situ hybridization. Hereditary peripheral neuropathies may be a factor in triggering the autoimmune demyelinating disorder of the central nervous system.- - - - - - - - - - ranking = 107.05210742291keywords = neuropathy, peripheral, nervous system (Clic here for more details about this article) |
17/227. Becker muscular dystrophy combined with X-linked Charcot-Marie-Tooth neuropathy.A man was identified with two X-chromosomal neuromuscular disorders, X-linked charcot-marie-tooth disease (CMTX) and Becker muscular dystrophy (BMD). The neuropathy could be tracked in the family and was found to be caused by a mutation in the connexin32 gene on Xq13. 1. The muscular dystrophy was sporadic owing to a de novo deletion in the dystrophin gene located in band Xp21.2. Although these genetic alterations of the same X-chromosome are considered as physically independent, their combination resulted in a unique phenotype with severe wasting of proximal as well as distal muscles and rapid progression of both conditions.- - - - - - - - - - ranking = 84.194431244581keywords = neuropathy (Clic here for more details about this article) |
18/227. Fulminant case of hereditary neuropathy with liability to pressure palsy.Hereditary neuropathy with liability to pressure palsy (HNPP) is typified as isolated nerve palsies caused by trivial compression or trauma. It rarely presents in two extremities and even more infrequently affects all four limbs simultaneously. We present a patient who concurrently experienced right shoulder, left hand, and bilateral foot weakness mimicking several multifocal conditions. electromyography suggested HNPP and subsequent nerve biopsy and genetic testing were confirmatory. The case demonstrates that HNPP can present in a fulminant manner and should be included in the differential diagnosis of acute multiple mononeuropathies. The possible causes for such a rapid clinical course in our patient are discussed.- - - - - - - - - - ranking = 84.694431244581keywords = neuropathy, nerve (Clic here for more details about this article) |
19/227. Bilateral trigeminal neuralgia: a therapeutic dilemma.In order to illustrate the inherent problems of managing bilateral trigeminal neuralgia a retrospective study of the 16 cases of bilateral trigeminal neuralgia, out of just over 300 cases of trigeminal neuralgia, treated over a 14-year period, has been performed. All the patients, presented with a typical history of trigeminal neuralgia and underwent surgical exploration. pain relief was initially achieved in all cases; however, only four remained cured, three have become pain free after additional rhizotomy, a further one after peripheral cryotherapy and four with medical treatment. Four patients have had bilateral operations for trigeminal neuralgia, but in two cases the pain was relieved on one side only. Bilateral trigeminal neuralgia presents special problems of management with respect to underlying neuropathology (e.g. multiple sclerosis), the need for the limitation of the use of ablative techniques in order to minimise the disability of bilateral sensory and motor dysfunction, and the relatively poor response to microvascular decompression. These factors emphasize the multifactorial nature of the cause of trigeminal neuralgia. Magnetic resonance tomographic angiography is now available and is important in determining the range of therapeutic options for this group of patients.- - - - - - - - - - ranking = 2.927728342785keywords = peripheral (Clic here for more details about this article) |
20/227. Clinical predominance of proximal upper limb weakness in CMT1A syndrome.We report an Austrian family with proximal muscle weakness and wasting predominantly of the shoulder girdle musculature, normal or slightly reduced distal muscle power, mild foot deformity, absent or reduced tendon reflexes in the lower limbs, and normal or slightly diminished sensation. Electrophysiologically, motor nerve conduction velocities were slowed to less than 33 m/s, distal latencies were prolonged, and compound motor action potentials were low. Sensory nerve conduction velocities were extremely reduced or no sensory potentials were recordable. genetic testing in three affected individuals revealed a duplication of the chromosomal region 17p11.2. In addition, genetic testing for facioscapulohumeral muscular dystrophy (FSHD) revealed a 33 kb EcoRI fragment on chromosome 4q35 in one affected individual and in the clinically normal parent, whereas in a second affected person normal dna-sizes were observed. These clinical findings define a new phenotypic variant associated with the Charcot-Marie-Tooth 1A duplication. This may be due to a mutation in another gene contained in the 1.5 Mb duplication although mutations in the peripheral myelin protein 22 gene have been excluded. Alternatively, the genetic background of other genes in the family may modify the phenotypic expression, as found in other inherited diseases.The unusual phenotype cannot be explained by the concomitant presence of FSHD despite some evidence for coexistance in one individual.- - - - - - - - - - ranking = 3.427728342785keywords = peripheral, nerve (Clic here for more details about this article) |
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